Hereditary dilated cardiomyopathy

Abstract

Summary: Dilated cardiomyopathy (DCM) is a common and important cause of morbidity and mortality. Many factors can contribute to the development of this disorder, although most commonly the etiology is unexplained. However, recent studies in individuals with idiopathic DCM now reveal a heritable cause in 20-30% of individuals. Diverse modes of inheritance have been demonstrated, encompassing an autosomal dominant type (by far the most common), together with recessive and X-linked forms, and maternal inheritance through mitochondrial DNA. The hereditary forms of DCM (HDCM) predominantly affect the left ventricle, although inherited abnormalities affecting primarily the right ventricle also are described. HDCM may occur as a primary cardiomyopathy, or secondary to inherited systemic metabolic or neuromuscular disorders. The causative genes for primary HDCM of the autosomal dominant and recessive types have not yet been discovered, but the combination of family pedigree analysis and phenotyping by echocardiography, together with new genetic techniques, should now allow their identification. Knowledge of the gene or genes responsible for HDCM would improve diagnostic accuracy, facilitate genetic counseling, advance understanding of pathogenesis, and provide the starting point for new methods of treatment. Because of the frequently heritable nature of DCM, it is of great importance that a diligent search for all potentially affected family members be undertaken.

2009 Focused Update Incorporated Into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults

“…Healthcare professionals should perform echocardiographic evaluation in selected patients without apparent structural heart disease who are at very high risk of a cardiomyopathy (e.g., those with a strong family history of cardiomyopathy or those receiving cardiotoxic interventions). 114,115 Routine periodic assessment of LV function in other patients is not recommended. Table 3 Patients without HF symptoms but who have had an MI or who have evidence of LV remodeling are at considerable risk of developing HF.…”

ACC/AHA 2005 Guideline Update for the Diagnosis and Management of Chronic Heart Failure in the Adult

“…Certain patients are appropriate targets for more aggressive screening on the basis of characteristics that denote an increase in the risk for structural heart disease. Healthcare professionals should perform echocardiographic evaluation in selected patients without apparent structural heart disease who are at very high risk of a cardiomyopathy (e.g., those with a strong family history of cardiomyopathy or those receiving cardiotoxic interventions) (94,95). Routine periodic assessment of LV function in other patients is not recommended.…”

Guidelines for the study of familial dilated cardiomyopathies

“…Familial dilated cardiomyopathy is a heterogeneous disorder [13,14] as suggested by different patterns of inheritance, with autosomal trait prevailing, and variable clinical features. Accordingly, based on clinical and molecular genetic data, different forms can be distinguished: (1) the autosomal dominant pure familial dilated cardiomyopathy, for which three known chromosomal loci have already been mapped on chromosome 9q13-22 [15] , 1q32 [16] , and 10q21-23 [17] , respectively;…”