In this episode, Drs. Adriana Mares and Devesh Rai, The CardioNerds correspondents, are joined by expert faculty Dr. Eldrin Lewis to analyze the following heart failure-related question:
|A 45-year-old man presents to the cardiology clinic after experiencing progressive dyspnea while playing basketball for several months. He also reports feeling intermittent palpitations over the last month. Two weeks ago, he passed out while playing basketball and attributed the event to exertion and dehydration. He denies smoking or consuming alcohol.
His family history is important, as his father died following a significant cardiac event at the age of 50. His father’s autopsy showed a thick heart, but the patient is unaware of the exact diagnosis. He has 2 children, 12 and 15 years old, who are healthy.
The patient’s blood pressure is 124/84 mmHg, his heart rate is 70 bpm, and he has a normal respiratory rate. On auscultation, a systolic murmur is present at the left lower sternal border. A 12-lead electrocardiogram showed normal sinus rhythm with signs of left ventricular (LV) hypertrophy and associated repolarization abnormalities. Echocardiography revealed normal LV chamber volume, preserved left ventricular ejection fraction, asymmetric septal hypertrophy with wall thickness up to 16 mm, systolic anterior motion of the anterior mitral valve leaflet with 2+ eccentric posteriorly directed mitral regurgitation, and a resting left ventricular outflow tract gradient of 30 mmHg, which increased to 60 mmHg on Valsalva.
It’s possible the patient has an inherited cardiomyopathy, namely hypertrophic cardiomyopathy. In addition to medical management of his symptoms and referral to electrophysiology to evaluate the need for an implantable cardioverter defibrillator, which of the following steps is appropriate?
|A||Order blood work for genetic testing|
|B||Refer for genetic counseling|
|E||All of the above|
This question refers to Section 4.3 of the 2022 ACC/AHA/HFSA Guideline for the Management of Heart Failure. Listen to the episode to hear what the group had to say.
This podcast originally appeared on The CardioNerds.