Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome.
Can J Cardiol
; 35(9): 1256.e1-1256.e2, 2019 09.
Article
em En
| MEDLINE
| ID: mdl-31472821
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do QT Longo
/
Carnitina
/
Testes Genéticos
/
Morte Súbita Cardíaca
/
Hiperamonemia
/
Membro 5 da Família 22 de Carreadores de Soluto
/
Doenças Musculares
/
Mutação
/
Cardiomiopatias
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Can J Cardiol
Assunto da revista:
CARDIOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Canadá