Familial dilated cardiomyopathy: Prevalence, diagnosis and treatment
- Ray E Hershberger, MD
Ray E Hershberger, MD
- Professor of Medicine (Cardiology and Human Genetics)
- Ohio State University
- Section Editors
- William J McKenna, MD
William J McKenna, MD
- Section Editor — Myopericardial Disease
- Professor of Cardiology
- University College, London
- Benjamin A Raby, MD, MPH
Benjamin A Raby, MD, MPH
- Section Editor — Genetics
- Associate Professor of Medicine
- Harvard Medical School
Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is the most common diagnosis in patients who undergo cardiac transplantation. DCM is characterized by dilatation and systolic dysfunction of one or both ventricles. (See "Definition and classification of the cardiomyopathies".)
DCM is classified as idiopathic (idiopathic dilated cardiomyopathy, or IDC) when all detectable causes have been excluded (except genetic causes). Potentially diagnosable causes of DCM include a variety of toxic, metabolic, or infectious agents (see "Causes of dilated cardiomyopathy"). Ischemic heart disease must also be excluded. Although specialists commonly apply the diagnosis of IDC to DCMs of unknown cause, clearly some etiology is present but not yet detected.
Family-based studies of first-degree relatives of patients with IDC have established that familial dilated cardiomyopathy (known as familial DCM, or FDC) can be identified in 20 to 35 percent of patients diagnosed with IDC by clinical screening of family members . Most familial DCM is transmitted in an autosomal dominant inheritance pattern, although all inheritance patterns have been identified (autosomal recessive, X-linked, and mitochondrial). During the past 20 years, familial DCM genetic studies have identified mutations in more than 30 genes.
Most patients with genetic DCM will have an initial diagnosis of idiopathic DCM. Given the frequency of familial DCM, evaluation of new idiopathic DCM cases should include a careful three to four generation family history, clinical screening of first-degree family members as described below, and in most cases, molecular genetic testing.
This topic will discuss the diagnosis and prevalence of familial DCM and guidelines for identifying and treating familial DCM. The phenotypes and genes associated with DCM are discussed separately. (See "Genetics of dilated cardiomyopathy".)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005; 45:969.
- Codd MB, Sugrue DD, Gersh BJ, Melton LJ 3rd. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989; 80:564.
- Goerss JB, Michels VV, Burnett J, et al. Frequency of familial dilated cardiomyopathy. Eur Heart J 1995; 16 Suppl O:2.
- 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.
- Grünig E, Tasman JA, Kücherer H, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998; 31:186.
- Baig MK, Goldman JH, Caforio AL, et al. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998; 31:195.
- Gavazzi A, Repetto A, Scelsi L, et al. Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics. Eur Heart J 2001; 22:73.
- McKenna CJ, Codd MB, McCann HA, Sugrue DD. Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution. Heart 1997; 77:549.
- Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999; 34:181.
- Mahon NG, Murphy RT, MacRae CA, et al. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med 2005; 143:108.
- Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 2013; 10:531.
- Mahon NG, Madden BP, Caforio AL, et al. Immunohistologic evidence of myocardial disease in apparently healthy relatives of patients with dilated cardiomyopathy. J Am Coll Cardiol 2002; 39:455.
- Crispell KA, Hanson EL, Coates K, et al. Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 2002; 39:1503.
- Kushner JD, Nauman D, Burgess D, et al. Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J Card Fail 2006; 12:422.
- Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. J Card Fail 2009; 15:83.
- Yancy CW, Jessup M, Bozkurt B, et al. 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2013; 62:e147.
- Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011; 8:1308.
- Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br Heart J 1980; 44:672.
- Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93:841.
- Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2009; 2:253.
- Bharati S, Surawicz B, Vidaillet HJ Jr, Lev M. Familial congenital sinus rhythm anomalies: clinical and pathological correlations. Pacing Clin Electrophysiol 1992; 15:1720.
- Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57:1641.
- Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med 2010; 12:655.
- Crispell KA, Wray A, Ni H, et al. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice. J Am Coll Cardiol 1999; 34:837.