A Rare Titin Gene Mutation Causing Hypertrophic Cardiomyopathy in an Omani Individual
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Kumayl Al-Lawati, Madan M. Maddali
Institution: Royal Hospital
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4416945461
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