Genetic Determinants of Cardiac Hypertrophy

Overview

Journal Curr Opin Cardiol

Specialty Cardiology & Vascular Diseases

Date 2008 Apr 3

PMID 18382207

Citations 42

Authors

Ali J Marian

Affiliations

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Abstract

Purpose Of Review: Cardiac hypertrophy is a common phenotypic response of the heart to stimulants. It is associated with increased morbidity and mortality in various cardiovascular disorders. Genetic factors are important determinants of phenotypic expression of cardiac hypertrophy, whether in single-gene disorders or in complex traits. We focus on the molecular genetics of cardiac hypertrophy in various conditions with an emphasis on hypertrophic cardiomyopathy, a genetic paradigm of cardiac hypertrophic response.

Recent Findings: The molecular genetic basis of cardiac hypertrophy in single-gene disorders has been partially elucidated. Likewise, the impact of genetics on the expression of cardiac hypertrophy in the general population has been demonstrated. Identification of mutations in the Z disk proteins has expanded the spectrum of causal mutations beyond the thin and thick filaments of the sarcomeres. In addition, modifier loci have been mapped and shown to impart considerable effects on the expression of cardiac hypertrophy in hypertrophic cardiomyopathy. Elucidation of the molecular genetics of sarcomeric hypertrophic cardiomyopathy and many of the phenocopies has highlighted the limitations of clinical diagnosis as a determinant of management and prognostic advice. The findings have raised the importance of diagnosis and treatment algorithms, which are based on both genotype and phenotype information.

Summary: Cardiac hypertrophy, regardless of the cause, is the phenotypic consequence of complex interactions between genetic and nongenetic factors.

Citing Articles

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Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.

Vahatalo J, Holmstrom L, Pylkas K, Skarp S, Porvari K, Pakanen L Front Cardiovasc Med. 2022; 8:755062.

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PMID: 33145465 PMC: 7591931. DOI: 10.1016/j.jacbts.2020.05.013.

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