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Die Kardiologie
Erschienen in: Die Kardiologie 5/2023

30.08.2023 | Angeborene Herzklappenfehler | Konsensuspapiere

Gendiagnostik bei kardiovaskulären Erkrankungen

Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), der Gesellschaft für Humangenetik (GfH) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK)

verfasst von: Univ.-Prof. Dr. med. E. Schulze-Bahr, S. Klaassen, B. Gerull, Y. von Kodolitsch, U. Landmesser, O. Rieß, B. Meder, H. Schunkert

Erschienen in: Die Kardiologie | Ausgabe 5/2023

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Zusammenfassung

Dieses Konsensuspapier beschreibt die Bedeutung, Vorgehensweise und die gesetzlichen Regelungen der molekulargenetischen Diagnostik bei kardiovaskulären Erkrankungen. Inhaltlich werden konkrete diagnostische Empfehlungen zu hereditären Arrhythmien, Kardiomyopathien, Herz- und Gefäßfehlern, seltenen Syndromen, familiärer Hypercholesterinämie, molekularer Autopsie (plötzlicher Herztod) und Pharmakogenetik gegeben. Das vorherige Positionspapier der DGK/DGPK von 2015 wurde aktualisiert und nun mit der GfH als weitere Fachgesellschaft abgestimmt. Die interdisziplinäre Autorengruppe aus Kardiologen, Kinderkardiologen und Humangenetikern mit Expertise in der Behandlung von kardiovaskulären Erkrankungen von Erwachsenen, Kindern und Jugendlichen trägt mit dieser Aktualisierung dem großen Zuwachs des kardiogenetischen Wissens nach aktuellem Stand Rechnung. Die Hochdurchsatzsequenzierung (Next Generation Sequencing [NGS]) wurde zwischenzeitlich für die klinische Gendiagnostik als Leistung der gesetzlichen Krankenkasse eingeführt, was zu einer deutlich höheren Rate an positiven Befunden geführt hat. Die genetische Diagnostik sollte mit einer humangenetischen Beratung vor und nach der molekulargenetischen Untersuchung einhergehen. Mit der genetischen Diagnose der Erkrankung sind häufig bessere Behandlungsmöglichkeiten und Interventionen verbunden, die die Lebensqualität und Prognose der Patienten verbessern können. Die systematische Untersuchung der Patienten erfordert eine genaue Familienanamnese und die detaillierte Phänotypisierung des Indexpatienten. Weitere Familienmitglieder sollten molekulargenetisch untersucht werden, wenn sich daraus eine diagnostische, therapeutische und/oder prognostische Konsequenz ergibt. Eine molekulargenetische Untersuchung von Kindern und Jugendlichen im Rahmen eines familiären Kaskadenscreenings kann durchgeführt werden, wenn aus dem genetischen Befund unmittelbare, therapeutische Konsequenzen folgen. Insbesondere bei syndromalen Erkrankungen ergibt sich die Notwendigkeit einer interdisziplinären Betreuung. Eine genetische Untersuchung kann über die Beurteilung des Analyseergebnisses (bioinformatische Sequenzauswertung) molekulargenetische Zusatzbefunde generieren. Die genetische Heterogenität und variable Penetranz und die fortschreitenden Erkenntnisse im Bereich der kardiovaskulären Erkrankungen stellen weiterhin eine Herausforderung bei der Betreuung der betroffenen Patienten dar und bedingen eine begleitende Behandlung in spezialisierten Einrichtungen.
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Literatur
1.
Aalberts JJ, Thio CH, Schuurman AG et al (2012) Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. Am J Med Genet A 158A:982–988PubMedCrossRef
2.
Abdullah-Koolmees H, van Keulen AM, Nijenhuis M et al (2020) Pharmacogenetics guidelines: overview and comparison of the DPWG, CPIC, CPNDS, and RNPGx guidelines. Front Pharmacol 11:595219PubMedCrossRef
3.
Ackerman MJ, Priori SG, Willems S et al (2011) HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the heart rhythm society (HRS) and the European heart rhythm association (EHRA). Heart Rhythm 8:1308–1339PubMedCrossRef
4.
Adler A, Novelli V, Amin AS et al (2020) An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome. Circulation 141:418–428PubMedPubMedCentralCrossRef
5.
Ahamed H, Balegadde AV, Menon S et al (2020) Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort. Sci Rep 10:20610PubMedPubMedCentralCrossRef
6.
Ahmad F, Mcnally EM, Ackerman MJ et al (2019) Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American heart association. Circ Genom Precis Med 12:e54PubMedCrossRef
7.
8.
Al-Khatib SM, Stevenson WG, Ackerman MJ et al (2018) 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American college of cardiology/American heart association task force on clinical practice guidelines and the heart rhythm society. J Am Coll Cardiol 72:e91–e220PubMedCrossRef
9.
Alankarage D, Ip E, Szot JO et al (2019) Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genet Med 21:1111–1120PubMedCrossRef
10.
Albornoz G, Coady MA, Roberts M et al (2006) Familial thoracic aortic aneurysms and dissections—incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 82:1400–1405PubMedCrossRef
11.
Anderson RH, Jensen B, Mohun TJ et al (2017) Key questions relating to left ventricular noncompaction cardiomyopathy: is the emperor still wearing any clothes? Can J Cardiol 33:747–757PubMedCrossRef
12.
Robert Koch-Institut (2017) Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 60:472–475CrossRef
13.
Anonymous (2022) Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Inhalte der Aufklärung bei genetischen Untersuchungen zu medizinischen Zwecken gemäß § 23 Abs. 2 Nr. 3 GenDG. Bundesgesundheitsbl 65:963–968
14.
Anonymous (2017) Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Inhalte der Aufklärung bei genetischen Untersuchungen zu medizinischen Zwecken gemäß § 23 Abs. 2 Nr. 3 GenDG. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 60:923–927CrossRef
15.
Anonymous (2018) S1 Leitlinie: Molekulargenetische Diagnostik mit Hochdurchsatz-Verfahren der Keimbahn, beispielsweise mit Next-Generation Sequencing. medgen 30:278–292CrossRef
16.
Anonymous (2019) S2k-Leitlinie Humangenetische Diagnostik und Genetische Beratung. medgen 30:469–522
17.
Antzelevitch C, Yan GX, Ackerman MJ et al (2016) J‑wave syndromes expert consensus conference report: emerging concepts and gaps in knowledge. J Arrhythm 32:315–339PubMedPubMedCentralCrossRef
18.
Arbustini E, Behr ER, Carrier L et al (2022) Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European society of cardiology council on cardiovascular genomics. Eur Heart J 43:1901–1916PubMedCrossRef
19.
Arbustini E, Favalli V, Narula N et al (2016) Left ventricular noncompaction: a distinct genetic cardiomyopathy? J Am Coll Cardiol 68:949–966PubMedCrossRef
20.
