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Case Report

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

1
The Capital Region’s Unit of Inherited Cardiac Disorders, Department of Cardiology, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark
2
Department of Cardiology, Copenhagen University Hospital—Herlev-Gentofte, Borgmester Ib Juuls Vej 1, 2730 Herlev, Denmark
3
Department of Pathology, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark
*
Author to whom correspondence should be addressed.
Academic Editors: Tiina Heliö, Juha W. Koskenvuo and Katriina Aalto-Setälä
Cardiogenetics 2021, 11(3), 122-128; https://doi.org/10.3390/cardiogenetics11030013
Received: 18 April 2021 / Revised: 13 July 2021 / Accepted: 15 July 2021 / Published: 23 July 2021
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
Background: AARS2 encodes the mitochondrial protein alanyl-tRNA synthetase 2 (MT-AlaRS), an important enzyme in oxidative phosphorylation. Variants in AARS2 have previously been associated with infantile cardiomyopathy. Case summary: A 4-year-old girl died of infantile-onset dilated cardiomyopathy (DCM) in 1996. Fifteen years later, her 21-year-old brother was diagnosed with DCM and ultimately underwent heart transplantation. Initial sequencing of 15 genes discovered no pathogenic variants in the brother at the time of his diagnosis. However, 9 years later re-screening in an updated screening panel of 129 genes identified a homozygous AARS2 (c.1774C > T) variant. Sanger sequencing of the deceased girl confirmed her to be homozygous for the AARS2 variant, while both parents and a third sibling were all found to be unaffected heterozygous carriers of the AARS2 variant. Discussion: This report underlines the importance of repeated and extended genetic screening of elusive families with suspected hereditary cardiomyopathies, as our knowledge of disease-causing mutations continuously grows. Although identification of the genetic etiology in the reported family would not have changed the clinical management, the genetic finding allows genetic counselling and holds substantial value in identifying at-risk relatives. View Full-Text
Keywords: dilated cardiomyopathy; genetic testing; heart failure; heart transplantation; mitochondrial cardiomyopathy dilated cardiomyopathy; genetic testing; heart failure; heart transplantation; mitochondrial cardiomyopathy
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MDPI and ACS Style

Bhardwaj, P.; Vissing, C.R.; Stampe, N.K.; Rossing, K.; Christensen, A.H.; Jensen, T.H.L.; Winkel, B.G. Reassessment of Gene-Elusive Familial Dilated Cardiomyopathy Leading to the Discovery of a Homozygous AARS2 Variant—The Importance of Regular Reassessment of Genetic Findings. Cardiogenetics 2021, 11, 122-128. https://doi.org/10.3390/cardiogenetics11030013

AMA Style

Bhardwaj P, Vissing CR, Stampe NK, Rossing K, Christensen AH, Jensen THL, Winkel BG. Reassessment of Gene-Elusive Familial Dilated Cardiomyopathy Leading to the Discovery of a Homozygous AARS2 Variant—The Importance of Regular Reassessment of Genetic Findings. Cardiogenetics. 2021; 11(3):122-128. https://doi.org/10.3390/cardiogenetics11030013

Chicago/Turabian Style

Bhardwaj, Priya, Christoffer R. Vissing, Niels K. Stampe, Kasper Rossing, Alex H. Christensen, Thomas H.L. Jensen, and Bo G. Winkel 2021. "Reassessment of Gene-Elusive Familial Dilated Cardiomyopathy Leading to the Discovery of a Homozygous AARS2 Variant—The Importance of Regular Reassessment of Genetic Findings" Cardiogenetics 11, no. 3: 122-128. https://doi.org/10.3390/cardiogenetics11030013

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