Diagnostic considerations in detecting apical hypertrophic cardiomyopathy while utilizing point-of-care ultrasound

The emergency department (ED) clinical approach to patients with unexplained syncope has ushered in an era of advances in the point-of-care ultrasound (POCUS) practice. Cardiac ultrasound (US) is a key application that is often utilized in young patients with syncope when screening for structural abnormalities such as hypertrophic cardiomyopathy (HCM). The application of the cardiac US for this screening, however, can be hindered by phenotypic variability of hereditary HCM. The apical variant of HCM constitutes a minority of all cases (<3%) and is generally associated with a benign prognosis. We describe a 28-year-old woman and former collegiate middle-distance/endurance runner who presented to the emergency department (ED) with syncope. Earlier in the day, she was one mile into a planned ten-mile run, when she reached an intersection requiring her to stop. Upon stopping abruptly, she experienced a feeling of warmth, followed by shortness of breath, blurred vision and subsequent loss of consciousness. The patient had syncopized several times before in her life—all in the setting of abruptly stopping after a warm-up exercise. She denied any other complaints and had no other relevant past medical history. Family history was notable for myocardial infarction (MI) in the patient's father while he was in his 50s, as well as sudden cardiac death of her paternal grandfather while he was also in his 50s. Upon arrival to the ED, blood pressure was 93/59 mm Hg; heart rate, 59 beats per minute; oxygen saturation, 99% on room air, and temperature 98.4 F. On examination, the patient was well appearing, alert, oriented and in no acute distress. Orthostasis was not present. Breath sounds were clear and equal bilaterally. Cardiac examination demonstrated regular rhythm without murmur, rub or gallop. Distal pulses were intact and jugular venous distension was absent.