Genetic Evaluation of Familial Cardiomyopathy

Abstract

Hereditary forms of hypertrophic, dilated, restrictive, and right ventricular cardiomyopathies are frequently seen. Patterns of inheritance include autosomal dominant, autosomal recessive, X-linked, and matrilinear. Recognition of the mode of inheritance facilitates proper clinical screening of family members in subsequent generations. Report of successful sequence analysis of the human genome 7 years ago has resulted in widespread translation of genomic information into clinical applications. As technologic advances in high throughput sequence determination continue to evolve, an era of personalized medicine based on genomic data is highly anticipated. Today, clinical genetic testing is available for most monogenic forms of cardiomyopathy and the demand among patients and families is increasing. However, physicians and patients should consider the benefits and limitations of such testing. This review will focus on inherited forms of cardiomyopathy, detailing the currently available genetic tests, as well as benefits, limitations, and possible outcomes of such testing.

The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance

“…HCM is an autosomal dominant disease caused by mutations in genes encoding sarcomere proteins [1]. Autosomal recessive, X-linked, and mitochondrial (matrilinear) patterns of inheritance also occur [1,3]. The penetrance of left ventricular hypertrophy (LVH) is highly age-dependent and incomplete [4].…”

Life threatening causes of syncope: Channelopathies and cardiomyopathies

“…These include HCM, ARVC, and cardiomyopathies associated with muscular or neuromuscular disorders such as Duchenne's, Becker's and myotonic dystrophies or Friedreich ataxia, Noonan syndrome and lentiginosis (Grunig et al, 1998;Judge and Johnson, 2008). HCM is the most common inherited cardiac disease with a prevalence of 1:500 (Maron et al, 1995) and an autosomal dominant inheritance pattern.…”

Use of Genetics in the Clinical Evaluation of Cardiomyopathy

“…24 An abnormality in any of the genes encoding the components of the sarcomere can cause either hypertrophic cardiomyopathy or dilated cardiomyopathy. 14,24 There are several reasons why one might consider genetic testing for a patient with hypertrophic cardiomyopathy. One is confirmation of a clinical diagnosis, although thorough phenotypic assessment is usually sufficient to accomplish this goal without genetic analysis.…”