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Journal of Inherited Metabolic Disease

Erschienen in:

19.07.2017 | Review

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

verfasst von: D. Marques-da-Silva, R. Francisco, D. Webster, V. dos Reis Ferreira, J. Jaeken, T. Pulinilkunnil

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2017

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Abstract

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways. The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. This work may contribute to improved early management of cardiac complications in CDG.

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Alazami AM, Al-Qattan SM, Faqeih E (2016) Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet. doi:10.1007/s00439-016-1660-z

Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M (2008) A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A 146A:813–819PubMedCrossRef

Allali S, Le Goff C, Pressace-Diebold I et al (2011) Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 48:417–421PubMedPubMedCentralCrossRef

Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J (2010) A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 5:7PubMedPubMedCentralCrossRef

AlSubhi S, AlHashem A, AlAzami A et al (2015) Further delineation of the ALG9-CDG phenotype. JIMD Rep 27:107–112PubMedPubMedCentralCrossRef

Althoff SS, Grueneberg M, Reunert J et al (2016) TMEM165 deficiency: postnatal changes in glycosylation. JIMD Rep 26:21–29CrossRef

Arimura T, Inagaki N, Hayashi T et al (2009) Impaired binding of ZASP/cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. Cardiovasc Res 83:80–88PubMedCrossRef

Aronica E, van Kempen AA, van der Heide M et al (2005) Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109:433–442PubMedCrossRef

Ashraf GM, Bilal N, Suhail N, Hasan S, Banu N (2010) Glycosylation of purified buffalo heart galectin-1 plays crucial role in maintaining its structural and functional integrity. Biochemistry (Mosc) 75:1450–1457CrossRef

Baasanjav S, Al-Gazali L, Hashiguchi T et al (2011) Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89:15–27PubMedPubMedCentralCrossRef

Baycin-Hizal D, Gottschalk A, Jacobson E et al (2015) Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function. Biochem Biophys Res Commun 453:243–253CrossRef

Bello L, Melacini P, Pezzani R et al (2012) Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 20:1234–1239PubMedPubMedCentralCrossRef

Boito CA, Melacini P, Vianello A et al (2005) Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 62:1894–1899PubMedCrossRef

Bourteel H, Vermersch P, Cuisset JM et al (2009) Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. J Neurol Neurosurg Psychiatry 80:1405–1408PubMedCrossRef

Brady PD, Moerman P, De Catte L et al (2014) Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. Eur J Med Genet 57:487–493PubMedCrossRef

Brockington M, Blake DJ, Prandini P et al (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69:1198–1209PubMedPubMedCentralCrossRef

Cantagrel V, Lefeber D (2011) From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases. J Inherit Metab Dis 34:859–867PubMedPubMedCentralCrossRef

Cantagrel V, Lefeber DJ, Ng BG et al (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 142:203–217PubMedPubMedCentralCrossRef

Chang Y, Twiss JL, Horoupian DS, Caldwell SA, Johnston KM (1993) Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case. Acta Neuropathol 86:399–404PubMedCrossRef

Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 15:857–861PubMedCrossRef

Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R (2008) Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Am J Med Genet A 146A(3):389–392

Cotarelo RP, Valero MC, Prados B et al (2008) Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet 73:139–145PubMedCrossRef

D’Amico A, Petrini S, Parisi F et al (2008) Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. Neuromuscul Disord 18:153–155PubMedCrossRef

Dassie-Ajdid J, Causse A, Poidvin A et al (2009) Novel B3GALTL mutation in Peters-plus syndrome. Clin Genet 76:490–492PubMedCrossRef

de Lonlay P, Seta N, Barrot S et al (2001) A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 38:14–19PubMedPubMedCentralCrossRef

Du D, Yang H, Ednie AR, Bennet ES (2017) In-silico modeling of the functional role of reduced sialylation in sodium and potassium channel gating of mouse ventricular myocytes. IEEE J Biomed Health Inform. doi:10.1109/JBHI.2017.2664579

Ednie AR, Bennett ES (2015) Reduced sialylation impacts ventricular repolarization by modulating specific K+ channel isoforms distinctly. J Biol Chem 290:2769–2783PubMedCrossRef

Ednie AR, Horton KK, Wu J, Bennett ES (2013) Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction. J Mol Cell Cardiol 59:117–127PubMedCrossRef

Faletra F, Athanasakis E, Minen F et al (2011) Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 32:256–258PubMedCrossRef

Fauth C, Steindl K, Toutain A et al (2016) A recurrent Germline mutation in the PIGA Gene causes Simpson–Golabi–Behmel syndrome type 2. Am J Med Genet A 170A:392–402PubMedCrossRef

Feldman BJ, Rosenthal D (2002) Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid. Pediatr Cardiol 23:469–471PubMedCrossRef

Fleming L, Lemmon M, Beck N et al (2016) Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. Am J Med Genet A 170A:77–86PubMedCrossRef

Foulquier F, Vasile E, Schollen E et al (2006) Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A 103:3764–3769PubMedPubMedCentralCrossRef

Funke S, Gardeitchik T, Kouwenberg D et al (2013) Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A 161A:578–584PubMedCrossRef

Gehrmann J, Sohlbach K, Linnebank M et al (2003) Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young 13:345–351PubMed

Haldeman-Englert CR, Naeem T, Geiger EA et al (2009) A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A 149A:1842–1845PubMedPubMedCentralCrossRef

Heinonen TYK, Pasternack L, Lindfors K et al (2003) A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. BBRC 309:166–174PubMed

Heinonen TYK, Pelto-Huikko M, Pasternack L et al (2006) Murine ortholog of the novel glycosyltransferase, B3GTL: primary structure, characterization of the gene and transcripts, and expression in tissues. DNA Cell Biol 8:465–474CrossRef

Hollingsworth KG, Willis TA, Bates MG et al (2013) Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. Eur J Heart Fail 15:986–994PubMedCrossRef

Işıkay S, Başpınar O, Yılmaz K (2014) A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. Iran J Pediatr 24:652–654PubMedPubMedCentral

Jaeken J, Morava E (2016) Congenital disorders of glycosylation and dolichol and glycosylphosphatidylinositol metabolism. In: Baumgartner W (ed) Inborn metabolic diseases. Diagnosis and treatment. Saudubray, 6th edn. Springer-Verlag, Berlin Heidelberg, pp 607–622CrossRef

Job F, Mizumoto S, Smith L et al (2016) Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. BMC Med Genet 17:86PubMedPubMedCentralCrossRef

Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC (2015) A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. Am J Med Genet A 167A:2691–2696PubMedCrossRef

Kapusta L, Zucker N, Frenckel G et al (2013) From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev 18:187–196PubMedCrossRef

Kasapkara CS, Tümer L, Ezgü FS et al (2012) SRD5A3-CDG: a patient with a novel mutation. Eur J Paediatr Neurol 16:554–556PubMedCrossRef

Kefi M, Amouri R, Chabrak S, Mechmeche R, Hentati F et al (2008) Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Neuropediatrics 39:113–115PubMedCrossRef

Kiarash A, Kelly CE, Phinney BS, Valdivia HH, Abrams J, Cala SE (2004) Defective glycosylation of calsequestrin in heart failure. Cardiovasc Res 63:264–272PubMedCrossRef

Klcovansky J, Mørkrid L, Möller T (2016) Heart transplantation in a child with congenital disorder of glycosylation. J Heart Lung Transplant 35:1048–1049PubMedCrossRef

Kranz C, Jungeblut C, Denecke J et al (2007a) A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 80:433–440PubMedPubMedCentralCrossRef

Kranz C, Basinger AA, Güçsavas-Calikoglu M et al (2007b) Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A 143A:1371–1378PubMedCrossRef

Kristiansson B, Stibler H, Conradi N, Eriksson BO, Ryd W (1998) The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I). J Inherit Metab Dis 21:112–124PubMedCrossRef

Kusa J, Pyrkosz A, Skiba A, Szkutnik M (2003) Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome. Pediatr Cardiol 24:493–494PubMedCrossRef

Kvarnung M, Nilsson D, Lindstrand A et al (2013) A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet 50:521–528PubMedCrossRef

Lam C, Golas GA, Davids M et al (2015) Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Mol Genet Metab 115:128–140PubMedCrossRef

Le Goff C, Morice-Picard F, Dagoneau N et al (2008) ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation. Nat Genet 40:1119–1123PubMedPubMedCentralCrossRef

Lefeber DJ, Schönberger J, Morava E et al (2009) Deficiency of Dol-P-man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 85:76–86PubMedPubMedCentralCrossRef

Lefeber DJ, de Brouwer AP, Morava E et al (2011) Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet 7:e1002427PubMedPubMedCentralCrossRef

Lesnik Oberstein SAJ, Kriek M, White SJ et al (2006) Peters plus Ssndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562–566PubMedPubMedCentralCrossRef

Liang WC, Hayashi YK, Ogawa M et al (2013) Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord 23:675–681PubMedCrossRef

Lieu MT, Ng BG, Rush JS et al (2013) Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab 110:484–489PubMedPubMedCentralCrossRef

Louhichi N, Triki C, Quijano-Roy S et al (2004) New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics 5:27–34PubMedCrossRef

Malhotra A, Pateman A, Chalmers R, Coman D, Menahem S (2009) Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagn Ther 25:54–57PubMedCrossRef

Margeta M, Connolly AM, Winder TL, Pestronk A, Moore SA (2009) Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. Muscle Nerve 40:883–889PubMedPubMedCentralCrossRef

Marquardt T, Hülskamp G, Gehrmann J, Debus V, Harms E, Kehl HG (2002) Severe transient myocardial ischemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 161:524–527PubMedCrossRef

Marques-da-Silva D, Dos Reis FV, Monticelli M et al (2017) Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis. doi:10.1007/s10545-016-0012-4

Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL (2014) Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. Eur J Hum Genet 22:486–491PubMedCrossRef

Maydan G, Noyman I, Har-Zahav A et al (2011) Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet 48:383–389PubMedCrossRef

McInerney-Leo AM, Harris JE, Gattas M et al (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat 37:695–702PubMedCrossRef

Mercuri E, Brockington M, Straub V et al (2003) Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 53:537–542PubMedCrossRef

Miura K, Shirasawa H (1987) Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. Acta Pathol Jpn 37:1823–1835PubMed

Monticelli M, Ferro T, Jaeken J, Dos Reis FV, Videira PA (2016) Immunological aspects of congenital disorders of glycosylation (CDG): a review. J Inherit Metab Dis 39:765–780PubMedCrossRef

Montpetit ML, Stocker PJ, Schwetz TA (2009) Regulated and aberrant glycosylation modulate cardiac electrical signaling. Proc Natl Acad Sci U S A 106:16517–16522PubMedPubMedCentralCrossRef

Morava E, Zeevaert R, Korsch E et al (2007) A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet 15:638–645PubMedCrossRef

Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S (2005) Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord 15:372–376PubMedCrossRef

Munns CF, Fahiminiya S, Poudel N (2015) Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96:971–978PubMedPubMedCentralCrossRef

Murakami T, Hayashi YK, Noguchi S et al (2006) Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 60:597–602PubMedCrossRef

Nagai-Okatani C, Minamino N (2016) Aberrant glycosylation in the left ventricle and plasma of rats with cardiac hypertrophy and heart failure. PLoS One 11:e0150210PubMedPubMedCentralCrossRef

Nakagawa Y, Nishikimi T, Kuwahara K et al (2017) MiR30-GALNT1/2 Axis-Mediated Glycosylation Contributes to the Increased Secretion of Inactive Human Prohormone for Brain Natriuretic Peptide (proBNP) From Failing Hearts. J Am Heart Assoc 6. doi:10.1161/JAHA.116.003601.

Nakanishi T, Sakauchi M, Kaneda Y et al (2006) Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 117:e1187–e1192PubMedCrossRef

Nakashima M, Kashii H, Murakami Y et al (2014) Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics 15:193–200PubMedCrossRef

Noelle V, Knuepfer M, Pulzer F et al (2005) Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 164:225–226CrossRef

Pane M, Messina S, Vasco G et al (2012) Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 22:685–689PubMedPubMedCentralCrossRef

Petersen MB, Brostrøm K, Stibler H, Skovby F (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 122(1):66–70

Poppe M, Bourke J, Eagle M (2004) Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 56:738–741PubMedCrossRef

Reis LM, Tylor RC, Abdul-Rahman O et al (2008) Mutation analysis of B3GALTL in Peters plus syndrome. Am J Med Genet A 146A:2603–2610PubMedPubMedCentralCrossRef

Resende C, Carvalho C, Alegria A et al (2014) Congenital disorders of glycosylation with neonatal presentation. BMJ Case Rep

Rohlfing A-K, Rust S, Reunert J et al (2014) ALG1-CDG: a new case with early fatal outcome. Gene 534:345–351PubMedCrossRef

Romano S, Bajolle F, Valayannopoulos V et al (2009) Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). J Med Genet 46:287–288PubMedCrossRef

Rosales XQ, Moser SJ, Tran T (2011) Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I. J Cardiovasc Magn Reson 13:39PubMedPubMedCentralCrossRef

Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP (2012) Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. Pediatr Cardiol 33:827–830PubMedCrossRef

Rymen D, Peanne R, Millón MB et al (2013) MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet 9:e1003989PubMedPubMedCentralCrossRef

Schollen E, Keldermans L, Foulquier F et al (2007) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 90:408–413PubMedCrossRef

Schrapers E, Tegtmeyer LC, Simic-Schleicher G et al (2016) News on clinical details and treatment in PGM1-CDG. JIMD Rep 26:77–84PubMedCrossRef

Shashi V, Zunich J, Kelly TE, Fryburg JS (1995) Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. J Med Genet 32:465–469PubMedPubMedCentralCrossRef

