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Erschienen in: Current Heart Failure Reports 5/2019

26.06.2019 | Updates in Advanced Heart Failure (E. Rame and M. St. John Sutton, Section Editors)

From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies

verfasst von: Nosheen Reza, Kiran Musunuru, Anjali Tiku Owens

Erschienen in: Current Heart Failure Reports | Ausgabe 5/2019

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Abstract

Purpose

The purpose of this review is to provide an update on the recent advances in the research and clinical care of patients with the major phenotypes of inherited cardiomyopathies—hypertrophic, dilated, and arrhythmogenic. Developments in genetics, risk stratification, therapies, and disease modeling will be discussed.

Recent

Diagnostic, prognostic, and therapeutic tools which incorporate genetic and genomic data are being steadily incorporated into the routine clinical care of patients with genetic cardiomyopathies. Human pluripotent stem cells are a breakthrough model system for the study of genetic variation associated with inherited cardiovascular disease.

Summary

Next-generation sequencing technology and molecular-based diagnostics and therapeutics have emerged as valuable tools to improve the recognition and care of patients with hypertrophic, dilated, and arrhythmogenic cardiomyopathies. Improved adjudication of variant pathogenicity and management of genotype-positive/phenotype-negative individuals are imminent challenges in this realm of precision medicine.
Literatur
1.
2.
Zurück zum Zitat Fontaine G, Guiraudon G, Frank R, Vedel J, Grosgogeat Y, Cabrol C, et al. Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanisms and selection for surgery. In: Re-entrant arrhythmias: mechanisms and treatment. Baltimore: University Park Press; 1977. Fontaine G, Guiraudon G, Frank R, Vedel J, Grosgogeat Y, Cabrol C, et al. Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanisms and selection for surgery. In: Re-entrant arrhythmias: mechanisms and treatment. Baltimore: University Park Press; 1977.
3.
Zurück zum Zitat Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65(2):384–98.PubMed Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65(2):384–98.PubMed
4.
Zurück zum Zitat Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. 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. 2006;113(14):1807–16. https://doi.org/10.1161/circulationaha.106.174287.CrossRefPubMed Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. 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. 2006;113(14):1807–16. https://​doi.​org/​10.​1161/​circulationaha.​106.​174287.CrossRefPubMed
10.
Zurück zum Zitat • Bagnall RD, Ingles J, Dinger ME, Cowley MJ, Ross SB, Minoche AE, et al. Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2018;72(4):419–29. https://doi.org/10.1016/j.jacc.2018.04.078 This study demonstrates the utility of whole genome sequencing to identify causes of HCM in cases that were not diagnosed with targeted testing. CrossRefPubMed • Bagnall RD, Ingles J, Dinger ME, Cowley MJ, Ross SB, Minoche AE, et al. Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2018;72(4):419–29. https://​doi.​org/​10.​1016/​j.​jacc.​2018.​04.​078 This study demonstrates the utility of whole genome sequencing to identify causes of HCM in cases that were not diagnosed with targeted testing. CrossRefPubMed
12.
Zurück zum Zitat Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2011;58(25):e212–60. https://doi.org/10.1016/j.jacc.2011.06.011.CrossRefPubMed Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2011;58(25):e212–60. https://​doi.​org/​10.​1016/​j.​jacc.​2011.​06.​011.CrossRefPubMed
13.
Zurück zum Zitat Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. 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. 2014;35(39):2733–79. https://doi.org/10.1093/eurheartj/ehu284.CrossRefPubMed Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. 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. 2014;35(39):2733–79. https://​doi.​org/​10.​1093/​eurheartj/​ehu284.CrossRefPubMed
14.
Zurück zum Zitat Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults. Circulation. 1995;92(4):785–9.PubMed Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults. Circulation. 1995;92(4):785–9.PubMed