Arking DE, Pulit SL, Crotti L et al (2014) Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet 46:826–836PubMedPubMedCentralCrossRef
21.
Arnaud P, Hanna N, Benarroch L et al (2019) Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD). Genet Med 21:2015–2024PubMedCrossRef
22.
Asiimwe IG, Zhang EJ, Osanlou R et al (2021) Warfarin dosing algorithms: a systematic review. Br J Clin Pharmacol 87:1717–1729PubMedCrossRef
23.
Aung N, Doimo S, Ricci F et al (2020) Prognostic significance of left ventricular noncompaction: systematic review and meta-analysis of observational studies. Circ Cardiovasc Imaging 13:e9712PubMedPubMedCentralCrossRef
24.
25.
Balaji S, Dilorenzo MP, Fish FA et al (2019) Risk factors for lethal arrhythmic events in children and adolescents with hypertrophic cardiomyopathy and an implantable defibrillator: an international multicenter study. Heart Rhythm 16:1462–1467PubMedCrossRef
26.
Barc J, Tadros R, Glinge C et al (2022) Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nat Genet 54:232–239PubMedPubMedCentralCrossRef
27.
Baumgartner H, De Backer J, Babu-Narayan SV et al (2021) 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J 42:563–645PubMedCrossRef
28.
Belbachir N, Portero V, Al Sayed ZR et al (2019) RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome. Eur Heart J 40:3081–3094PubMedPubMedCentralCrossRef
29.
Benrashid E, Ohman JW (2020) Current management of the vascular subtype of Ehlers–Danlos syndrome. Curr Opin Cardiol 35:603–609PubMedCrossRef
30.
Bermúdez-Jiménez FJ, Carriel V, Brodehl A et al (2018) Novel Desmin mutation p.Glu401asp impairs filament formation, disrupts cell membrane integrity, and causes severe arrhythmogenic left ventricular cardiomyopathy/dysplasia. Circulation 137:1595–1610PubMedCrossRef
31.
Boodhwani M, Andelfinger G, Leipsic J et al (2014) Canadian cardiovascular society position statement on the management of thoracic aortic disease. Can J Cardiol 30:577–589PubMedCrossRef
32.
Bos JM, Theis JL, Tajik AJ et al (2008) Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy. Am Heart J 155:1128–1134PubMedPubMedCentralCrossRef
33.
Bosman LP, Sammani A, James CA et al (2018) Predicting arrhythmic risk in arrhythmogenic right ventricular cardiomyopathy: a systematic review and meta-analysis. Heart Rhythm 15:1097–1107PubMedCrossRef
34.
Bourfiss M, van Vugt M, Alasiri AI et al (2022) Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population. Circ Genom Precis Med 15:e3704PubMedPubMedCentralCrossRef
35.
Braenne I, Kleinecke M, Reiz B et al (2016) Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. Eur J Hum Genet 24:191–197PubMedCrossRef
36.
Brodehl A, Ferrier RA, Hamilton SJ et al (2016) Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat 37:269–279PubMedCrossRef
37.
Brodehl A, Gaertner-Rommel A, Klauke B et al (2017) The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. Hum Mutat 38:947–952PubMedCrossRef
38.
39.
Brown EE, Sturm AC, Cuchel M et al (2020) Genetic testing in dyslipidemia: a scientific statement from the national lipid association. J Clin Lipidol 14:398–413PubMedCrossRef
40.
Burke MA, Cook SA, Seidman JG et al (2016) Clinical and mechanistic insights into the genetics of cardiomyopathy. J Am Coll Cardiol 68:2871–2886PubMedPubMedCentralCrossRef
41.
Byers PH, Belmont J, Black J et al (2017) Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 175:40–47PubMedCrossRef
42.
Cadrin-Tourigny J, Bosman LP, Wang W et al (2021) Sudden cardiac death prediction in arrhythmogenic right ventricular cardiomyopathy: a multinational collaboration. Circ Arrhythm Electrophysiol 14:e8509PubMedCrossRef
43.
Calloe K, Broendberg AK, Christensen AH et al (2018) Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D). Int J Cardiol 257:160–167PubMedCrossRef
44.
Campuzano O, Fernandez-Falgueras A, Lemus X et al (2019) Short QT syndrome: a comprehensive genetic interpretation and clinical translation of rare variants. J Clin Med 8(7):1035PubMedPubMedCentralCrossRef
45.
Campuzano O, Sanchez-Molero O, Fernandez A et al (2017) Sudden arrhythmic death during exercise: a post-mortem genetic analysis. Sports Med 47:2101–2115PubMedCrossRef
46.
Carter A, Brackley SM, Gao J et al (2019) The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: a rare condition that mimics NAFLD. J Hepatol 70:142–150PubMedCrossRef
47.
Casas G, Limeres J, Oristrell G et al (2021) Clinical risk prediction in patients with left ventricular myocardial noncompaction. J Am Coll Cardiol 78:643–662PubMedCrossRef
48.
Cascorbi I (2012) Drug interactions—principles, examples and clinical consequences. Dtsch Ärztebl Int 109:546–555 (quiz 556)PubMedPubMedCentral
49.
Castaño A, Drachman BM, Judge D et al (2015) Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs. Heart Fail Rev 20:163–178PubMedPubMedCentralCrossRef
50.
Castiglione A, Odening K (2020) QT interval and its prolongation—what does it mean? Dtsch Med Wochenschr 145:536–542PubMed
51.
Chan RH, Maron BJ, Olivotto I et al (2014) Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation 130:484–495PubMedCrossRef
52.
Chen L, Song J, Chen X et al (2019) A novel genotype-based clinicopathology classification of arrhythmogenic cardiomyopathy provides novel insights into disease progression. Eur Heart J 40:1690–1703PubMedCrossRef
53.
Chen X, Barajas-Martinez H, Xia H et al (2021) Clinical and functional genetic characterization of the role of cardiac calcium channel variants in the early repolarization syndrome. Front Cardiovasc Med 8:680819PubMedPubMedCentralCrossRef
54.
Cheng A, Owens D (2015) Marfan syndrome, inherited aortopathies and exercise: what is the right answer? Heart 101:752–757PubMedCrossRef
55.
Chin TK, Perloff JK, Williams RG et al (1990) Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 82:507–513PubMedCrossRef
56.
Chintanaphol M, Orgil BO, Alberson NR et al (2022) Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling. Rev Cardiovasc Med 23:108PubMedCrossRef
57.
58.
Clemens DJ, Tester DJ, Giudicessi JR et al (2019) International triadin knockout syndrome registry. Circ Genom Precis Med 12:e2419PubMedCrossRef
59.
Corrado D, Perazzolo Marra M, Zorzi A et al (2020) Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria. Int J Cardiol 319:106–114PubMedCrossRef
60.
