X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.

Mark D LevinSimona BianconiAndrew SmithNiamh X CawleyAn Dang DoDylan HammondJulia F GrafsteinAudrey ThurmJudith MillerJohn PerreaultAudrey NoguchiDanielle SpringerBeth A KozelChristopher F SpurneyChristopher A WassifZu-Xi YuAndreas SchulzeForbes D PorterFady Hannah-Shmouni

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Prolonged QTc and abnormal echocardiographic parameters consistent with developing cardiomyopathy are seen in some male subjects with CTD. Slc6a8-/y mice recapitulated these cardiac abnormalities. Male CTD subjects may be at increased risk for cardiac dysfunction and sudden death.

Keyphrases

left ventricular
heart failure
mitral valve
left atrial
type diabetes
ejection fraction
smoking cessation
wild type