Adult Onset Hypertrophic Cardiomyopathy (HCM) Not Detected by Echocardiogram: A Case Presentation

Abstract

Hypertrophic cardiomyopathy (HCM) is a genetic myocardial disease of the sarcomere protein. The age of diagnosis of HCM tends to be between the second to third decades of life. However, the recent occurrence of HCM in the fifth and sixth decades of life has been seen in an increasing number of cases. In all cases, a transthoracic echocardiogram (TTE) is considered the gold standard of imaging. Here, we present a case of a 54-year-old Caucasian male who presented to the emergency department (ED) with dyspnea while on vacation. An electrocardiogram (ECG) taken at the time did not suggest any abnormalities. After returning home, a stress test conducted indicated left anterior descending (LAD) artery stenosis. Following treatment, symptoms improved temporarily but eventually came back. Repeat ECGs and TTEs done over the next two years indicated grade II diastolic dysfunction and mild left ventricular hypertrophy, which led to changes in the medication regime. Nevertheless, his condition progressively deteriorated over time. Repeat appearances to the ED led to the utilization of magnetic resonance imaging (MRI) to assess cardiac morphology function and velocity flow. The results were consistent with HCM. This case presents a unique obstacle for the diagnosis of adult-onset HCM. The change made to his medication regimen seemingly aggravated the patients’ condition. This case highlights the need for further imaging, beyond the gold standard, in adult males with repeated complaints of dyspnea on exertion (DOE).