Severe cardiac conduction disease associated with titin gene mutation

Abstract

AbstractHeart block is rare in pediatrics with many possible causes. An association between complete heart block (CHB) and pathogenic titin (TTN) mutations have not been previously described. We report a 9‐year‐old female with history of leukodystrophy and family history of atrial fibrillation who presented with syncope and conduction abnormalities, including CHB. She underwent pacemaker implantation and genetic testing demonstrated a pathogenic TTN mutation likely responsible for her cardiac findings. Our case suggests an association between TTN mutations and conduction disease and emphasizes broadening gene testing in assessing these patients, especially when a family history is present.