The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.

Abstract:

OBJECTIVE:Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS:We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families. RESULTS:A previously reported mutation (p.Phe154Leu) in ELAC2 gene was detected in 16 families. The index cases presented between 2 and 7 months of age with HCM in 13 infants and dilated CMP (DCM) in 3. Pericardial effusion was observed in 7 infants (44%). All infants died with a median age of death of 4 months. Almost 1/3 of them died during the initial presentation. CONCLUSION:Our study suggests screening the ELAC2 gene in severe infantile-onset HCM or DCM of unknown etiology, especially in the presence of pericardial effusion. Our work demonstrates a universally poor outcome of the (p.Phe154Leu) variant in ELAC2 gene; a correlation that helps in counseling parents and in planning appropriate medical intervention.

journal_name

Cardiology

journal_title

Cardiology

authors

Shinwari ZMA,Almesned A,Alakhfash A,Al-Rashdan AM,Faqeih E,Al-Humaidi Z,Alomrani A,Alghamdi M,Colak D,Alwadai A,Rababh M,Al-Fayyadh M,Al-Hassnan ZN

doi

10.1159/000465516

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

188-192

issue

3

eissn

0008-6312

issn

1421-9751

pii

000465516

journal_volume

137

pub_type

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