15.
Zurück zum Zitat Hada Y, Sakamoto T, Amano K, Yamaguchi T, Takenaka K, Takahashi H, et al. Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening. Am J Cardiol. 1987;59(1):183–4.PubMed Hada Y, Sakamoto T, Amano K, Yamaguchi T, Takenaka K, Takahashi H, et al. Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening. Am J Cardiol. 1987;59(1):183–4.PubMed
16.
Zurück zum Zitat Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med. 2004;116(1):14–8.PubMed Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med. 2004;116(1):14–8.PubMed
17.
Zurück zum Zitat Maron BJ, Mathenge R, Casey SA, Poliac LC, Longe TF. Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities. J Am Coll Cardiol. 1999;33(6):1590–5.PubMed Maron BJ, Mathenge R, Casey SA, Poliac LC, Longe TF. Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities. J Am Coll Cardiol. 1999;33(6):1590–5.PubMed
18.
Zurück zum Zitat Maron BJ, Spirito P, Roman MJ, Paranicas M, Okin PM, Best LG, et al. Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study). Am J Cardiol. 2004;93(12):1510–4.PubMed Maron BJ, Spirito P, Roman MJ, Paranicas M, Okin PM, Best LG, et al. Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study). Am J Cardiol. 2004;93(12):1510–4.PubMed
19.
Zurück zum Zitat Maro E, Janabi M, Kaushik R. Clinical and echocardiographic study of hypertrophic cardiomyopathy in Tanzania. Trop Dr. 2006;36(4):225–7. Maro E, Janabi M, Kaushik R. Clinical and echocardiographic study of hypertrophic cardiomyopathy in Tanzania. Trop Dr. 2006;36(4):225–7.
20.
Zurück zum Zitat Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1249–54.PubMed Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1249–54.PubMed
21.
Zurück zum Zitat Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, et al. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet. 2010;53(5):261–7.PubMed Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, et al. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet. 2010;53(5):261–7.PubMed
22.
Zurück zum Zitat Kaski JP, Syrris P, Esteban MTT, Jenkins S, Pantazis A, Deanfield JE, et al. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circ: Genom Precision Med. 2009;2(5):436–41. Kaski JP, Syrris P, Esteban MTT, Jenkins S, Pantazis A, Deanfield JE, et al. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circ: Genom Precision Med. 2009;2(5):436–41.
23.
Zurück zum Zitat Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003;64(4):339–49.PubMed Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003;64(4):339–49.PubMed
24.
Zurück zum Zitat Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107(17):2227–32.PubMed Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107(17):2227–32.PubMed
25.
Zurück zum Zitat Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'donoghue A, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995;332(16):1058–65.PubMed Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'donoghue A, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995;332(16):1058–65.PubMed
26.
Zurück zum Zitat Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997;16(4):379–82.PubMed Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997;16(4):379–82.PubMed
27.
Zurück zum Zitat Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H-P, et al. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994;77(5):701–12.PubMed Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H-P, et al. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994;77(5):701–12.PubMed
30.
31.
Zurück zum Zitat Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008;17(18):2753–65.PubMed Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008;17(18):2753–65.PubMed
33.
Zurück zum Zitat Marian AJ. The case of “missing causal genes” and the practice of medicine: a Sherlock Holmes approach of deductive reasoning. Circ Res. 2016;119(1):21–4.PubMedPubMedCentral Marian AJ. The case of “missing causal genes” and the practice of medicine: a Sherlock Holmes approach of deductive reasoning. Circ Res. 2016;119(1):21–4.PubMedPubMedCentral
34.
Zurück zum Zitat Li L, Bainbridge MN, Tan Y, Willerson JT, Marian AJ. A potential oligogenic etiology of hypertrophic cardiomyopathy: a classic single-gene disorder. Circ Res. 2017;120(7):1084–90.PubMedPubMedCentral Li L, Bainbridge MN, Tan Y, Willerson JT, Marian AJ. A potential oligogenic etiology of hypertrophic cardiomyopathy: a classic single-gene disorder. Circ Res. 2017;120(7):1084–90.PubMedPubMedCentral
37.
Zurück zum Zitat Gilligan DM, Chan WL, Joshi J, Clarke P, Fletcher A, Krikler S, et al. A double-blind, placebo-controlled crossover trial of nadolol and verapamil in mild and moderately symptomatic hypertrophic cardiomyopathy. J Am Coll Cardiol. 1993;21(7):1672–9.PubMed Gilligan DM, Chan WL, Joshi J, Clarke P, Fletcher A, Krikler S, et al. A double-blind, placebo-controlled crossover trial of nadolol and verapamil in mild and moderately symptomatic hypertrophic cardiomyopathy. J Am Coll Cardiol. 1993;21(7):1672–9.PubMed
43.
Zurück zum Zitat Rowin EJ, Maron BJ, Abt P, Kiernan MS, Vest A, Costantino F, et al. Impact of advanced therapies for improving survival to heart transplant in patients with hypertrophic cardiomyopathy. Am J Cardiol. 2018;121(8):986–96.PubMed Rowin EJ, Maron BJ, Abt P, Kiernan MS, Vest A, Costantino F, et al. Impact of advanced therapies for improving survival to heart transplant in patients with hypertrophic cardiomyopathy. Am J Cardiol. 2018;121(8):986–96.PubMed
45.
Zurück zum Zitat Vriesendorp PA, Schinkel AF, Liebregts M, Theuns DA, van Cleemput J, ten Cate FJ, et al. Validation of the 2014 European Society of Cardiology guidelines risk prediction model for the primary prevention of sudden cardiac death in hypertrophic cardiomyopathy. Circ Arrhythm Electrophysiol. 2015;8(4):829–35.PubMed Vriesendorp PA, Schinkel AF, Liebregts M, Theuns DA, van Cleemput J, ten Cate FJ, et al. Validation of the 2014 European Society of Cardiology guidelines risk prediction model for the primary prevention of sudden cardiac death in hypertrophic cardiomyopathy. Circ Arrhythm Electrophysiol. 2015;8(4):829–35.PubMed
46.
Zurück zum Zitat Maron BJ, Casey SA, Chan RH, Garberich RF, Rowin EJ, Maron MS. Independent assessment of the European Society of Cardiology sudden death risk model for hypertrophic cardiomyopathy. Am J Cardiol. 2015;116(5):757–64.PubMed Maron BJ, Casey SA, Chan RH, Garberich RF, Rowin EJ, Maron MS. Independent assessment of the European Society of Cardiology sudden death risk model for hypertrophic cardiomyopathy. Am J Cardiol. 2015;116(5):757–64.PubMed
47.
Zurück zum Zitat Fernández A, Quiroga A, Ochoa JP, Mysuta M, Casabé JH, Biagetti M, et al. Validation of the 2014 European Society of Cardiology sudden cardiac death risk prediction model in hypertrophic cardiomyopathy in a reference center in South America. Am J Cardiol. 2016;118(1):121–6.PubMed Fernández A, Quiroga A, Ochoa JP, Mysuta M, Casabé JH, Biagetti M, et al. Validation of the 2014 European Society of Cardiology sudden cardiac death risk prediction model in hypertrophic cardiomyopathy in a reference center in South America. Am J Cardiol. 2016;118(1):121–6.PubMed
48.
Zurück zum Zitat Ruiz-Salas A, García-Pinilla J, Cabrera-Bueno F, Fernández-Pastor J, Peña-Hernández J, Medina-Palomo C, et al. Comparison of the new risk prediction model (HCM risk-SCD) and classic risk factors for sudden death in patients with hypertrophic cardiomyopathy and defibrillator. Europace. 2016;18(5):773.PubMed Ruiz-Salas A, García-Pinilla J, Cabrera-Bueno F, Fernández-Pastor J, Peña-Hernández J, Medina-Palomo C, et al. Comparison of the new risk prediction model (HCM risk-SCD) and classic risk factors for sudden death in patients with hypertrophic cardiomyopathy and defibrillator. Europace. 2016;18(5):773.PubMed
50.
Zurück zum Zitat Chan RH, Maron BJ, Olivotto I, Pencina MJ, Assenza GE, Haas T, et al. Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation. 2014;130(6):484–95.PubMed Chan RH, Maron BJ, Olivotto I, Pencina MJ, Assenza GE, Haas T, et al. Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation. 2014;130(6):484–95.PubMed
51.
Zurück zum Zitat Mentias A, Raeisi-Giglou P, Smedira NG, Feng K, Sato K, Wazni O, et al. Late gadolinium enhancement in patients with hypertrophic cardiomyopathy and preserved systolic function. J Am Coll Cardiol. 2018;72(8):857–70.PubMed Mentias A, Raeisi-Giglou P, Smedira NG, Feng K, Sato K, Wazni O, et al. Late gadolinium enhancement in patients with hypertrophic cardiomyopathy and preserved systolic function. J Am Coll Cardiol. 2018;72(8):857–70.PubMed
52.
