Apical Hypertrophic Cardiomyopathy: Case Report and Literature Review

Patient: Female, 53 Final Diagnosis: Apical hypertrophic cardiomyopathy Symptoms: Chest pain • dizziness • palpitations Medication: — Clinical Procedure: — Specialty: Cardiology OBJECTIVE: Rare disease BACKGROUND: Apical hypertrophic cardiomyopathy (ApHCM) is a relatively rare form of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and typically has a nonobstructive physiology. Its variable presentation and clinical course render ApHCM a commonly delayed or missed diagnosis. CASE REPORT: A 53-year-old Caucasian woman presented with chronic progressive chest pain. She was initially started on treatment for acute coronary syndrome. Diagnosis of ApHCM was initially missed on echocardiography, but made on subsequent cardiac catheterization and cardiac MRI. She improved clinically with metoprolol, had a work-up for implantable cardioverter-defibrillator placement, and was referred for genetic testing. CONCLUSIONS: Despite earlier studies suggesting a more benign clinical course of ApHCM, recent studies report increased morbidity and mortality, which is comparable to the prognosis of other variants of hypertrophic cardiomyopathy such as hypertrophic obstructive cardiomyopathy. Thus, when formulating a differential diagnosis for chest pain, it is important to include structural heart disease including apical and other variants of hypertrophic cardiomyopathy as part of that differential, as appropriate management can prevent these devastating sequelae. Furthermore, when screening tests such as echocardiography cannot adequately establish the diagnosis of ApHCM, then cardiac MRI or invasive hemodynamic testing is necessary to establish or refute the diagnosis.