Noncompaction cardiomyopathy: a new mechanism for mitral regurgitation with distinct clinical, echocardiographic features and pathological correlations

ABSTRACT

Noncompaction cardiomyopathy [NCCM] is a primary, genetic cardiomyopathy with variable clinical manifestations that include mitral regurgitation [MR]. This study comprised patients diagnosed with NCCM and MR in two cardiac centers [King Abdul-Aziz Cardiac Center, Riyadh, Kingdom of Saudi Arabia and Sudan Heart Institute, Khartoum, Sudan], and seen in the period between 2002 and 2013. The study describes follow up, clinical, echocardiographic, and histopathological findings. Nineteen cases [85% females] were identified. Ten percent of the cases had relapses and remissions of heart failure. Echocardiographic features included leaflet retraction in all patients, characteristic malcoaptation, and a zigzag deformity of anterior leaflet in 57% of patients. Ruptured chordae were found in 15% of the patients. One patient had pathological examination of the mitral valve which showed myxomatous degeneration, and sclerotic and calcific changes. We describe and discuss a new mechanism for MR caused by NCCM with identifiable clinical and echocardiographic features, and pathological correlations