A Rare Titin Gene Mutation Causing Hypertrophic Cardiomyopathy in an Omani Individual

Authors

Kumayl Al-Lawati, Department of Heart Failure and Implantable Devices, National Heart Center, The Royal Hospital, Muscat, Oman
Madan M. Maddali, Department of Cardiac Anesthesia, National Heart Center, The Royal Hospital, Muscat, OmanFollow

Abstract

Hypertrophic cardiomyopathy is a genetic disorder in which the interventricular septum is typically more severely hypertrophied compared to other segments of the myocardium. We report a 18-year-old woman who presented in 2024 to a tertiary cardiac care centre in Muscat, Oman, with a history of anterolateral accessory pathway ablation who developed burning chest pain after stress. Transthoracic echocardiography revealed generalised left ventricular hypertrophy with maximal thickness in the infero-lateral wall with mid-cavity obstruction. The symptoms necessitated bisoprolol and disopyramide treatment. As there was an increased risk of sudden cardiac death due to left ventricular wall thickness of more than 30 mm and presence of excessive scarring on magnetic resonance imaging, an implantable cardioverter-defibrillator was placed. Failure of medical therapy led to a myectomy referral. Genetic testing identified a rare Titin gene mutation linked to her cardiomyopathy.

Publication Date

11-29-2025

First Page

1076

Last Page

1080

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Recommended Citation

Al-Lawati, Kumayl and Maddali, Madan M. (2025) "A Rare Titin Gene Mutation Causing Hypertrophic Cardiomyopathy in an Omani Individual," Sultan Qaboos University Medical Journal: Vol. 25: 1076-1080.
DOI: https://doi.org/10.18295/2075-0528.2935