Case Study 2: Richard
Family History Suggestive of HCM

Richard is a 48-year-old man with well-controlled hypertension. For the past few months, he has noticed a left-sided, non-radiating chest discomfort with exertion that is relieved by rest. The chest discomfort is associated with exertional dyspnea and sometimes dizziness, but no diaphoresis or nausea. Symptoms can occur with activities such as carrying objects, walking up inclines or walking quickly. He may occasionally feel a “heart flutter” without associated symptoms. He denies presyncope, syncope, edema, orthopnea and paroxysmal nocturnal dyspnea. His home blood pressures are typically 120s/80s mmHg. Because a murmur was auscultated, an electrocardiogram (ECG), a resting transthoracic echocardiogram and a coronary CTA were ordered.

 

Past Medical History: Hypertension diagnosed four years ago.

Medications: Amlodipine 5 mg daily.

Allergies: No known drug allergies.

Social History: He works as an automobile mechanic. He denies a history of smoking, alcohol abuse and illicit substance use.

 

Family History: He has a 15-year-old son who plays high school basketball and is well. He has two full biological siblings. His sister Leah is 52 years old and has been seen for an “irregular heart beat,” but he does not know details. She has had tests for her heart, but he thinks they were normal. She has two children who are well. A younger brother Todd is 45 years old and has no known heart problems or symptoms. This brother has three children who, to his knowledge, are healthy. Richard’s mother died of a “heart attack” at 52 years of age. She did not have risk factors for coronary artery disease, and he does not think an autopsy was done. His maternal grandparents lived into their 80s. He has one maternal aunt who is in her 70s with congestive heart failure (CHF). His maternal grandmother had a brother who died in his 30s, but he is not sure of the details. His father is 77 years old. He has a “heart stent” and is under the care of a cardiologist. His paternal grandfather was in a car accident in his 70s. His paternal grandmother had a stroke in her 70s and died a few years later. There is no significant paternal family history of sudden cardiac death or premature heart disease.

 

Exam: BMI 32, BP 115/78 mmHg, P 95 bpm, R 18.

General: Appears normal and no apparent distress.

Neck: JVP ~6-8 cm above left atrium.

Heart: Regular heart rate and rhythm, II/VI systolic crescendo decrescendo murmur that increases with Valsalva.

Resp: Lungs clear to auscultation without adventitious breath sounds bilaterally.

Extremities: No lower extremity edema, palpable pulses bilaterally.

 

Labs: eGFR > 90 mL/min, creatinine 0.8, K 4.0, high sensitivity troponin T 15, NT-proBNP 200.

ECG: Sinus rhythm at 80 bpm with left ventricular hypertrophy (LVH), abnormal Q waves anterior leads and ST elevation anterior leads.

 

ECHO: Asymmetric septal hypertrophy up to 1.9 cm and posterior wall 0.9 cm, left ventricular ejection fraction (LVEF) 65%, enlarged LA, LVOT gradient 20 mmHg at rest and 49 mmHg with Valsalva strain, systolic anterior motion (SAM) of the mitral valve with mild regurgitation, trace tricuspid regurgitation and inferior vena cava (IVC) diameter <2.1 cm that collapses> 50%.

 

Coronary CTA: Calcium score 0. No coronary atherosclerosis.

You diagnose obstructive HCM.