Abstract
Genetic testing has become an increasingly important part of medical practice for heritable form of cardiomyopathies. Hypertrophic cardiomyopathy and about 50% of idiopathic dilatative cardiomyopathy are familial diseases, with an autosomal dominant pattern of inheritance.Some genotype-phenotype correlations can provide important information to target DNA analyses in specific genes. Genetic testing may clarify diagnosis and help the optimal treatment strategies for more malignant phenotypes. In addition, genetic screening of first-degree relatives can help early identification and diagnosis of individuals at greatest risk for developing cardiomyopathy, allowing to focus clinical resources on high-risk family members.This paper provides a concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable cardiomyopathies.
Highlights
The success of the Human Genome Project and the recent discoveries in the area of genetics promise to significantly change the clinical practice of cardiology, providing new tools for more accurate diagnosis and prognosis of disease as well as for a better prediction about health risks for the family [1,2].Rapid advances in the technology and reduction in the cost of DNA sequencing have led to increasingly rapid translation of genomic information into clinical applications [3]
The purpose of this paper is to provide a concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable form of hypertrophic and dilated cardiomyopathies
Pasotti et al have recently shown that dilated cardiomyopathies caused by lamin A/C (LMNA) gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation [37]
Summary
The success of the Human Genome Project and the recent discoveries in the area of genetics promise to significantly change the clinical practice of cardiology, providing new tools for more accurate diagnosis and prognosis of disease as well as for a better prediction about health risks for the family [1,2]. Pasotti et al have recently shown that dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation [37]. All these studies indicate that DCM patients with LMNA mutations show remarkable homogenous clinical phenotypes with sinoatrial and atrioventricular node dysfunction, heart block commonly requiring pacemakers, atrial fibrillation, other supraventricular arrhythmias, sudden cardiac death, and a malignant course with heart failure necessitating heart transplantation. If a pathogenic mutation is detected in the proband, the team provide genetic counselling for family members with subsequent DNA testing when family members decide to undergo genetic screening
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