Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy

South African Medical Journal

Volumn 101, Issue 6, 2011, Pages 394-398

  Ntusi, Ntobeko B A ^a   Wonkam, Ambroise ^c   Shaboodien, Gasnat ^a   Badri, Motasim ^b   Mayosi, Bongani M ^b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL GENETICS; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ELECTROCARDIOGRAM; FAMILIAL DISEASE; FEMALE; HEART CATHETERIZATION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE FUNCTION; HUMAN; MAJOR CLINICAL STUDY; MALE; PATIENT REFERRAL; PEDIGREE ANALYSIS; PERIPARTUM CARDIOMYOPATHY; RACE DIFFERENCE; RETROSPECTIVE STUDY; TERTIARY HEALTH CARE;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHY, DILATED; FEMALE; HUMANS; MALE; PEDIGREE; PERIPARTUM PERIOD; PREGNANCY; PREGNANCY COMPLICATIONS; RETROSPECTIVE STUDIES; SOUTH AFRICA;

EID: 79958069725     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology working group on myocardial and pericardial diseases. Eur Heart J 2008;29:270-276.
2. Davies MJ. The cardiomyopathies: An overview. Heart 2000;83:469-474.
3. Codd MB, Sugrue DD, Gersh BJ, Melton LJ III. Epidemiology of idiopathic dilated cardiomyopathy and hypertrophic cardiomyopathy: a population-based study in Olmsted Country, Minnesota, 1975-1984. Circulation 1989;80:564-570.
4. Ntusi NBA, Mayosi BM. The epidemiology of heart failure in Sub-Saharan Africa. Expert Rev Cardiovasc Ther 2009;7:169-180.
5. Schmidt MA, Michels VV, Edwards WD, Miller FA. Familial dilated cardiomyopathy. Am J Med Genet 1988;31:135-143.
6. Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992;326:77-82.
7. Keeling PJ, Gang Y, Smith G, et al. Familial dilated cardiomyopathy in the United Kingdom. Heart 1995;73:417-421.
8. Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005;45:969-981.
9. Morita H, Seidman J, Seidman CE. Genetic causes of human heart failure. J Clin Invest 2005;115:518-526.
10. Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology 2000;94:1-11.
11. Michels VV, Driscoll DJ, Miller FA, et al. Progression of familial and non-familial dilated cardiomyopathy: long term follow up. Heart 2003;89:757-761.
12. Mayosi BM, Somers K. Cardiomyopathy in Africa: heredity versus environment. Cardiovasc J S Afr 2007;18:175-179.
13. Mestroni L, Maisch B, McKenna WJ, et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J 1999;20:93-102.
14. Evans W. Familial cardiomegaly. Br Heart J 1949;11:68-82.
15. Judge DP. Use of genetics in the clinical evaluation of cardiomyopathy. J Am Med Assoc 2009;302:2471-2476.
16. Van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, et al. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation 2010;121:2169-2175.
17. Fragola PV, Autore C, Picelli A, et al. Familial idiopathic dilated cardiomyopathy. Am Heart J 1988;115:912-914.
18. Griffin M, Hernandez A, Martin T, et al. Dilated cardiomyopathy in infants and children. J Am Coll Cardiol 1988;11:139-144.
19. McKenna C, Codd M, McCann H, et al. Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution. Heart 1997;77:549-552.
20. Grünig E, Tasman JA, Kücherer H, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998;31:186-194.
21. Baig MK, Goldman JH, Caforio AP, et al. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998;31:195-201.
22. Coughlin SS, Comstock GW, Baughman KL. Descriptive epidemiology of idiopathic dilated cardiomyopathy in Washington County, Maryland 1975-1991. J Clin Epidemiol 1993;46:1003-1009.
23. Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 2006;296:1867-1876.
24. Sliwa K, Damasceno A, Mayosi BM. Epidemiology and etiology of cardiomyopathy in Africa. Circulation 2005;112:3577-3583.
25. Moretti M, Merlo M, Barbati G, et al. Prognostic impact of familial screening in dilated cardiomyopathy. Eur J Heart Fail 2010;12(9):922-927.
26. Michels VV, Driscoll DJ, Miller FA Jr. Familial aggregation of idiopathic dilated cardiomyopathy. J Am Coll Cardiol 1985;55:1232-1233.
27. Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for phenotypic and genetic heterogeneity. J Am Coll Cardiol 1999;34:181-190.
28. Marenberg ME, Risch N, Berkman LF, et al. Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med 1994;330:1041-1046.
29. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet 2005;6:185-216.
30. Khogali SS, Mayosi BM, Beattie JM, et al. A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations. Lancet 2001;357:1265-1267.
31. Du Preez J, Matolweni LO, Greenberg J, et al. The alpha(2C) Del322-325 adrenergic receptor polymorphism is not associated with heart failure due to idiopathic dilated cardiomyopathy in black Africans. Cardiovasc J Afr 2008;19:15-16.
32. Seliem MA, Mansara KB, Palileo M, et al. Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the eastern province of Saudi Arabia. Pediatr Res 2000;48:770-775.
33. Murphy RT, Mogensen J, Shaw A, et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004;363:371-372.
34. Muntoni F, Cau M, Ganau A, et al. Brief report: Deletion of the dystrophin muscle-promoter region associated with X-liked dilated cardiomyopathy. N Engl J Med 1993;329:921-925.
35. Franz WM, Muller M, Muller OJ, et al. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet 2000;355:1781-1785.
36. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study. Lancet 1999;353:2116-2119.
37. Palmucci L, Mongini T, Chiado-Piat L, et al. Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. Neurology 2000;54:529-530.
38. Arbustini E, Morbini P, Pilotto A, et al. Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. Eur Heart J 2000;21:1825-1832.
39. Hershberger RE, Hanson E, Jakobs PE, et al. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am Heart J 2002;144:1081-1086.
40. Watkins DA, Hendricks N, Shaboodien G, et al. Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the Arrhythmogenic Right Ventricular Cardiomyopathy Registry of South Africa. Heart Rhythm 2009;6:S10-S17.