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Date of Award

Spring 2025

Degree Name

Master of Medical Science (Physician Assistant)

Department

Physician Assistant; College of Health Sciences

First Advisor

Timothy Besse, MSPAS, MAT, PA-C

Abstract

Hypertrophic cardiomyopathy (HCM) is a cardiac condition characterized by excessive thickness of the left ventricular wall and septum. A diagnosis of HCM is life-changing and the consequences of a missed diagnosis are life-threatening. HCM is the most common cause of sudden cardiac death in those under the age of 30. The prevalence of HCM is 1 in 500 in the general population based on echocardiographic studies. However, it is estimated that only 1 in 1,395 people in the United States have a clinical diagnosis of HCM based on diagnosis codes. Undiagnosed HCM is a risk to patient safety and early detection is key to management, thus healthcare providers must be well-versed in the signs, symptoms, and process of diagnosis. Additionally, about half of cases of HCM are caused by known genetic mutations and inherited in an autosomal dominant pattern, so providers must be able to counsel patients and families as to their risks. Finally, it is important to remain educated on best practice guidelines for HCM management, particularly with the inclusion of the novel drug mavacamten.

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Hypertrophic Cardiomyopathy: Current Diagnosis and Management

Hypertrophic cardiomyopathy (HCM) is a cardiac condition characterized by excessive thickness of the left ventricular wall and septum. A diagnosis of HCM is life-changing and the consequences of a missed diagnosis are life-threatening. HCM is the most common cause of sudden cardiac death in those under the age of 30. The prevalence of HCM is 1 in 500 in the general population based on echocardiographic studies. However, it is estimated that only 1 in 1,395 people in the United States have a clinical diagnosis of HCM based on diagnosis codes. Undiagnosed HCM is a risk to patient safety and early detection is key to management, thus healthcare providers must be well-versed in the signs, symptoms, and process of diagnosis. Additionally, about half of cases of HCM are caused by known genetic mutations and inherited in an autosomal dominant pattern, so providers must be able to counsel patients and families as to their risks. Finally, it is important to remain educated on best practice guidelines for HCM management, particularly with the inclusion of the novel drug mavacamten.