A Rare <i>Titin</i> Gene Mutation Causing Hypertrophic Cardiomyopathy in an Omani Individual

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.

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Publication Details

Journal
Sultan Qaboos University medical journal
Published
2025-11-29
DOI
https://doi.org/10.18295/2075-0528.2935
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
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article

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

Madan Mohan Maddali, Kumayl Al-Lawati
Sultan Qaboos University medical journal
Cardiomyopathy and Myosin Studies
article

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

Madan Mohan Maddali, Kumayl Al-Lawati
article en

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.

Sultan Qaboos University medical journalVol. 25(1)
Royal Hospital (OM)
Openalex Percentile: Top 45%
Cardiomyopathy and Myosin Studies
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