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
Cardiologyjournal_title
Cardiologyauthors
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 ZNdoi
10.1159/000465516subject
Has Abstractpub_date
2017-01-01 00:00:00pages
188-192issue
3eissn
0008-6312issn
1421-9751pii
000465516journal_volume
137pub_type
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