A 63–year–old man presented with four 4 days of palpitations, progressive dyspnea on exertion, and orthopnea. He denied chest pain, cough, or fever. He had no personal history of arrhythmia or ischemic heart disease, and no family history of coronary artery disease or sudden cardiac death. His only medication was a multivitamin. He consumed alcohol rarely, did not smoke, and regularly exercised prior to the current presentation. On exam, he was afebrile with a heart rate of 92, blood pressure 110/80, respirations 16, and oxygen saturations were 99% on room air. He had moderate conversational dyspnea. Jugular veins were distended to 12 cm. He had bibasilar crackles, a regular cardiac rhythm with an S3, a palpable liver edge, and no peripheral edema. His labs included a creatinine of 1.6, BNP of 1100, and a negative troponin. Chest radiograph showed interstitial edema and cardiomegaly. An echocardiogram showed global left ventricular hypokinesis with prominent trabeculations and communicating sinusoids consistent with left ventricular non–compaction (Figure 1). He was started on furosemide, carvedilol, lisinopril, and warfarin. An implantable cardioverter–defibrillator (ICD) was placed.
Congestive heart failure is commonly encountered by hospitalists. While most cases are caused by hypertension and ischemic heart disease, it is important that hospitalists be familiar with the less common etiologies of heart failure to avoid premature closure bias. This patient had typical findings of congestive heart failure but lacked traditional risk factors; his echocardiogram showed findings consistent with left ventricular non–compaction. Left ventricular non–compaction is a rare genetic abnormality of myocardial sarcomere proteins that leads to abnormal left ventricular architecture. Patients often present with heart failure, arrhythmias, or sudden cardiac death. This patient’s late age at presentation is atypical; his presenting symptoms were likely caused by a tachyarrhythmia leading to a tachycardia–induced cardiomyopathy. Current practice recommendations include ICD placement for patients with a decreased ejection fraction and anticoagulation to reduce the risk of systemic embolization. The management of heart failure in patients with left ventricular non–compaction is similar to those with heart failure of other etiologies.
Left ventricular non–compaction is a rare, heritable cause of congestive heart failure and arrhythmia. Patients with risk factors for stroke or a reduced ejection fraction should be managed with anticoagulation. Indications for ICD include a personal history of ventricular arrhythmias, family history of sudden cardiac death, or reduced ejection fraction. First degree relatives should be screened with echocardiography
Figure 1Echocardiogram showing prominent trabeculations diagnostic of left ventricular non–compaction.