Zurück zum Zitat • Kramer CM, Appelbaum E, Desai MY, Desvigne-Nickens P, JP DM, Friedrich MG, et al. Hypertrophic cardiomyopathy registry: the rationale and design of an international, observational study of hypertrophic cardiomyopathy. Am Heart J. 2015;170(2):223–30 This article reviews the design of the highly anticipated international Hypertrophic Cardiomyopathy Registry.PubMedPubMedCentral • Kramer CM, Appelbaum E, Desai MY, Desvigne-Nickens P, JP DM, Friedrich MG, et al. Hypertrophic cardiomyopathy registry: the rationale and design of an international, observational study of hypertrophic cardiomyopathy. Am Heart J. 2015;170(2):223–30 This article reviews the design of the highly anticipated international Hypertrophic Cardiomyopathy Registry.PubMedPubMedCentral
53.
Zurück zum Zitat van Velzen HG, Vriesendorp PA, Oldenburg RA, van Slegtenhorst MA, van der Velden J, Schinkel AF, et al. Value of genetic testing for the prediction of long-term outcome in patients with hypertrophic cardiomyopathy. Am J Cardiol. 2016;118(6):881–7.PubMed van Velzen HG, Vriesendorp PA, Oldenburg RA, van Slegtenhorst MA, van der Velden J, Schinkel AF, et al. Value of genetic testing for the prediction of long-term outcome in patients with hypertrophic cardiomyopathy. Am J Cardiol. 2016;118(6):881–7.PubMed
56.
Zurück zum Zitat Ho CY, McMurray JJ, Cirino AL, Colan SD, Day SM, Desai AS, et al. The design of the valsartan for attenuating disease evolution in early sarcomeric hypertrophic cardiomyopathy (VANISH) trial. Am Heart J. 2017;187:145–55.PubMedPubMedCentral Ho CY, McMurray JJ, Cirino AL, Colan SD, Day SM, Desai AS, et al. The design of the valsartan for attenuating disease evolution in early sarcomeric hypertrophic cardiomyopathy (VANISH) trial. Am Heart J. 2017;187:145–55.PubMedPubMedCentral
57.
Zurück zum Zitat Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. 2016;351(6273):617–21.PubMedPubMedCentral Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. 2016;351(6273):617–21.PubMedPubMedCentral
61.
Zurück zum Zitat Lund LH, Khush KK, Cherikh WS, Goldfarb S, Kucheryavaya AY, Levvey BJ, et al. The registry of the International Society for Heart and Lung Transplantation: thirty-fourth adult heart transplantation report—2017; focus theme: allograft ischemic time. J Heart Lung Transplant. 2017;36(10):1037–46.PubMed Lund LH, Khush KK, Cherikh WS, Goldfarb S, Kucheryavaya AY, Levvey BJ, et al. The registry of the International Society for Heart and Lung Transplantation: thirty-fourth adult heart transplantation report—2017; focus theme: allograft ischemic time. J Heart Lung Transplant. 2017;36(10):1037–46.PubMed
62.
Zurück zum Zitat Sefa MO, Tuluce K, Yakar ST, Kilic S, Soner HK, Sayin A, et al. Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy. Herz. 2017;42(7):669–76. Sefa MO, Tuluce K, Yakar ST, Kilic S, Soner HK, Sayin A, et al. Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy. Herz. 2017;42(7):669–76.
63.
Zurück zum Zitat Bozkurt B, Colvin M, Cook J, Cooper LT, Deswal A, Fonarow GC, et al. Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association. Circulation. 2016;134(23):e579–646.PubMed Bozkurt B, Colvin M, Cook J, Cooper LT, Deswal A, Fonarow GC, et al. Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association. Circulation. 2016;134(23):e579–646.PubMed
64.
Zurück zum Zitat Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE, Drazner MH, et al. 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. J Am Coll Cardiol. 2013;62(16):e147–239.PubMed Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE, Drazner MH, et al. 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. J Am Coll Cardiol. 2013;62(16):e147–239.PubMed
65.
Zurück zum Zitat Petretta M, Pirozzi F, Sasso L, Paglia A, Bonaduce D. Review and metaanalysis of the frequency of familial dilated cardiomyopathy. Am J Cardiol. 2011;108(8):1171–6.PubMed Petretta M, Pirozzi F, Sasso L, Paglia A, Bonaduce D. Review and metaanalysis of the frequency of familial dilated cardiomyopathy. Am J Cardiol. 2011;108(8):1171–6.PubMed
66.
Zurück zum Zitat Mestroni L, Maisch B, McKenna W, Schwartz K, Charron P, Rocco C, et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J. 1999;20(2):93–102.PubMed Mestroni L, Maisch B, McKenna W, Schwartz K, Charron P, Rocco C, et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J. 1999;20(2):93–102.PubMed
