Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

European Journal of Human Genetics

Volumn 23, Issue 7, 2015, Pages 922-928

  Wessels, Marja W ^a   Herkert, Johanna C ^b   Frohn Mulder, Ingrid M ^a   Dalinghaus, Michiel ^a   Van Den Wijngaard, Arthur ^c   De Krijger, Ronald R ^a   Michels, Michelle ^a   De Coo, Irenaeus Fm ^a   Hoedemaekers, Yvonne M ^b   Dooijes, Dennis ^d  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CONSANGUINITY; CYANOSIS; DYSPNEA; ELECTROCARDIOGRAPHY; FAILURE TO THRIVE; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FAMILY HISTORY; FEEDING DIFFICULTY; FEMALE; GENE; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HEART FAILURE; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; M MODE ECHOCARDIOGRAPHY; MALE; MYBPC3 GENE; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; SYSTOLIC DYSFUNCTION; TWO DIMENSIONAL ECHOCARDIOGRAPHY; VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; FATALITY; GENETIC PREDISPOSITION; GENETICS; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS; MUTATION; NEWBORN;

CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION;

EID: 84930866020     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.211     Document Type: Article

References (40)

1. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE: Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardio-graphic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995; 92: 785-789.
2. Alcalai R, Seidman JG, Seidman CE: Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophys 2008; 19: 104-110.
3. Bos JM, Ommen SR, Ackerman MJ: Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?. Curr Opin Cardiol 2007; 22: 193-199.
4. Lopes LR, Rahman MS, Elliott PM: A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations. Heart 2013; 99: 1800-1811.
5. Daw EW, Chen SN, Czernuszewicz G et al: Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum Molec Genet 2007; 16: 3463-3471.
6. Morita H, Rehm HL, Menesses A et al: Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 2008; 358: 1899-1908.
7. Grenier MA, Osganian SK, Cox GF et al: Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J 2000; 139: S86-S95.
8. Jenni R, Oechslin EN, van der Loo B: Isolated ventricular non-compaction of the myocardium in adults. Heart 2007; 93: 11-15.
9. Hoedemaekers YM, Caliskan K, Michels M et al: The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet 2010; 3: 232-239.
10. Alders M, Jongbloed R, Deelen W et al: The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003; 24: 1848-1853.
11. Christiaans I, Nannenberg EA, Dooijes D et al: Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J 2010; 18: 248-254.
12. Klaassen S, Probst S, Oechslin E et al: Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008; 117: 2893-2901.
13. Probst S, Oechslin E, Schuler P et al: Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet 2011; 4: 367-374.
14. Richard P, Charron P, Carrier L et al: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227-2232.
15. Van Driest SL, Vasile VC, Ommen SR et al: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44: 1903-1910.
16. Niimura H, Bachinski LL, Sangwatanaroj S et al: Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248-1257.
17. Moolman JA, Reith S, Uhl K et al: A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation 2000; 101: 1396-1402.
18. van Dijk SJ, Dooijes D, dos Remedios C et al: Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphor-ylation, and cardiomyocyte dysfunction. Circulation 2009; 119: 1473-1483.
19. Rottbauer W, Gautel M, Zehelein J et al: Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein. J Clin Invest 1997; 100: 475-482.
20. Maron BJ, Maron MS, Semsarian C: Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. Heart Rhythm 2012; 9: 57-63.
21. Nanni L, Pieroni M, Chimenti C et al: Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Comm 2003; 309: 391-398.
22. Garcia-Castro M, Reguero JR, Alvarez V et al: Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect. Int J Cardiol 2005; 102: 501-507.
23. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet 2005; 42: e59.
24. Otsuka H, Arimura T, Abe T et al: Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. Circ J 2012; 76: 453-461.
25. Dellefave LM, Pytel P, Mewborn S et al: Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet 2009; 2: 442-449.
26. Girolami F, Ho CY, Semsarian C et al: Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 2010; 55: 1444-1453.
27. Marziliano N, Merlini PA, Vignati G et al: A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. Neonatology 2012; 102: 254-258.
28. Garcia-Castro M, Coto E, Reguero JR et al: [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Rev Esp Cardiol 2009; 62: 48-56.
29. Saltzman AJ, Mancini-DiNardo D, Li C et al: Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyo-pathy. Circ Res 2010; 106: 1549-1552.
30. Bashyam MD, Purushotham G, Chaudhary AK et al: A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. Molec Cell Biochem 2012; 360: 373-382.
31. Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H: Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. Am J Med Genet A 2007; 143A: 2662-2667.
32. Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J et al: Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet 2006; 43: 829-832.
33. Zahka K, Kalidas K, Simpson MA et al: Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency amongst the Amish. Heart 2008; 94: 1326-1330.
34. Ortiz MF, Rodriguez-Garcia MI, Hermida-Prieto M et al: A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy. Rev Esp Cardiol 2009; 62: 572-575.
35. Tajsharghi H, Leren TP, Abdul-Hussein S et al: Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet 2010; 47: 575-577.
36. Ching YH, Ghosh TK, Cross SJ et al: Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005; 37: 423-428.
37. Zhu L, Vranckx R, Khau Van Kien P et al: Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006; 38: 343-349.
38. Matsson H, Eason J, Bookwalter CS et al: Alpha-cardiac actin mutations produce atrial septal defects. Hum Molec Genet 2008; 17: 256-265.
39. Tsai SF, Ebenroth ES, Hurwitz RA, Cordes TM, Schamberger MS, Batra AS: Is left ventricular noncompaction in children truly an isolated lesion?. Pediatr Cardiol 2009; 30: 597-602.
40. Wessels MW, Willems PJ: Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations. Clin Genet 2008; 74: 16-19.