Case Presentation:
A 40‐year‐old African‐American female with no significant past medical history presented to the ER with orthopnea and dyspnea on exertion for last 6 months which was getting worse over time. She had a positive family history for unknown cardiac disease. The patient was a nonsmoker, physically active, never used any illicit drugs or alcohol, and exercised regularly. Examination revealed a 2 out of 6 holosystolic murmur at the apex along with the lower extremity edema. EKG showed normal sinus rhythm with nonspecific ST changes. An echocardiogram demonstrated mildly dilated left ventricle (ejection fraction, 20%), with moderate mitral valve regurgitation. Cardiovascular magnetic resonance imaging (CMR) showed severely dilated left ventricle with ejection fraction, 22% and heavily trabeculated mid to apical, lateral and anterior segments along with noncompacted:compacted ratios exceeding 2.5. Cardiac catheterization showed clean coronaries with normal hemodynamics. She was started on standard heart failure regimen and anticoagulation. ICD implantation was done and family screening was advised.
Discussion:
Left ventricular noncompaction syndrome (LVNC) is a rare primary genetic cardiomyopathy caused by the arrest of normal embyogenesis in the endocardium and myocardium. This leads to a thickened ventricular wall with two layers consisting of compacted and non‐compacted myocardium. Although a rare cardiomyopathy, the high rates of morbidity and mortality associated with LVNC in children and adults, make it imperative that it is diagnosed appropriately. Overall prevalence has been reported as 0.014‐1.3% with a prevalence of 3‐4% among heart failure patients. Due to improved modalities of cardiac imaging and increased awareness, LVNC is being recognized more frequently. Patients usually presents with chest pain. If not recognized early it can present with heart failure, atrial and ventricular arryhtmias and thromboembolic events, including risk of sudden cardiac arrest. CMR is diagnostic and reveals two‐layered appearance of non‐compacted and compacted myocardium with a ratio >2.5. EKG is nonspecific. There is no specific therapy except for the management based on ejection fraction, presence of arrhythmias and risk of thromboembolism. Familial occurrence is frequent with mainly autosomal dominant transmission. Early cardiology referral and genetic testing of the first‐degree relatives are important to improve the outcome of the disease.
Conclusions:
LVNC is a rare disorder which should be assessed in a patient with CHF of unknown etiology. If not recognized early, LVNC can lead to fatal outcomes. This case report illustrates how the physician, if aware of this diagnostic entity, can make the diagnosis and provide the appropriate treatment including life saving therapy for both patient and family members. Given the strong familial occurrence, genetic screening is recommended in all‐first degree relatives.