Familial dilated cardiomyopathy: Clinical and genetic characteristics

Herz

Volumn 37, Issue 8, 2012, Pages 822-829

  Serio, A ^a   Narula, N ^a   Kodama, T ^a   Favalli, V ^a   Arbustini, E ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Clinical heterogeneity; Familial dilated cardiomyopathy; Family screening; Genetic heterogeneity; Genetic testing

Indexed keywords

ARTICLE; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; FAMILIAL DILATED CARDIOMYOPATHY; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC TRAIT; GENOTYPE; HUMAN; LINKAGE ANALYSIS; PHENOTYPE; SPORADIC CARDIOMYOPATHY; GENETICS; HEART FAILURE; HEART LEFT VENTRICLE FUNCTION; METHODOLOGY;

CARDIOMYOPATHY, DILATED; GENETIC TESTING; HEART FAILURE; HUMANS; VENTRICULAR DYSFUNCTION, LEFT;

EID: 84878893874     PISSN: 03409937     EISSN: 16156692     Source Type: Journal    
DOI: 10.1007/s00059-012-3707-9     Document Type: Article

References (53)

1. 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 29:270-276
2. Piran S, Liu P, Morales A, Hershberger RE (2012) Where genome meets phenome: rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure. J Am Coll Cardiol 60:283-289
3. Gruenig E, Tasman JA, Kuecherer H et al (1998) Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 31:186-194
4. Baig MK, Goldman JH, Caforio AL et al (1998) Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 31:195-201
5. Gavazzi A, Repetto A, Scelsi L et al (2001) Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics. Eur Heart J 22:73-81
6. Crispell KA, Hanson EL, Coates K et al (2002) Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 39:1503-1507
7. Michels VV, Olson TM, Miller FA et al (2003) Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy. Am J Cardiol 9:1389-1392
8. Murphy RT, Thaman R, Blanes JG et al (2005) Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 26:187-192
9. Mahon NG, Murphy RT, MacRae CA et al (2005) Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med 143:108-115
10. Caforio ALP, Mahon NG, Baig MK et al (2007) Prospective familial assessment in dilated cardiomyopathy. Cardiac autoantibodies predict disease development in asymptomatic relatives. Circulation 115:76-83
11. Repetto A, Serio A, Pasotti M et al (2004) Re-screening of "healthy" relatives of patients with dilated cardiomyopathy identifies subgroups at risk of developing the disease. Eur Heart J S6:F54-F60
12. McKenna WJ, Spirito P, Desnos M et al (1997) Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 77:130-132
13. Nava A, Bauce B, Basso C et al (2000) Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 36:2226-2233
14. Hamid MS, Norman M, Quraishi A et al (2002) Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 40:1445-1450
15. Charron P, Arad M, Arbustini E et al (2010) Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 3:2715-2726
16. Norton N, Li D, Hershberger RE (2012) Next-generation sequencing to identify genetic causes of cardiomyopathies. Curr Opin Cardiol 27:214-220
17. Basso C, Corrado D, Thiene G (1999) Cardiovascular causes of sudden death in young individuals including athletes. Cardiol Rev 7:127-135
18. Maron BJ (2009) Sudden death in hypertrophic cardiomyopathy. J Cardiovasc Transl Res 2:368-380
19. Fiset C, Giles WR (2008) Cardiac troponin T mutations promote life-threatening arrhythmias. J Clin Invest 118:3845-3847
20. Hershberger RE, Lindenfeld J, Mestroni L et al (2009) Genetic evaluation of cardiomyopathy - a Heart Failure Society of America practice guideline. J Card Fail 15:83-97
21. Arbustini E, Morbini P, Pilotto A et al (2000) Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. Eur Heart J 21:1825-1832
22. Willott RH, Gomes AV, Chang AN et al (2010) Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function? J Mol Cell Cardiol 48:882-892
23. Elliott P, O'Mahony C, Syrris P et al (2010) Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. Circ Cardiovasc Genet 3:314-322
24. Møller DV, Andersen PS, Hedley P et al (2009) The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet 17:1241-1249
25. Diegoli M, Grasso M, Favalli V et al (2011) Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol 58:925-934
26. Marziliano N, Mannarino S, Nespoli L et al (2007) Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet A 143A:907-915
27. Sakata K, Shimizu M, Ino H et al (2005) High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 111:3352-3358
28. Wicks EC, Elliott PM (2012) Genetics and metabolic cardiomyopathies. Herz [Epub ahead of print]
29. Lindqvist P, Mörner S, Olofsson BO et al (2010) Ventricular dysfunction in type 1 myotonic dystrophy: electrical, mechanical, or both? Int J Cardiol 143:378-384
30. Zaragoza MV, Arbustini E, Narula J (2007) Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr 19:619-627
31. Arbustini E, Pilotto A, Repetto A et al (2002) Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 39:981-990
32. Thrush PT, Allen HD, Viollet L, Mendell JR (2009) Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol 103:262-265
33. Zwaag PA van der, Rijsingen IA van, 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 [Epub ahead of print]
34. Marcus FI, McKenna WJ, Sherrill D et al (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 121:1533-1541
35. Arbustini E, Morbini P, Pilotto A et al (2000) Genetics of idiopathic dilated cardiomyopathy. Herz 25:156-160
36. Mohammed S, Bahitham W, Chan A et al (2012) Mitochondrial DNA related cardiomyopathies. Front Biosci 4:1706-1716
37. Inagaki N, Hayashi T, Arimura T et al (2006) Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun 342:379-386
38. Schönberger J, Levy H, Grünig E et al (2000) Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. Circulation 101:1812-1818
39. Poulsen SH, Søgaard P, Nielsen-Kudsk JE, Egeblad H (2003) Dilated cardiomyopathy in Friedreich's ataxia: 2D echo and tissue-Doppler analysis of left ventricular and atrial function. Eur J Echocardiogr 4:331-333
40. Marín-García J, Goldenthal MJ, Filiano JJ (2002) Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. J Child Neurol 17:759-765
41. Harakalova M, Harssel JJ van, Terhal PA et al (2012) Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet 44:793-796
42. Bienengraeber M, Olson TM, Selivanov VA et al (2004) ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet 36:382-387
43. Jonkman MF, Pasmooij AM, Pasmans SG et al (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653-660
44. Rapezzi C, Arbustini E, Caforio A et al (2012) Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on myocardial and pericardial diseases. Eur Heart J (In press
45. Herman DS, Lam L, Taylor MR et al (2012) Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366:619-628
46. Lakdawala NK, Funke BH, Baxter S et al (2012) Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail 18:296-303
47. Kapranov P, Ozsolak F, Milos PM (2012) Profiling of short RNAs using Helicos single-molecule sequencing. Methods Mol Biol 822:219-232
48. Siegfried JD, Morales A, Kushner JD et al (2012) Return of genetic results in the familial dilated cardiomyopathy research project. J Genet Couns [Epub ahead of print]
49. Pasotti M, Klersy C, Pilotto A et al (2008) Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 52:1250-1260
50. Rijsingen IA van, 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 59:493-500
51. Garcia-Pavia P, Syrris P, Salas C et al (2011) Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. Heart 97:1744-1752
52. Vatta M, Mohapatra B, Jimenez S et al (2003) Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 42:2014-2027
53. Meder B, Haas J, Keller A et al (2011) Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 4:110-122