Associated Papers
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG et al.
Bmc Cardiovascular Disorders, 2024
Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.
Hanington OP et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2023
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.
Hancox JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
38125748 (PubMed )
Supplement: Table1.XLSX › TableS1
Carnitine deficiency induces a short QT syndrome.
Roussel J et al.
Heart Rhythm, 2016
Congenital short QT syndrome: A review focused on electrocardiographic features.
Pérez-Riera AR et al.
Journal of Electrocardiology, 0
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