68.
Zurück zum Zitat • Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J. 2014;36(18):1123–35 This study is a comprehensive investigation of the genetics of DCM in a large-scale cohort. PubMed • Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J. 2014;36(18):1123–35 This study is a comprehensive investigation of the genetics of DCM in a large-scale cohort. PubMed
69.
Zurück zum Zitat Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, et al. Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation. 2013;128(25):2813–51.PubMed Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, et al. Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation. 2013;128(25):2813–51.PubMed
72.
Zurück zum Zitat Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014;16(8):601–8.PubMed Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014;16(8):601–8.PubMed
73.
Zurück zum Zitat Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, et al. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Genom Precis Med. 2014;7(6):751–9. Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, et al. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Genom Precis Med. 2014;7(6):751–9.
77.
Zurück zum Zitat Akinrinade O, Koskenvuo JW, Alastalo T-P. Prevalence of titin truncating variants in general population. PLoS One. 2015;10(12):e0145284.PubMedPubMedCentral Akinrinade O, Koskenvuo JW, Alastalo T-P. Prevalence of titin truncating variants in general population. PLoS One. 2015;10(12):e0145284.PubMedPubMedCentral
80.
Zurück zum Zitat Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008;156(1):161–9.PubMedPubMedCentral Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008;156(1):161–9.PubMedPubMedCentral
81.
Zurück zum Zitat van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007;154(6):1130–9.PubMed van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007;154(6):1130–9.PubMed
83.
Zurück zum Zitat Fatkin D, Macrae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999;341(23):1715–24.PubMed Fatkin D, Macrae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999;341(23):1715–24.PubMed
85.
Zurück zum Zitat Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med. 2006;354(2):209–10.PubMed Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med. 2006;354(2):209–10.PubMed
87.
Zurück zum Zitat • Kumar S, Baldinger SH, Gandjbakhch E, Maury P, Sellal J-M, Androulakis AF, et al. Long-term arrhythmic and nonarrhythmic outcomes of lamin A/C mutation carriers. J Am Coll Cardiol. 2016;68(21):2299–307 This article contributes important natural history and prognostic information about LMNA -related heart disease.PubMed • Kumar S, Baldinger SH, Gandjbakhch E, Maury P, Sellal J-M, Androulakis AF, et al. Long-term arrhythmic and nonarrhythmic outcomes of lamin A/C mutation carriers. J Am Coll Cardiol. 2016;68(21):2299–307 This article contributes important natural history and prognostic information about LMNA -related heart disease.PubMed
89.
Zurück zum Zitat Priori SG, Blomstrom-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, et al. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36(41):2793–867. https://doi.org/10.1093/eurheartj/ehv316.CrossRefPubMed Priori SG, Blomstrom-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, et al. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36(41):2793–867. https://​doi.​org/​10.​1093/​eurheartj/​ehv316.CrossRefPubMed
90.
Zurück zum Zitat McNair WP, Sinagra G, Taylor MR, Di Lenarda A, Ferguson DA, Salcedo EE, et al. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011;57(21):2160–8.PubMed McNair WP, Sinagra G, Taylor MR, Di Lenarda A, Ferguson DA, Salcedo EE, et al. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011;57(21):2160–8.PubMed
92.
Zurück zum Zitat Van Der Zwaag PA, Van Rijsingen IA, Asimaki A, Jongbloed JD, Van Veldhuisen DJ, Wiesfeld AC, et al. 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. 2012;14(11):1199–207.PubMedPubMedCentral Van Der Zwaag PA, Van Rijsingen IA, Asimaki A, Jongbloed JD, Van Veldhuisen DJ, Wiesfeld AC, et al. 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. 2012;14(11):1199–207.PubMedPubMedCentral
95.
