Reassessment of Gene-Elusive Familial Dilated Cardiomyopathy Leading to the Discovery of a Homozygous AARS2 Variant—The Importance of Regular Reassessment of Genetic Findings

Background: <i>AARS2</i> encodes the mitochondrial protein alanyl-tRNA synthetase 2 (MT-AlaRS), an important enzyme in oxidative phosphorylation. Variants in <i>AARS2</i> have previously been associated with infantile cardiomyopathy. Case summary: A 4-year-old girl died of in...

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Bibliographic Details

Published in:	Cardiogenetics
Main Authors:	Priya Bhardwaj, Christoffer Rasmus Vissing, Niels Kjær Stampe, Kasper Rossing, Alex Hørby Christensen, Thomas Hartvig Lindkær Jensen, Bo Gregers Winkel
Format:	Article
Language:	English
Published:	MDPI AG 2021-07-01
Subjects:	dilated cardiomyopathy genetic testing heart failure heart transplantation mitochondrial cardiomyopathy
Online Access:	https://www.mdpi.com/2035-8148/11/3/13