The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy - PubMed (original) (raw)
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
V V Michels et al. N Engl J Med. 1992.
Free article
Abstract
Background: Dilated cardiomyopathy is characterized by an increase in ventricular size and impairment of ventricular function. Most cases are believed to be sporadic, and familial dilated cardiomyopathy is usually considered to be a rare and distinct disorder. We studied the proportion of cases of idiopathic dilated cardiomyopathy that were familial in a large sequential series of patients whose first-degree relatives were investigated regardless of whether these relatives had cardiac symptoms.
Methods: We studied relatives of 59 index patients with idiopathic dilated cardiomyopathy of obtaining a family history and performing a physical examination, electrocardiography, and two-dimensional, M-mode, and Doppler echocardiography. A total of 315 relatives were examined.
Results: Eighteen relatives from 12 families were shown to have dilated cardiomyopathy. Thus, 12 of the 59 index patients (20.3 percent) had familial disease. There was no difference in age, sex, severity of disease, exposure to selected environmental factors, or electrocardiographic or echocardiographic features between the index patients with familial disease and those with nonfamilial disease. A noteworthy finding was that 22 of 240 healthy relatives (9.2 percent) with normal ejection fractions had increased left ventricular diameters during systole or diastole (or both), as compared with 2 of 112 healthy control subjects (1.8 percent) who were studied separately.
Conclusions: Dilated cardiomyopathy was found to be familial in at least one in five of the patients in this study, a considerably higher percentage than in previous reports. This finding has important implications for family screening and provides direction for further investigation into the causes and natural history of dilated cardiomyopathy.
Similar articles
- Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy.
Fatkin D, Yeoh T, Hayward CS, Benson V, Sheu A, Richmond Z, Feneley MP, Keogh AM, Macdonald PS. Fatkin D, et al. Circ Cardiovasc Genet. 2011 Aug 1;4(4):342-8. doi: 10.1161/CIRCGENETICS.110.958918. Epub 2011 Jun 2. Circ Cardiovasc Genet. 2011. PMID: 21636824 - Familial dilated cardiomyopathy.
Schmidt MA, Michels VV, Edwards WD, Miller FA. Schmidt MA, et al. Am J Med Genet. 1988 Sep;31(1):135-43. doi: 10.1002/ajmg.1320310116. Am J Med Genet. 1988. PMID: 3223495 - Inflammatory dilated cardiomyopathy (DCMI).
Maisch B, Richter A, Sandmöller A, Portig I, Pankuweit S; BMBF-Heart Failure Network. Maisch B, et al. Herz. 2005 Sep;30(6):535-44. doi: 10.1007/s00059-005-2730-5. Herz. 2005. PMID: 16170686 Review. - Guidelines for the diagnosis and management of familial dilated cardiomyopathy.
Fatkin D; members of the CSANZ Cardiac Genetic Diseases Council Writing Group. Fatkin D, et al. Heart Lung Circ. 2011 Nov;20(11):691-3. doi: 10.1016/j.hlc.2011.07.008. Epub 2011 Aug 31. Heart Lung Circ. 2011. PMID: 21885340 Review.
Cited by
- De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.
Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM. Long PA, et al. Hum Genet. 2016 Aug;135(8):909-917. doi: 10.1007/s00439-016-1685-3. Epub 2016 May 27. Hum Genet. 2016. PMID: 27234373 Free PMC article. - TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population.
Li X, Wang H, Luo R, Gu H, Zhang C, Zhang Y, Hui R, Wu X, Hua W. Li X, et al. Biomed Res Int. 2013;2013:201372. doi: 10.1155/2013/201372. Epub 2013 Mar 17. Biomed Res Int. 2013. PMID: 23586019 Free PMC article. - Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA. Tsubata S, et al. J Clin Invest. 2000 Sep;106(5):655-62. doi: 10.1172/JCI9224. J Clin Invest. 2000. PMID: 10974018 Free PMC article. - Features and outcomes in utero and after birth of fetuses with myocardial disease.
Fesslova V, Mongiovì M, Pipitone S, Brankovic J, Villa L. Fesslova V, et al. Int J Pediatr. 2010;2010:628451. doi: 10.1155/2010/628451. Epub 2010 Oct 3. Int J Pediatr. 2010. PMID: 20976307 Free PMC article. - Sporadic dilated cardiomyopathy is often familial.
Marian AJ. Marian AJ. Cardiovasc Res. 2022 Jul 27;118(10):e69-e71. doi: 10.1093/cvr/cvac075. Cardiovasc Res. 2022. PMID: 35726845 Free PMC article. No abstract available.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources