Abstract
We report a case of sudden unexplained death in a young asymptomatic woman in whom postmortem genetic testing after a negative autopsy identified a homozygous pathogenic mutation in SLC22A5 which leads clinically to primary carnitine deficiency (PCD). Her brother was subsequently diagnosed clinically with short QT syndrome, received an implantable defibrillator, and was then found to carry the same pathogenic homozygous mutation and critically low levels of carnitine. His QT interval improved with the use of carnitine supplementation, highlighting the close relationship between electrophysiology and biochemistry, and the importance of postmortem genetic testing in the clinical management of surviving relatives.
Copyright © 2019 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Autopsy
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Cardiomyopathies / complications
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Cardiomyopathies / genetics*
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Cardiomyopathies / metabolism
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Carnitine / deficiency*
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Carnitine / genetics
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Carnitine / metabolism
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DNA / genetics
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Death, Sudden, Cardiac / etiology*
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Fatal Outcome
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Female
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Genetic Predisposition to Disease
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Genetic Testing / methods*
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Humans
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Hyperammonemia / complications
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Hyperammonemia / genetics*
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Hyperammonemia / metabolism
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Long QT Syndrome / etiology
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Long QT Syndrome / genetics*
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Muscular Diseases / complications
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism
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Mutation*
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Solute Carrier Family 22 Member 5 / genetics*
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Solute Carrier Family 22 Member 5 / metabolism
Substances
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SLC22A5 protein, human
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Solute Carrier Family 22 Member 5
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DNA
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Carnitine
Supplementary concepts
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Systemic carnitine deficiency