Left ventricular noncompaction: analysis of a pediatric population.

Introduction: Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the persistence of multiple trabeculations and deep intratrabecular recesses in the ventricular myocardium. Although two-dimensional and color Doppler echocardiography are the most useful diagnostic modalities, cardiac magnetic resonance imaging has proved to have high sensitivity and specificity in the diagnosis of this anomaly.

Objective: To characterize the clinical and imaging features of LVNC in a pediatric population and to assess their evolution.

Methods And Results: We performed a retrospective chart review of five pediatric patients with LVNC, followed at Coimbra Pediatric Hospital between January 1999 and December 2007. Median age at presentation was five months (ranging from one day to 13 years), and they were mainly male (1.5:1). Two of the children had a family history of sudden death. In one case the clinical presentation was cardiac arrest due to ventricular fibrillation and in three others, congestive cardiac failure. None of the five cases had associated congenital cardiac anomalies. Involvement of the ventricular apical region was found in all cases. Four children additionally had ventricular dysfunction which improved with diuretic and vasodilator therapy. Mean follow-up was 34 months, ranging from six months to seven years. In one case a change in the morphological phenotype was noted, from a dilated to a hypertrophic form. In this case and in the child's father a mutation in the MYBPC3 gene was identified, which is associated with hypertrophic cardiomyopathy. No thromboembolic phenomena or deaths occurred during the study period.

Conclusion: In the pediatric population, congestive cardiac failure is the most common clinical presentation of LVNC, which can coexist with other cardiomyopathies, particularly dilated and hypertrophic forms. The sample presented in this analysis is statistically non-significant due to its limited size and the authors highlight the need for larger prospective studies in the pediatric population in order to clarify this disease and its diagnostic criteria.