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

ABSTRACT:

Purpose

Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder. This study was designed to investigate CTD cardiac phenotype and sudden death risk.

Methods

We performed a cross-sectional analysis of CTD males between 2017 and 2020. Subjects underwent evaluation with electrocardiogram (ECG), echocardiography, and ambulatory ECG with comparable analysis in creatine transporter deficient mice (Slc6a8^-/y) using ECG, echocardiography, exercise testing, and indirect calorimetry.

Results

Eighteen subjects with CTD (18 males, age 7.4 [3.8] years) were evaluated: seven subjects (39%) had QTc ≥ 470 milliseco

SUBMITTER: Levin MD 

PROVIDER: S-EPMC8487919 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature