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2014 ; 37
(1-2
): 13-18
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GENETIC CAUSES OF DILATED CARDIOMYOPATHY
#MMPMID25584016
Mestroni L
; Brun F
; Spezzacatene A
; Sinagra G
; Taylor MR
Prog Pediatr Cardiol
2014[Dec]; 37
(1-2
): 13-18
PMID25584016
show ga
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.