Zurück zum Zitat Tse HF, Ho JC, Choi SW, Lee YK, Butler AW, Ng KM, et al. Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing. Hum Mol Genet. 2013;22(7):1395–403. https://doi.org/10.1093/hmg/dds556.CrossRefPubMed Tse HF, Ho JC, Choi SW, Lee YK, Butler AW, Ng KM, et al. Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing. Hum Mol Genet. 2013;22(7):1395–403. https://​doi.​org/​10.​1093/​hmg/​dds556.CrossRefPubMed
105.
Zurück zum Zitat Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy, or myocarditis? Circulation. 1996;94(5):983–91.PubMed Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy, or myocarditis? Circulation. 1996;94(5):983–91.PubMed
106.
Zurück zum Zitat Asimaki A, Saffitz JE. The role of endomyocardial biopsy in ARVC: looking beyond histology in search of new diagnostic markers. J Cardiovasc Electrophysiol. 2011;22(1):111–7.PubMed Asimaki A, Saffitz JE. The role of endomyocardial biopsy in ARVC: looking beyond histology in search of new diagnostic markers. J Cardiovasc Electrophysiol. 2011;22(1):111–7.PubMed
107.
Zurück zum Zitat Lopez-Ayala JM, Pastor-Quirante F, Gonzalez-Carrillo J, Lopez-Cuenca D, Sanchez-Munoz JJ, Oliva-Sandoval MJ, et al. Genetics of myocarditis in arrhythmogenic right ventricular dysplasia. Heart Rhythm. 2015;12(4):766–73.PubMed Lopez-Ayala JM, Pastor-Quirante F, Gonzalez-Carrillo J, Lopez-Cuenca D, Sanchez-Munoz JJ, Oliva-Sandoval MJ, et al. Genetics of myocarditis in arrhythmogenic right ventricular dysplasia. Heart Rhythm. 2015;12(4):766–73.PubMed
109.
Zurück zum Zitat Sen-Chowdhry S, Syrris P, Prasad SK, Hughes SE, Merrifield R, Ward D, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol. 2008;52(25):2175–87.PubMed Sen-Chowdhry S, Syrris P, Prasad SK, Hughes SE, Merrifield R, Ward D, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol. 2008;52(25):2175–87.PubMed
115.
Zurück zum Zitat • Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R. Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia. J Am Coll Cardiol. 2018;72(7):784–804 This is an excellent review of ARVC/D by the group involved in its early description.PubMed • Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R. Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia. J Am Coll Cardiol. 2018;72(7):784–804 This is an excellent review of ARVC/D by the group involved in its early description.PubMed
119.
Zurück zum Zitat Hodgkinson K, Connors S, Merner N, Haywood A, Young TL, McKenna W, et al. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p. S358L mutation in TMEM43. Clin Genet. 2013;83(4):321–31.PubMed Hodgkinson K, Connors S, Merner N, Haywood A, Young TL, McKenna W, et al. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p. S358L mutation in TMEM43. Clin Genet. 2013;83(4):321–31.PubMed
120.
Zurück zum Zitat Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015;36(14):847–55.PubMed Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015;36(14):847–55.PubMed
121.
Zurück zum Zitat James CA, Bhonsale A, Tichnell C, Murray B, Russell SD, Tandri H, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy–associated desmosomal mutation carriers. J Am Coll Cardiol. 2013;62(14):1290–7.PubMed James CA, Bhonsale A, Tichnell C, Murray B, Russell SD, Tandri H, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy–associated desmosomal mutation carriers. J Am Coll Cardiol. 2013;62(14):1290–7.PubMed
123.
Zurück zum Zitat •• Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. 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. Genet Med. 2017;19(2):249 This policy statement provides an update regarding the clinician's responsibility of reporting of secondary findings in clinical genetic sequencing.PubMed •• Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. 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. Genet Med. 2017;19(2):249 This policy statement provides an update regarding the clinician's responsibility of reporting of secondary findings in clinical genetic sequencing.PubMed
Metadaten
Titel
From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies
verfasst von
Nosheen Reza
Kiran Musunuru
Anjali Tiku Owens
Publikationsdatum
26.06.2019
Verlag
Springer US
Erschienen in
Current Heart Failure Reports / Ausgabe 5/2019
Print ISSN: 1546-9530
Elektronische ISSN: 1546-9549
DOI
https://doi.org/10.1007/s11897-019-00435-0

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