Case Study 3: Leah
Type 2 DM and Worsening Nephropathy

Because Richard went on to have genetic testing and was found to have a pathogenic variant in MYBPC3, his sister Leah has come to you for evaluation. Leah is a 52-year-old female with a history of paroxysmal AFib, obstructive sleep apnea (OSA) on continuous positive airway pressure (CPAP) therapy, hypertension, obesity and hyperlipidemia. An echocardiogram five years ago when she was diagnosed with AFib showed normal LVEF, concentric LVH and left atrial (LA) enlargement. She was told the LVH was from high blood pressure and being overweight. She also had a pharmacological nuclear MPS at the time, which showed no evidence of ischemia secondary to epicardial coronary artery disease.

 

Leah now reports worsening dyspnea after walking about a block but denies chest pain. Although she has noticed increased lower extremity edema at the end of the day for several years, it no longer resolves by the next morning. She sleeps on an incline for back comfort and does wear her CPAP mask. She has not felt her palpitations like those she experienced when she had AFib for several months. She denies dizziness and syncope. She has noticed weight gain of about 15 pounds in the past couple of months.

 

Past Medical History: Paroxysmal AFib never requiring electrical cardioversion, OSA on a CPAP, hypertension, obesity, hyperlipidemia.

Medications: Aspirin 81 mg daily, metoprolol tartrate 50 mg daily, diltiazem CR 180 mg daily, losartan 100 mg daily, atorvastatin 40 mg daily.

Allergies: Cough on ACE inhibitor.

Social History: She is a homemaker and is on her husband’s commercial health insurance. She denies a history of smoking, alcohol abuse and illicit substance use.

Family History: She has a daughter who is 27 years old and pregnant. She is well. Her other daughter is 24 years old. This daughter passed out a few times in elementary school but has not for several years. She takes medication for her blood pressure. See Richard’s case study for the remainder of the family history.

 

Exam: BMI 48, BP 130/78 mmHg, P 70 bpm, R 18.

General: Appears normal and no apparent distress.

Neck: JVP ~12-15 cm above left atrium.

Heart: Regular heart rate and rhythm, no murmur at rest or with Valsalva maneuver.

Resp: Bilateral crackles in lower lobes.

Extremities: Bilateral 1+ lower extremity edema, palpable pulses bilaterally.

 

Labs: eGFR > 90 mL/min, creatinine 0.6, K 4.5, high sensitivity troponin T 16, NT-proBNP 1,000.

ECG: Sinus rhythm at 63 bpm with LVH and T-wave inversions in anterolateral leads.

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ECHO: Poor imaging quality. Contrast imaging not performed for unclear reasons. LVEF 55%, concentric LVH up to 1.4 cm, no resting LVOT obstruction. Valsalva maneuver images not recorded. No significant valvular disease. IVC not well visualized.

 

Stress echocardiogram for obstruction: Achieved 4.3 METs. Exercise was terminated because of dyspnea. Appropriate hemodynamic response, no arrhythmia, no significant LVOT obstruction at rest, Valsalva or exertion. Mid-LV cavity gradients 10 mmHg rest, 18 mmHg Valsalva and 22 mmHg post-exercise.

 

CMR: Hyperdynamic systolic function, mid/apical LV hypertrophy up to 2.1 cm at the apex, apical cap is thinned/aneurysmal and dyskinetic, normal RV and hyperdynamic function, mild MR and abnormal with patchy delay enhancement involving the mid anterior wall, apical lateral and inferior wall.

 

You diagnose apical variant HCM.