A CASE OF HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY WITH NO PREVIOUS CARDIAC HISTORY

Purpose: This case study will depict the presentation, diagnosis, management and prognosis of hypertrophic obstructive cardiomyopathy (HOCM) in a 64-year-old Caucasian female with no previous cardiac history who presented with dyspnea and an incidental systolic murmur. HOCM is a genetic disease caused by mutations of sarcomere genes that encode components of the contractile apparatus of the heart. We will illustrate an atypical presentation of HOCM in a female with no previous cardiac history and discuss appropriate diagnostic and treatment options. Methods: The patient's medical records, echocardiography reports, and cardiac cauterization reports, were reviewed. Results: A 64-year-old female with a past medical history of hyperlipidemia, tobacco dependence and COPD presented to her pulmonologist with worsening dyspnea on exertion. Upon physical examination, a global III/VI systolic ejection murmur that increased upon standing was heard. Upon evaluation by cardiology and review of echocardiography results, it was found that the patient has severe HOCM with an outflow gradient of 144 mmHg with peak velocities across the left ventricular outflow tract (LVOT) at 8.1 cm/s. There was also severe global left ventricular hypertrophy and asymmetric septal hypertrophy. Left ventricular ejection fraction was preserved at 55%. Systolic anterior motion causing severe mitral regurgitation in an eccentric anterior direction with thickened mitral leaflets was also found. Cardiac catherization revealed mild nonbstructive coronary artery disease, moderate or severe pulmonary hypertension and severe left ventricular to aortic pressure gradient. Holter monitoring revealed sinus rhythm, no NSVT and no significant pauses. The patient was counseled on treatment options which include either myomectomy or alcohol septal ablation. Conclusions: A leading cause of sudden cardiac death in young athletes, HOCM can also present as a sporadic form in older individuals. When performing a cardiac examination, it is important to consider rare cardiac pathologies such as HOCM. Adequate work up of HOCM includes evaluation of the left ventricular and septal size and mitral valve function. It is also important to screen the patient's first degree relatives for HOCM because of the autosomal dominant nature of HOCM gene mutations. Once appropriately diagnosed, treatment options are alcohol ablation or myomectomy of the hypertrophied septum. Prompt treatment is essential to minimize the risk of sudden cardiac death.