Sparks SE, Krasnewich DM (2014) Congenital disorders of N-linked glycosylation. Pathway overview. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, LJH B, Bird TD, Fong CT, Mefford HC, RJH S, Stephens K (eds) GeneReviews® [Internet]. University of Washington, Seattle, pp 1993–2016

Strømme P, Maehlen J, Strøm EH, Torvik A (1991) Postmortem findings in two patients with the carbohydrate deficient glycoprotein syndrome. Acta Pediatr Scand Suppl 375:55–62CrossRef

Sun L, Eklund EA, Chung WK et al (2005) Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab 90:4371–4375PubMedCrossRef

Sveen ML, Schwartz M, Vissing J (2006) High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 59:808–815PubMedCrossRef

Sveen ML, Thune JJ, Køber L, Vissing J (2008) Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. Arch Neurol 65:1196–1201PubMedCrossRef

Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S et al (2015) The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Rare Dis 10:23PubMedPubMedCentralCrossRef

Taylan F, Costantini A, Coles N et al (2016) Spondyloocular syndrome: novel mutations in XYLT2 Gene and Expansion of the phenotypic Spectrum. J Bone Miner Res 31:1577–1585PubMedCrossRef

Tegtmeyer LC, Rust S, van Scherpenzeel M et al (2014) Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 370:533–542PubMedPubMedCentralCrossRef

Tham E, Eklund EA, Hammarsjö A (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet 24:198–207PubMedCrossRef

Thiel C, Körner C (2011) Mouse models for congenital disorders of glycosylation. J Inherit Metab Dis 34:879–889PubMedCrossRef

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O et al (2009) Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. J Inherit Metab Dis 32(Suppl 1):S41–S44PubMedCrossRef

Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21:4151–4161PubMedCrossRef

Truin G, Guillard M, Lefeber DJ et al (2008) Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab 94:481–484PubMedCrossRef

Van Damme T, Gardeitchik T, Mohamed M et al (2017) Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. Am J Hum Genet 100:1–12CrossRef

van de Kamp JM, Lefeber DJ, Ruijter GJ et al (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44:277–280PubMedCrossRef

Vasudevan D, Takeuchi H, Johar SS et al (2015) Peters plus syndrome mutations disrupt a noncanonical ER quality control mechanism. Curr Biol 25:286–295PubMedCrossRef

Vesela K, Honzik T, Hansikova H (2009) A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis 32 Suppl 1. doi:10.1007/s10545-009-1203-z.

Vleugels W, Keldermans L, Jaeken J et al (2009) Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. Glycobiology 19:910–917PubMedCrossRef

Vodovar N, Séronde MF, Laribi S et al (2014) Post-translational modifications enhance NT-proBNP and BNP production in acute decompensated heart failure. Eur Heart J 35:3434–3441PubMedCrossRef

von Oettingen JE, Tan WH, Dauber A (2014) Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. Am J Med Genet A 164A:1580–1586CrossRef

Wahbi K, Meune C, Hamouda el H et al (2008) Cardiac assessment of limb–girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 18:650–655PubMedCrossRef

Walter MC, Petersen JA, Stucka R et al (2004) FKRP (826C>a) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 41:e50PubMedPubMedCentralCrossRef

Weh E, Reis LM, Tyler RC et al (2014) Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet 86:142–148PubMedCrossRef

Weinstein M, Schollen MG et al (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet 136A:194–197CrossRef

Wong SY, Beamer LJ, Gadomski T et al (2016) Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency. J Pediatr 175:130–136PubMedCrossRef

Wu X, Steet RA, Bohorov O et al (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10:518–523PubMedCrossRef

Yanagisawa A, Bouchet C, Van den Bergh PY et al (2007) New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology 69:1254–1260PubMedCrossRef

Yilmaz A, Gdynia HJ, Ponfick M, Ludolph AC, Rösch S, Sechtem U (2011) The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I). Clin Res Cardiol 100:611–615PubMedCrossRef

Zeevaert R, Foulquier F, Cheillan D et al (2009) A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Eur J Med Genet 52:303–305PubMedCrossRef

Titel: Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
verfasst von: D. Marques-da-Silva
R. Francisco
D. Webster
V. dos Reis Ferreira
J. Jaeken
T. Pulinilkunnil
Publikationsdatum: 19.07.2017
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2017
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0066-y

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Weitere Artikel der Ausgabe 5/2017

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome

Risk factors for poor bone health in primary mitochondrial disease

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Wie erfolgreich ist eine Re-Ablation nach Rezidiv?

Europäische Ernährungsgewohnheiten: Das sind die häufigsten Fehler

Hinter dieser Appendizitis steckte ein Erreger

Demenzkranke durch Antipsychotika vielfach gefährdet

Update Innere Medizin