Severe cardiac conduction disease associated with titin gene mutation

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 pathogenicTTN mutation likely responsible for her cardiac findings. Our case suggests an association betweenTTN mutations and conduction disease and emphasizes broadening gene testing in assessing these patients, especially when a family history is present.

Source: Pacing and Clinical Electrophysiology : PACE - May 25, 2023 Category: Cardiology Authors: Jonathan Uniat, Allison Hill, Mark Shwayder, Yaniv Bar ‐Cohen Tags: CASE REPORT Source Type: research