Crotti L, Spazzolini C, Tester DJ et al (2019) Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the international calmodulinopathy registry. Eur Heart J 40:2964–2975PubMedPubMedCentralCrossRef
61.
Cuchel M, Bruckert E, Ginsberg HN et al (2014) Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the consensus panel on familial hypercholesterolaemia of the European atherosclerosis society. Eur Heart J 35:2146–2157PubMedPubMedCentralCrossRef
62.
Daniels MJ, Fusi L, Semsarian C et al (2021) Myosin modulation in hypertrophic cardiomyopathy and systolic heart failure: getting inside the engine. Circulation 144:759–762PubMedPubMedCentralCrossRef
63.
Das KJ, Ingles J, Bagnall RD et al (2014) Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genet Med 16:286–293CrossRef
64.
Demartino RR, Sen I, Huang Y et al (2018) Population-based assessment of the incidence of aortic dissection, intramural hematoma, and penetrating ulcer, and its associated mortality from 1995 to 2015. Circ Cardiovasc Qual Outcomes 11:e4689PubMedPubMedCentralCrossRef
65.
66.
Dietz HC, Cutting CR, Pyeritz RE et al (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337–339PubMedCrossRef
67.
Doesch C, Tulumen E, Akin I et al (2017) Incremental benefit of late gadolinium cardiac magnetic resonance imaging for risk stratification in patients with hypertrophic cardiomyopathy. Sci Rep 7:6336PubMedPubMedCentralCrossRef
68.
Doisne N, Waldmann V, Redheuil A et al (2020) A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions. Hum Mutat 41:850–859PubMedCrossRef
69.
70.
El-Battrawy I, Besler J, Liebe V et al (2018) Long-term follow-up of patients with short QT syndrome: clinical profile and outcome. J Am Heart Assoc 7:e10073PubMedPubMedCentralCrossRef
71.
Ellesoe SG, Workman CT, Bouvagnet P et al (2018) Familial co-occurrence of congenital heart defects follows distinct patterns. Eur Heart J 39:1015–1022PubMedCrossRef
72.
Elliott P, Andersson B, Arbustini E et al (2008) Classification of the cardiomyopathies: a position statement from the European society of cardiology working group on myocardial and pericardial diseases. Eur Heart J 29:270–276PubMedCrossRef
73.
Elliott PM, Anastasakis A, Asimaki A et al (2019) Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report. Eur J Heart Fail 21:955–964PubMedCrossRef
74.
Elliott PM, Anastasakis A, Borger MA et al (2014) 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European society of cardiology (ESC). Eur Heart J 35:2733–2779PubMedCrossRef
75.
Erbel R, Aboyans V, Boileau C et al (2014) 2014 ESC guidelines on the diagnosis and treatment of aortic diseases. Eur Heart J 35:2873–2926PubMedCrossRef
76.
Fellmann F, van El CG, Charron P et al (2019) European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Eur J Hum Genet 27:1763–1773PubMedPubMedCentralCrossRef
77.
Finocchiaro G, Merlo M, Sheikh N et al (2020) The electrocardiogram in the diagnosis and management of patients with dilated cardiomyopathy. Eur J Heart Fail 22:1097–1107PubMedCrossRef
78.
Flynn CD, Tian DH, Wilson-Smith A et al (2017) Systematic review and meta-analysis of surgical outcomes in Marfan patients undergoing aortic root surgery by composite-valve graft or valve sparing root replacement. Ann Cardiothorac Surg 6:570–581PubMedPubMedCentralCrossRef
79.
Fujii Y, Itoh H, Ohno S et al (2017) A type 2 ryanodine receptor variant associated with reduced Ca(2+) release and short-coupled torsades de pointes ventricular arrhythmia. Heart Rhythm 14:98–107PubMedCrossRef
80.
Gallego-Delgado M, Delgado JF, Brossa-Loidi V et al (2016) Idiopathic restrictive cardiomyopathy is primarily a genetic disease. J Am Coll Cardiol 67:3021–3023PubMedCrossRef
81.
Gao X, Ye D, Zhou W et al (2022) A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions. HeartRhythm Case Rep 8:54–59PubMedCrossRef
82.
Gati S, Chandra N, Bennett RL et al (2013) Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? Heart 99:401–408PubMedCrossRef
83.
Gati S, Papadakis M, Papamichael ND et al (2014) Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations. Circulation 130:475–483PubMedCrossRef
84.
Gelb BD (2016) Genetic discovery for congenital heart defects. In: Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H (Hrsg) Etiology and morphogenesis of congenital heart disease: from gene function and cellular interaction to morphology. Springer, Tokyo, S 355–360CrossRef
85.
Gelb BD, Cave H, Dillon MW et al (2018) ClinGen’s RASopathy expert panel consensus methods for variant interpretation. Genet Med 20:1334–1345PubMedPubMedCentralCrossRef
86.
Gersh BJ, Maron BJ, Bonow RO et al (2011) 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American college of cardiology foundation/American heart association task force on practice guidelines. Circulation 124:2761–2796PubMedCrossRef
87.
Gerull B, Heuser A, Wichter T et al (2004) Mutations in the desmosomal protein plakophilin‑2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162–1164PubMedCrossRef
88.
Gigli M, Merlo M, Graw SL et al (2019) Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy. J Am Coll Cardiol 74:1480–1490PubMedPubMedCentralCrossRef
89.
Giudicessi JR, Lieve KVV, Rohatgi RK et al (2019) Assessment and validation of a phenotype-enhanced variant classification framework to promote or demote RYR2 missense variants of uncertain significance. Circ Genom Precis Med 12:e2510PubMedCrossRef
90.
Giustetto C, Scrocco C, Schimpf R et al (2015) Usefulness of exercise test in the diagnosis of short QT syndrome. Europace 17:628–634PubMedCrossRef
91.
Gollob MH, Redpath CJ, Roberts JD (2011) The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol 57:802–812PubMedCrossRef
92.
Gouveia E Melo R, Silva Duarte G, Lopes A et al (2021) Incidence and prevalence of thoracic aortic aneurysms: a systematic review and meta-analysis of population-based studies. Semin Thorac Cardiovasc Surg 34(1):1–16PubMedCrossRef
93.
Gregg AR, Skotko BG, Benkendorf JL et al (2016) Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American college of medical genetics and genomics. Genet Med 18:1056–1065PubMedCrossRef
94.
Groeneweg JA, Bhonsale A, James CA et al (2015) Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet 8:437–446PubMedCrossRef
95.
Groenink M, den Hartog AW, Franken R et al (2013) Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J 34:3491–3500PubMedCrossRef
96.
97.
98.
Gussak I, Brugada P, Brugada J et al (2000) Idiopathic short QT interval: a new clinical syndrome? Cardiology 94:99–102PubMedCrossRef
99.
Haas J, Frese KS, Peil B et al (2015) Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J 36:1123–1135aPubMedCrossRef
100.
