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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A Rare Titin Gene Mutation Causing Hypertrophic Cardiomyopathy in an Omani Individual
Kumayl Al-Lawati1, Madan M Maddali2
1Department of Heart Failure and Implantable Devices, National Heart Center, The Royal Hospital, Muscat, Oman.
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.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation
Translation Produces the Building Blocks of Life
Proteins are...

