Ontology highlight
ABSTRACT:
SUBMITTER: Sarquella-Brugada G
PROVIDER: S-EPMC7938306 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Frontiers in pediatrics 20210222
<b>Aim:</b> To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics. <b>Methods:</b> Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is caused by rare variants in the <i>TRDN</i> gene. Malignant ventricular arrhythmias and sudden cardiac death can be a primary manifestation of disease. Although pharmacological measures are effective, some patients require an implantable def ...[more]