Harper AR, Goel A, Grace C et al (2021) Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Nat Genet 53:135–142PubMedPubMedCentralCrossRef
101.
Harrell DT, Ashihara T, Ishikawa T et al (2015) Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. Int J Cardiol 190:393–402PubMedCrossRef
102.
Hartung B, Tank A, Dittmann S et al (2021) A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations. BMC Cardiovasc Disord 21:174PubMedPubMedCentralCrossRef
103.
Haywood AF, Merner ND, Hodgkinson KA et al (2013) Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. Eur Heart J 34:1002–1011PubMedCrossRef
104.
Hegele RA, Boren J, Ginsberg HN et al (2020) Rare dyslipidaemias, from phenotype to genotype to management: a European atherosclerosis society task force consensus statement. Lancet Diabetes Endocrinol 8:50–67PubMedCrossRef
105.
Heidbuchel H, Arbelo E, D’ascenzi F et al (2021) Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part 2: ventricular arrhythmias, channelopathies, and implantable defibrillators. Europace 23:147–148PubMedCrossRef
106.
Hershberger RE, Givertz MM, Ho CY et al (2018) Genetic evaluation of cardiomyopathy—a heart failure society of america practice guideline. J Card Fail 24:281–302PubMedPubMedCentralCrossRef
107.
Hershberger RE, Givertz MM, Ho CY et al (2018) Genetic evaluation of cardiomyopathy: a clinical practice resource of the American college of medical genetics and genomics (ACMG). Genet Med 20:899–909PubMedCrossRef
108.
Hershberger RE, Hedges DJ, Morales A (2013) Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 10:531–547PubMedCrossRef
109.
110.
Ho CY, Day SM, Ashley EA et al (2018) Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the sarcomeric human cardiomyopathy registry (SHaRe). Circulation 138:1387–1398PubMedPubMedCentralCrossRef
111.
Homsy J, Zaidi S, Shen Y et al (2015) De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 350:1262–1266PubMedPubMedCentralCrossRef
112.
Honarbakhsh S, Providencia R, Garcia-Hernandez J et al (2021) A primary prevention clinical risk score model for patients with Brugada syndrome (BRUGADA-RISK). JACC Clin Electrophysiol 7:210–222PubMedCrossRef
113.
Hosseini SM, Kim R, Udupa S et al (2018) Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome. Circulation 138:1195–1205PubMedPubMedCentralCrossRef
114.
Hu D, Li Y, Zhang J et al (2017) The phenotypic spectrum of a mutation hotspot responsible for the short QT syndrome. JACC Clin Electrophysiol 3:727–743PubMedCrossRef
115.
116.
Huang PS, Hsieh CS, Chang SN et al (2020) Prevalence of sudden arrhythmic death syndrome-related genetic mutations in an Asian cohort of whole genome sequence. Europace 22:1287–1297PubMedCrossRef
117.
118.
119.
120.
121.
Ingles J, Goldstein J, Thaxton C et al (2019) Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ Genom Precis Med 12:e2460PubMedPubMedCentralCrossRef
122.
Isselbacher EM, Preventza O, Hamilton Black J 3rd et al (2022) 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American heart association/American college of cardiology joint committee on clinical practice guidelines. J Am Coll Cardiol 80:e223–e393PubMedCrossRef
123.
Itoh H, Crotti L, Aiba T et al (2016) The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J 37:1456–1464PubMedCrossRef
124.
James CA, Jongbloed JDH, Hershberger RE et al (2021) International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework. Circ Genom Precis Med 14:e3273PubMedPubMedCentralCrossRef
125.
Januzzi JL, Marayati F, Mehta RH et al (2004) Comparison of aortic dissection in patients with and without Marfan’s syndrome (results from the international registry of aortic dissection). Am J Cardiol 94:400–402PubMedCrossRef
126.
Jenni R, Oechslin E, Schneider J et al (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 86:666–671PubMedPubMedCentralCrossRef
127.
Jimmy Juang JM, Liu YB, Julius Chen CY et al (2020) Validation and disease risk assessment of previously reported genome-wide genetic variants associated with Brugada syndrome: SADS-TW brS registry. Circ Genom Precis Med 13:e2797PubMedPubMedCentralCrossRef
128.
Jin SC, Homsy J, Zaidi S et al (2017) Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49:1593–1601PubMedPubMedCentralCrossRef
129.
Jondeau G, Ropers J, Regalado E et al (2016) International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the MAC (Montalcino aortic consortium). Circ Cardiovasc Genet 9:548–558PubMedPubMedCentralCrossRef
130.
131.
Juang JJ, Binda A, Lee SJ et al (2020) GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death. EBioMedicine 57:102843PubMedPubMedCentralCrossRef
132.
Kahlert A‑K, Hoff K, Hitz M‑P (2017) Genetik der angeborenen Herzfehler. medgen 29:248–256CrossRef
133.
Kajiyama T, Miyazawa K, Kondo Y et al (2020) SCN5A mutation and a short coupled variant of Torsades de Pointes originating from the right ventricle: a case report. J Cardiol Cases 21:104–105PubMedCrossRef
134.
Kalia SS, Adelman K, Bale SJ et al (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American college of medical genetics and genomics (vol 19, pg 249, 2016). Genet Med 19:484–485CrossRef
135.
Kamp NJ, Chery G, Kosinski AS et al (2021) Risk stratification using late gadolinium enhancement on cardiac magnetic resonance imaging in patients with hypertrophic cardiomyopathy: a systematic review and meta-analysis. Prog Cardiovasc Dis 66:10–16PubMedCrossRef
136.
Kannankeril PJ, Moore JP, Cerrone M et al (2017) Efficacy of flecainide in the treatment of catecholaminergic polymorphic ventricular tachycardia: a randomized clinical trial. JAMA Cardiol 2:759–766PubMedPubMedCentralCrossRef
137.
Kapplinger JD, Pundi KN, Larson NB et al (2018) Yield of the RYR2 genetic test in suspected catecholaminergic polymorphic ventricular tachycardia and implications for test interpretation. Circ Genom Precis Med 11:e1424PubMedPubMedCentralCrossRef
138.
Kaski JP, Syrris P, Burch M et al (2008) Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 94:1478–1484PubMedCrossRef
139.
Kayvanpour E, Sammani A, Sedaghat-Hamedani F et al (2021) A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk). Int J Cardiol 339:75–82PubMedCrossRef
140.
Kayvanpour E, Sedaghat-Hamedani F, Amr A et al (2017) Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. Clin Res Cardiol 106:127–139PubMedCrossRef
141.
Kelly MA, Caleshu C, Morales A et al (2018) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s inherited cardiomyopathy expert panel. Genet Med 20:351–359PubMedPubMedCentralCrossRef
142.
Khera AV, Won HH, Peloso GM et al (2016) Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 67:2578–2589PubMedPubMedCentralCrossRef
143.
144.
Kimura M, Fujisawa T, Aizawa Y et al (2017) An RyR2 mutation found in a family with a short-coupled variant of torsade de pointes. Int J Cardiol 227:367–369PubMedCrossRef
145.
Klaassen S, Kühnisch J, Schultze-Berndt A et al (2022) Left ventricular noncompaction in children: the role of genetics, morphology, and function for outcome. J Cardiovasc Dev Dis 9(7):206PubMedPubMedCentral
146.
Klaassen S, Probst S, Oechslin E et al (2008) Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117:2893–2901PubMedCrossRef
147.
Kohli SK, Pantazis AA, Shah JS et al (2008) Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J 29:89–95PubMedCrossRef
148.
Kusumoto FM, Schoenfeld MH, Barrett C et al (2019) 2018 ACC/AHA/HRS guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: a report of the American college of cardiology/American heart association task force on clinical practice guidelines and the heart rhythm society. Circulation 140:e382–e482PubMed
149.
Lahrouchi N, Tadros R, Crotti L et al (2020) Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome. Circulation 142:324–338PubMedPubMedCentralCrossRef
150.
Landstrom AP, Kim JJ, Gelb BD et al (2021) Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American heart association. Circ Genomic Precis Med 14:e86CrossRef
151.
Laurent G, Saal S, Amarouch MY et al (2012) Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. J Am Coll Cardiol 60:144–156PubMedCrossRef
152.
Lee YK, Sala L, Mura M et al (2021) MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes. Cardiovasc Res 117:767–779PubMedCrossRef
153.
154.
Liebrechts-Akkerman G, Liu F, van Marion R et al (2020) Explaining sudden infant death with cardiac arrhythmias: complete exon sequencing of nine cardiac arrhythmia genes in Dutch SIDS cases highlights new and known DNA variants. Forensic Sci Int Genet 46:102266PubMedCrossRef
155.
Linschoten M, Teske AJ, Baas AF et al (2017) Truncating titin (TTN) variants in chemotherapy-induced cardiomyopathy. J Card Fail 23:476–479PubMedCrossRef
156.
Loeys B, De Backer J, Van Acker P et al (2004) Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 24:140–146PubMedCrossRef
157.
Loeys BL, Chen J, Neptune ER et al (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275–281PubMedCrossRef
158.
Loeys BL, Dietz HC, Braverman AC et al (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476–485PubMedCrossRef
159.
Loeys BL, Schwarze U, Holm T et al (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355:788–798PubMedCrossRef
160.
Lord J, Mcmullan DJ, Eberhardt RY et al (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 393:747–757PubMedPubMedCentralCrossRef
161.
Luirink IK, Wiegman A, Kusters DM et al (2019) 20-year follow-up of statins in children with familial hypercholesterolemia. N Engl J Med 381:1547–1556PubMedCrossRef
162.
Maccarrick G, Black JH 3rd, Bowdin S et al (2014) Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med 16:576–587PubMedPubMedCentralCrossRef
163.
Mach F, Baigent C, Catapano AL et al (2020) 2019 ESC/EAS guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J 41:111–188PubMedCrossRef
164.
Mak CM, Mok NS, Shum HC et al (2019) Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives. Hong Kong Med J 25:21–29PubMed
165.
Malfait F, Francomano C, Byers P et al (2017) The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175:8–26PubMedCrossRef
166.
Marcus FI, Mckenna WJ, Sherrill D et al (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Eur Heart J 31:806–814PubMedPubMedCentralCrossRef
167.
168.
Maron BJ, Desai MY, Nishimura RA et al (2022) Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol 79:372–389PubMedCrossRef
169.
Maron BJ, Towbin JA, Thiene G et al (2006) Contemporary definitions and classification of the cardiomyopathies: an American heart association scientific statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention. Circulation 113:1807–1816PubMedCrossRef
170.
Marston NA, Han L, Olivotto I et al (2021) Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy. Eur Heart J 42:1988–1996PubMedPubMedCentralCrossRef
171.
Marstrand P, Picard K, Lakdawala NK (2020) Second hits in dilated cardiomyopathy. Curr Cardiol Rep 22:8PubMedCrossRef
172.
Matthijs G, Souche E, Alders M et al (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2–5PubMedCrossRef
173.
Mazzanti A, Maragna R, Vacanti G et al (2017) Hydroquinidine prevents life-threatening arrhythmic events in patients with short QT syndrome. J Am Coll Cardiol 70:3010–3015PubMedCrossRef
174.
Mazzanti A, Maragna R, Vacanti G et al (2018) Interplay between genetic substrate, QTc duration, and arrhythmia risk in patients with long QT syndrome. J Am Coll Cardiol 71:1663–1671PubMedCrossRef
175.
Mazzarotto F, Girolami F, Boschi B et al (2019) Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. Genet Med 21:284–292PubMedCrossRef
176.
177.
Mcdonagh TA, Metra M, Adamo M et al (2021) 2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J 42:3599–3726PubMedCrossRef
178.
Mckenna WJ, Maron BJ, Thiene G (2017) Classification, epidemiology, and global burden of cardiomyopathies. Circ Res 121:722–730PubMedCrossRef
179.
180.
Meester JAN, Verstraeten A, Schepers D et al (2017) Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 6:582–594PubMedPubMedCentralCrossRef
181.
Mehta A, Ramachandra CJA, Singh P et al (2018) Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model. Eur Heart J 39:1446–1455PubMedCrossRef
182.
Mellor GJ, Blom LJ, Groeneveld SA et al (2021) Familial evaluation in idiopathic ventricular fibrillation: diagnostic yield and significance of J wave syndromes. Circ Arrhythm Electrophysiol 14:e9089PubMedCrossRef
183.
Milewicz DM, Østergaard JR, Ala-Kokko LM et al (2010) De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 152A:2437–2443PubMedPubMedCentralCrossRef
184.
Milewicz DM, Regalado E (2017) Heritable thoracic aortic disease overview
185.
Miller DT, Lee K, Gordon AS et al (2021) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American college of medical genetics and genomics (ACMG). Genet Med 23:1391–1398PubMedCrossRef
186.
Milman A, Andorin A, Gourraud JB et al (2018) Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: data from the survey on arrhythmic events in BRUgada syndrome (SABRUS). Heart Rhythm 15:716–724PubMedCrossRef
187.
Miron A, Lafreniere-Roula M, Steve Fan CP et al (2020) A validated model for sudden cardiac death risk prediction in pediatric hypertrophic cardiomyopathy. Circulation 142:217–229PubMedPubMedCentralCrossRef
188.
Mital S, Musunuru K, Garg V et al (2016) Enhancing literacy in cardiovascular genetics: a scientific statement from the American heart association. Circ Cardiovasc Genet 9:448–467PubMedCrossRef
189.
Muchtar E, Blauwet LA, Gertz MA (2017) Restrictive cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 121:819–837PubMedCrossRef
190.
Mühlstädt K, De Backer J, von Kodolitsch Y et al (2019) Case-matched comparison of cardiovascular outcome in Loeys-Dietz syndrome versus Marfan syndrome. J Clin Med 8:E2079CrossRef
191.
Mulder BJM, van de Laar IMBH, De Backer J (2020) Heritable thoracic aortic diseases: syndromal and isolated (F)TAAD. In: Baars HF, Doevendans PAFM, Houweling AC, van Tintelen JP (Hrsg) Clinical cardiogenetics. Springer, Cham, S 309–343CrossRef
192.
Musunuru K, Hershberger RE, Day SM et al (2020) Genetic testing for inherited cardiovascular diseases: a scientific statement from the American heart association. Circ Genom Precis Med 13:e67PubMedCrossRef
193.
Musunuru K, Hickey KT, Al-Khatib SM et al (2015) Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American heart association. Circ Cardiovasc Genet 8:216–242PubMedPubMedCentralCrossRef
194.
Nafissi NA, Abdulrahim JW, Kwee LC et al (2022) Prevalence and phenotypic burden of monogenic arrhythmias using integration of electronic health records with genetics. Circ Genom Precis Med 15:e3675PubMedCrossRef
195.
Naraen A, Mckay V, Shaw M et al (2020) Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy. Eur J Prev Cardiol 27:777–779PubMedCrossRef
196.
Neves R, Tester DJ, Simpson MA et al (2022) Exome sequencing highlights a potential role for concealed cardiomyopathies in youthful sudden cardiac death. Circ Genom Precis Med 15:e3497PubMedCrossRef
197.
Nordestgaard BG, Chapman MJ, Humphries SE et al (2013) Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European atherosclerosis society. Eur Heart J 34:3478–3490aPubMedPubMedCentralCrossRef
198.
Norrish G, Ding T, Field E et al (2019) Development of a novel risk prediction model for sudden cardiac death in childhood hypertrophic cardiomyopathy (HCM risk-kids). JAMA Cardiol 4:918–927PubMedPubMedCentralCrossRef
199.
Norrish G, Kolt G, Cervi E et al (2021) Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study. ESC Heart Fail 8:5057–5067PubMedPubMedCentralCrossRef
200.
O’mahony C, Jichi F, Pavlou M et al (2014) A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J 35:2010–2020PubMedCrossRef
201.
O’sullivan JW, Raghavan S, Marquez-Luna C et al (2022) Polygenic risk scores for cardiovascular disease: a scientific statement from the. Am Heart Assoc Circ 146:e93–e118
202.
Oechslin E, Jenni R, Klaassen S (2021) Left ventricular noncompaction is a myocardial phenotype: cardiomyopathy-yes or no? Can J Cardiol 37:366–369PubMedCrossRef
203.
Oechslin EN, Attenhofer Jost CH, Rojas JR et al (2000) Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 36:493–500PubMedCrossRef
204.
Offerhaus JA, Bezzina CR, Wilde AAM (2020) Epidemiology of inherited arrhythmias. Nat Rev Cardiol 17:205–215PubMedCrossRef
205.
Olivotto I, Oreziak A, Barriales-Villa R et al (2020) Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 396:759–769PubMedCrossRef
206.
Ommen SR, Mital S, Burke MA et al (2020) 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American college of cardiology/American heart association joint committee on clinical practice guidelines. J Am Coll Cardiol 76:e159–e240PubMedCrossRef
207.
Overwater E, Marsili L, Baars MJH et al (2018) Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Hum Mutat 39:1173–1192PubMedPubMedCentralCrossRef
208.
Papadakis M, Papatheodorou E, Mellor G et al (2018) The diagnostic yield of Brugada syndrome after sudden death with normal autopsy. J Am Coll Cardiol 71:1204–1214PubMedCrossRef
209.
Peled Y, Gramlich M, Yoskovitz G et al (2014) Titin mutation in familial restrictive cardiomyopathy. Int J Cardiol 171:24–30PubMedCrossRef
210.
Peltenburg PJ, Kallas D, Bos JM et al (2022) An international multicenter cohort study on β‑blockers for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardia. Circulation 145:333–344PubMedCrossRef
211.
Pereira NL, Grogan M, Dec GW (2018) Spectrum of restrictive and infiltrative cardiomyopathies: part 1 of a 2-part series. J Am Coll Cardiol 71:1130–1148PubMedCrossRef
212.
Pereira NL, Grogan M, Dec GW (2018) Spectrum of restrictive and infiltrative cardiomyopathies: part 2 of a 2-part series. J Am Coll Cardiol 71:1149–1166PubMedCrossRef
213.
Pierpont ME, Brueckner M, Chung WK et al (2018) Genetic basis for congenital heart disease: revisited: a scientific statement from the American heart association. Circulation 138:e653–e711PubMedPubMedCentralCrossRef
214.
Pinto YM, Elliott PM, Arbustini E et al (2016) Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J 37:1850–1858PubMedCrossRef
215.
Plon SE, Eccles DM, Easton D et al (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29:1282–1291PubMedPubMedCentralCrossRef
216.
Ponikowski P, Voors AA, Anker SD et al (2016) 2016 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure: the task force for the diagnosis and treatment of acute and chronic heart failure of the European society of cardiology (ESC) developed with the special contribution of the heart failure association (HFA) of the ESC. Eur Heart J 37:2129–2200PubMedCrossRef
217.
Porta-Sanchez A, Priori SG (2021) Genetic abnormalities of the sinoatrial node and atrioventricular conduction. Card Electrophysiol Clin 13:625–639PubMedCrossRef
218.
Priori SG, Blomstrom-Lundqvist C (2015) 2015 European society of cardiology guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death summarized by co-chairs. Eur Heart J 36:2757–2759PubMedCrossRef
219.
Priori SG, Napolitano C, Schwartz PJ (1999) Low penetrance in the long-QT syndrome: clinical impact. Circulation 99:529–533PubMedCrossRef
220.
Priori SG, Wilde AA, Horie M et al (2013) HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm 10:1932–1963PubMedCrossRef
221.
Probst V, Goronflot T, Anys S et al (2021) Robustness and relevance of predictive score in sudden cardiac death for patients with Brugada syndrome. Eur Heart J 42:1687–1695PubMedCrossRef
222.
Protonotarios N, Tsatsopoulou A (2004) Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 13:185–194PubMedCrossRef
223.
Pruszczyk P, Kostera-Pruszczyk A, Shatunov A et al (2007) Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol 117:244–253PubMedCrossRef
224.
Purevjav E, Arimura T, Augustin S et al (2012) Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet 21:2039–2053PubMedPubMedCentralCrossRef
225.
Pyeritz R, Jondeau G, Moran R et al (2014) Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-beta signaling. Genet Med 16:641–642PubMedCrossRef
226.
Quarta G, Muir A, Pantazis A et al (2011) Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation 123:2701–2709PubMedCrossRef
227.
Raschwitz LS, El-Battrawy I, Schlentrich K et al (2019) Differences in short QT syndrome subtypes: a systematic literature review and pooled analysis. Front Genet 10:1312PubMedCrossRef
228.
Rehm HL, Bale SJ, Bayrak-Toydemir P et al (2013) ACMG clinical laboratory standards for next-generation sequencing. Genet Med 15:733–747PubMedPubMedCentralCrossRef
229.
230.
Renard M, Francis C, Ghosh R et al (2018) Clinical validity of genes for heritable thoracic aortic aneurysm and dissection. J Am Coll Cardiol 72:605–615PubMedPubMedCentralCrossRef
231.
Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424PubMedPubMedCentralCrossRef
232.
Richmond CM, James PA, Pantaleo SJ et al (2021) Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy. Genet Med 23:1108–1115PubMedCrossRef
233.
Riggs ER, Andersen EF, Cherry AM et al (2020) Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American college of medical genetics and genomics (ACMG) and the clinical genome resource (ClinGen). Genet Med 22:245–257PubMedCrossRef
234.
Roberts JD, Asaki SY, Mazzanti A et al (2020) An international multicenter evaluation of type 5 long QT syndrome: a low penetrant primary arrhythmic condition. Circulation 141:429–439PubMedPubMedCentralCrossRef
235.
Rojanasopondist P, Nesheiwat L, Piombo S et al (2022) Genetic basis of left ventricular noncompaction. Circ Genom Precis Med 15:e3517PubMedCrossRef
236.
Roston TM, Wei J, Guo W et al (2022) Clinical and functional characterization of ryanodine receptor 2 variants implicated in calcium-release deficiency syndrome. JAMA Cardiol 7:84–92PubMedCrossRef
237.
Rowin EJ, Maron BJ, Haas TS et al (2017) Hypertrophic cardiomyopathy with left ventricular apical aneurysm: implications for risk stratification and management. J Am Coll Cardiol 69:761–773PubMedCrossRef
238.
Rucinski C, Winbo A, Marcondes L et al (2020) A population-based registry of patients with inherited cardiac conditions and resuscitated cardiac arrest. J Am Coll Cardiol 75:2698–2707PubMedCrossRef
239.
Rüping U et al (2022) Ärztliche Aufklärungspflichten über die Möglichkeit von Nebenbefunden in der genomischen Medizin. MedR 40:663–667CrossRef
240.
Rybczynski M, Bernhardt AMJ, Rehder U et al (2008) The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A 146A:3157–3166PubMedCrossRef
241.
Sammani A, Kayvanpour E, Bosman LP et al (2020) Predicting sustained ventricular arrhythmias in dilated cardiomyopathy: a meta-analysis and systematic review. ESC Heart Fail 7:1430–1441PubMedPubMedCentralCrossRef
242.
Schmidtke J et al (2022) Nebenbefunde in der Genommedizin: Rechtliche Sprengkraft. Dtsch Arztebl Int 119:29–30
243.
244.
Schultze-Berndt A, Kuhnisch J, Herbst C et al (2021) Reduced systolic function and not genetic variants determine outcome in pediatric and adult left ventricular noncompaction cardiomyopathy. Front Pediatr 9:722926PubMedPubMedCentralCrossRef
245.
Schulze-Bahr E, Dettmeyer RB, Klingel K et al (2021) Postmortale molekulargenetische Untersuchungen (molekulare Autopsie) bei kardiovaskulären und bei ungeklärten Todesfällen. Kardiologe 15:176–193CrossRef
246.
Schulze-Bahr E, Klaassen S, Abdul-Khaliq H et al (2015) Gendiagnostik bei kardiovaskulären Erkrankungen. Kardiologe 9:213–243CrossRef
247.
Schulze-Bahr E, Klaassen S, Abdul-Khaliq H et al (2015) Molecular diagnosis for cardiovascular diseases. Dtsch Med Wochenschr 140:1538PubMed
248.
249.
Schwartz PJ, Crotti L (2011) QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation 124:2181–2184PubMedCrossRef
250.
Schwartz PJ, Gnecchi M, Dagradi F et al (2019) From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome type 2. Eur Heart J 40:1832–1836PubMedCrossRef
251.
Schwartz PJ, Priori SG, Spazzolini C et al (2001) Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103:89–95PubMedCrossRef
252.
253.
Schwartz PJ, Woosley RL (2016) Predicting the unpredictable: drug-induced QT prolongation and Torsades de pointes. J Am Coll Cardiol 67:1639–1650PubMedCrossRef
254.
Sedaghat-Hamedani F, Haas J, Zhu F et al (2017) Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. Eur Heart J 38:3449–3460PubMedCrossRef
255.
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF et al (2018) Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals. Clin Res Cardiol 107:30–41PubMedCrossRef
256.
Shalhub S, Byers PH, Hicks KL et al (2020) A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. J Vasc Surg 71:149–157PubMedCrossRef
257.
Sheikhzadeh S, Kusch ML, Rybczynski M et al (2012) A simple clinical model to estimate the probability of Marfan syndrome. QJM 105:527–535PubMedCrossRef
258.
Shimizu A, Zankov DP, Sato A et al (2020) Identification of transmembrane protein 168 mutation in familial Brugada syndrome. Faseb J 34:6399–6417PubMedCrossRef
259.
Sifrim A, Hitz MP, Wilsdon A et al (2016) Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet 48:1060–1065PubMedPubMedCentralCrossRef
260.
Sinagra G, Elliott PM, Merlo M (2020) Dilated cardiomyopathy: so many cardiomyopathies! Eur Heart J 41:3784–3786PubMedCrossRef
261.
Smith ED, Lakdawala NK, Papoutsidakis N et al (2020) Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy. Circulation 141:1872–1884PubMedPubMedCentralCrossRef
262.
Smogavec M, Neesen J, Laccone F (2019) Genetische Diagnostik. Wien Klin Wochenschr Educ 14:29–47CrossRef
263.
Sonoda K, Ohno S, Shimizu Y et al (2020) SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes. Pacing Clin Electrophysiol 43:456–461PubMedCrossRef
264.
Spertus JA, Fine JT, Elliott P et al (2021) Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 397:2467–2475PubMedCrossRef
265.
Sreenivasan S, Monaghan M, Baranchuk A (2018) Multifactorial Brugada phenocopy. JAMA Intern Med 178:872–873PubMedCrossRef
266.
Stiles MK, Wilde AAM, Abrams DJ et al (2021) 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm 18:e1–e50PubMedCrossRef
267.
Strauss DG, Vicente J, Johannesen L et al (2017) Common genetic variant risk score is associated with drug-induced QT prolongation and Torsade de pointes risk: a pilot study. Circulation 135:1300–1310PubMedPubMedCentralCrossRef
268.
Sturm AC, Knowles JW, Gidding SS et al (2018) Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel. J Am Coll Cardiol 72:662–680PubMedCrossRef
269.
270.
271.
Tadros R, Francis C, Xu X et al (2021) Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat Genet 53:128–134PubMedPubMedCentralCrossRef
272.
Tadros R, Nannenberg EA, Lieve KV et al (2017) Yield and pitfalls of ajmaline testing in the evaluation of unexplained cardiac arrest and sudden unexplained death: single-center experience with 482 families. JACC Clin Electrophysiol 3:1400–1408PubMedCrossRef
273.
Takagi H, Umemoto T (2016) Simple renal cyst and abdominal aortic aneurysm. J Vasc Surg 63:254–259.e1PubMedCrossRef
274.
Talmud PJ, Shah S, Whittall R et al (2013) Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 381:1293–1301PubMedCrossRef
275.
Tan HL, Hofman N, van Langen IM et al (2005) Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 112:207–213PubMedCrossRef
276.
Taylor MR, Fain PR, Sinagra G et al (2003) Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 41:771–780PubMedCrossRef
277.
Towbin JA, Mckenna WJ, Abrams DJ et al (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm 16:e301–e372PubMedCrossRef
278.
Watkins WS, Hernandez EJ, Wesolowski S et al (2019). De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nat Commun 10:4722PubMedPubMedCentralCrossRef
279.
Vaidya VR, Lyle M, Miranda WR et al (2021) Long-term survival of patients with left ventricular noncompaction. J Am Heart Assoc 10:e15563PubMedPubMedCentralCrossRef
280.
van de Laar I, Arbustini E, Loeys B et al (2019) European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. Orphanet J Rare Dis 14:264PubMedPubMedCentralCrossRef
281.
van der Zwaag PA, van Rijsingen IA, Asimaki A et al (2012) Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 14:1199–1207PubMedPubMedCentralCrossRef
282.
van Rijsingen IA, Arbustini E, Elliott PM et al (2012) Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 59:493–500PubMedCrossRef
283.
van Waning JI, Caliskan K, Hoedemaekers YM et al (2018) Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy. J Am Coll Cardiol 71:711–722PubMedCrossRef
284.
285.
Verstraelen TE, van Lint FHM, Bosman LP et al (2021) Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction. Eur Heart J 42:2842–2850PubMedPubMedCentralCrossRef
286.
Vink AS, Neumann B, Lieve KVV et al (2018) Determination and interpretation of the QT interval. Circulation 138:2345–2358PubMedCrossRef
287.
Voigt N, Ort K, Sossalla S (2019) Drug-drug interactions you should know! Dtsch Med Wochenschr 144:264–275PubMed
288.
von Kodolitsch Y, De Backer J, Schüler H et al (2015) Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 8:137–155CrossRef
289.
von Kodolitsch Y, Kutsche K (2017) Genetic diagnostics of inherited aortic diseases : medical strategy analysis. Herz 42:459–467CrossRef
290.
von Kodolitsch Y, Rybczynski M, Vogler M et al (2016) The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. J Multidiscip Healthc 9:587–614CrossRef
291.
292.
Walsh R, Lahrouchi N, Tadros R et al (2021) Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med 23:47–58PubMedCrossRef
293.
Walsh R, Offerhaus JA, Tadros R et al (2022) Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies. Nat Rev Cardiol 19:151–167PubMedCrossRef
294.
Walsh R, Thomson KL, Ware JS et al (2017) Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med 19:192–203PubMedCrossRef
295.
Ware JS, Amor-Salamanca A, Tayal U et al (2018) Genetic etiology for alcohol-induced cardiac toxicity. J Am Coll Cardiol 71:2293–2302PubMedPubMedCentralCrossRef
296.
Ware JS, Li J, Mazaika E et al (2016) Shared genetic predisposition in peripartum and dilated cardiomyopathies. N Engl J Med 374:233–241PubMedPubMedCentralCrossRef
297.
298.
Weerakkody R, Ross D, Parry DA et al (2018) Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. Genet Med 20:1414–1422PubMedPubMedCentralCrossRef
299.
300.
Weinsaft JW, Devereux RB, Preiss LR et al (2016) Aortic dissection in patients with genetically mediated aneurysms: incidence and predictors in the genTAC registry. J Am Coll Cardiol 67:2744–2754PubMedPubMedCentralCrossRef
301.
Wilcox JE, Hershberger RE (2018) Genetic cardiomyopathies. Curr Opin Cardiol 33:354–362PubMedCrossRef
302.
Wilde Aa M, Amin AS (2018) Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy. JACC Clin Electrophysiol 4:569–579PubMedCrossRef
303.
304.
305.
Wilson KL, Czerwinski JL, Hoskovec JM et al (2013) NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Counsel 22:4–15CrossRef
306.
Wooderchak-Donahue W, Vansant-Webb C, Tvrdik T et al (2015) Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am J Med Genet A 167a:1747–1757PubMedCrossRef
307.
Yamagata K, Horie M, Aiba T et al (2017) Genotype-phenotype correlation of SCN5A mutation for the clinical and electrocardiographic characteristics of probands with Brugada syndrome: a Japanese multicenter registry. Circulation 135:2255–2270PubMedCrossRef
308.
Yang A, Alankarage D, Cuny H et al (2022) CHDgene: a curated database for congenital heart disease genes. Circ Genom Precis Med 15:e3539PubMedCrossRef
309.
Yuan SM (2019) Fetal arrhythmias: genetic background and clinical implications. Pediatr Cardiol 40:247–256PubMedCrossRef
310.
311.
Zegkos T, Panagiotidis T, Parcharidou D et al (2021) Emerging concepts in arrhythmogenic dilated cardiomyopathy. Heart Fail Rev 26:1219–1229PubMedCrossRef
312.
313.
Zhang ZH, Barajas-Martinez H, Xia H et al (2021) Distinct features of probands with early repolarization and Brugada syndromes carrying SCN5A pathogenic variants. J Am Coll Cardiol 78:1603–1617PubMedPubMedCentralCrossRef
314.
Ziganshin BA, Bailey AE, Coons C et al (2015) Routine genetic testing for thoracic aortic aneurysm and dissection in a clinical setting. Ann Thorac Surg 100:1604–1611PubMedCrossRef
315.
Ziganshin BA, Theodoropoulos P, Salloum MN et al (2016) Simple renal cysts as markers of thoracic aortic disease. J Am Heart Assoc 5:e2248PubMedPubMedCentralCrossRef
Metadaten
Titel
Gendiagnostik bei kardiovaskulären Erkrankungen
Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), der Gesellschaft für Humangenetik (GfH) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK)
verfasst von
Univ.-Prof. Dr. med. E. Schulze-Bahr
S. Klaassen
B. Gerull
Y. von Kodolitsch
U. Landmesser
O. Rieß
B. Meder
H. Schunkert
Publikationsdatum
30.08.2023

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