Turki Alasmari

Prince Sultan Cardiac Center, Saudi Arabia

Title: Hypertrophic Cardiomyopathy (HCM ) with Bicuspid Aortic Valve and Severe Aortic Stenosis in a Young Patient with Positive Transthyretin (TTR) Gene Mutation

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Biography

Turki Awadh Yosef Alasmari graduated from Bisha University at the age of 26 and is currently a Postgraduate Year 3 resident in the Internal Medicine Board program at Prince Sultan Cardiac Center in Riyadh, Saudi Arabia.

Abstract

A 17-year-old male with a history of atopic dermatitis presented with no significant symptoms but was found to have severe left ventricular hypertrophy (LVH) and a bicuspid aortic valve (BAV) with severe aortic stenosis. Genetic testing revealed a positive transthyretin (TTR) gene mutation, which raised suspicion for hereditary cardiac involvement. This case highlights the diagnostic challenges in young patients with complex cardiovascular conditions and emphasizes the importance of genetic testing in patients with unexplained hypertrophy.

Hypertrophic cardiomyopathy (HCM) is a common genetic disorder characterized by abnormal thickening of the myocardium, most often affecting the left ventricle. The condition may present with symptoms such as chest pain, dyspnea, and arrhythmias, or it may remain asymptomatic, as seen in many young patients. HCM is frequently caused by mutations in genes encoding sarcomeric proteins, but its clinical expression can vary widely, ranging from mild asymptomatic forms to severe disease with heart failure and sudden cardiac death. Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, with a prevalence of 1:200 to 1:500, that re-quires a nuanced approach for diagnosis, combining clinical evaluation, cardiac imaging, and often genetic testing.' Most genetic causes of HCM are due to changes in sarcomeric genes, particularly cardiac myosin binding protein C (MYBPC3) and myosin heavy chain (MYH7). HCM is a diagnosis of exclusion and must be differentiated from other cardiomyopathies with left ventricular (LV) hypertrophy such as hypertensive heart disease, valvular disease, trans-thyretin (TTR) cardiac amyloidosis (ATTR-CA), and storage diseases.