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Recessive Inheritance of a Rare Variant in the Nuclear Mitochondrial Gene for AARS2 in Late Onset Dilated Cardiomyopathy.

Rare DNA variants in the nuclear mitochondrial gene for AARS2 encoding mitochondrial alanyltRNA synthetase are recognized causes of fatal infantile cardiomyopathy and adult-onset progressive neurodegeneration.1 This study presents the first case of a teenage female who developed dilated cardiomyopathy at the age of 15 due to a homozygous p.Arg592Trp variant in AARS2, which is a recognized founder mutation in Northern Europe and the only mutation linked to the development of cardiomyopathy. Different AARS2-mutations are associated with the development of isolated leukodystrophy.