Introduction: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare myocardial disorder characterized by prominent left ventricular trabeculation, deep intertrabecular recesses on the luminal surface of the ventricular wall and noncompacted-to-compacted ratio >2. LVNC can be an autosomal, X-linked or a mitochondrial disorder. The diagnosis is reached by echocardiography and cardiac magnetic resonance imaging. Clinical manifestations of LVNC can vary from no symptoms to severe heart failure, malignant arrhythmias, thromboembolic events or even sudden cardiac death. Prognosis is incompletely described in children. Ventricular dilation, systolic dysfunction and arrhythmias increase the risk for sudden death.
Case presentation: We present the case of a pediatric patient with left ventricular noncompaction cardi-omyopathy, no other primary cardiac structural abnor-malities, mental retardation and epilepsy. We perfor-med also literature review on etiology, clinical presen-tation, diagnosis and management of left ventricular noncompaction cardiomyopathy.
An 11-year-old patient presented with severe heart failure. Echocardiography was highly suggestive for an isolated form of noncompaction of the left ventricle, proving a severe left ventricle systolic dysfunction with LV ejection fraction less than 20%. The patient recor-ded high values of NT-pro-BNP, but no arrhythmias or cardiac embolic events. Diuretics and antithrombotic therapy was started with mild improvement of heart fa-ilure. Screening of all first-degree relatives was perfor-med by echocardiography excluding LVNC in another family member.
Conclusions: Isolated left ventricular noncompaction is a rare form of primary genetic cardiomyopathy. Our patient presented with severe left ventricular systolic dysfunction and congestive heart failure. Echocardio-graphy was highly diagnostic. The association of epi-lepsy and mental retardation in our patient may orien-tate mostly toward a genetic syndrome. An early and precise diagnosis of LVNC is essential to minimizing the associated risks.