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. 2014 Dec;37(1-2):13-18.
doi: 10.1016/j.ppedcard.2014.10.003.

GENETIC CAUSES OF DILATED CARDIOMYOPATHY

Luisa Mestroni  1 , Francesca Brun  2 , Anita Spezzacatene  2 , Gianfranco Sinagra  3 , Matthew Rg Taylor  1
Affiliations

GENETIC CAUSES OF DILATED CARDIOMYOPATHY

Luisa Mestroni et al. Prog Pediatr Cardiol. 2014 Dec.

Abstract

Dilated cardiomyopathy is a disease of the myocardium characterized by left ventricular dilatation and/or dysfunction, affecting both adult and pediatric populations. Almost half of cases are genetically determined with an autosomal pattern of inheritance. Up to 40 genes have been identified affecting proteins of a wide variety of cellular structures such as the sarcomere, the nuclear envelope, the cytoskeleton, the sarcolemma and the intercellular junction. Novel gene mutations have been recently identified thanks to advances in next-generation sequencing technologies. Genetic screening is an essential tool for early diagnosis, risk assessment, prognostic stratification and, possibly, adoption of primary preventive measures in affected patients and their asymptomatic relatives. The purpose of this article is to review the genetic basis of DCM, the known genotype-phenotype correlations, the role of current genetic sequencing techniques in the discovery of novel pathogenic gene mutations and new therapeutic perspectives.

Keywords: Dilated cardiomyopathy; gene; heart failure; pediatrics; prognosis; screening.

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Conflict of interest statement

Conflict of Interest Disclosures:

No conflict of interest to disclose.

Figures

Figure 1
Figure 1. Echocardiographic findings in pediatric DCM
(A) Parasternal Long axis view in a 13 year-old patient with DCM and severe biventricular dysfunction showing enlargement of the cardiac chambers. (B) Four chamber echocardiogram shows biventricular dilation, biatrial enlargement and a marked trabecular meshwork in the lateral wall. (C) Echocardiography showing a large mobile thrombus (arrow).
Figure 2
Figure 2. Effect Temsirolimus, an inhibitor of the mTORC1 pathway, in LmnaH222P/H222P mice vs. control
(from Choi et al. (79) with permission). Upper panels: representative hearts (scale bar 1 cm) and M-mode echocardiography showing improvement of dilatation and systolic dysfunction in Tg mice treated with Temsirolimus. Lower panels: left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), and fractional shortening (FS) showing significant improvement after Temsirolimus.
See this image and copyright information in PMC

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