Abstract

We report the case of an 18-year-old young man without previous medical history, who was referred for evaluation of an asymptomatic cardiac murmur. Physical examination found holosystolic 4-5/6 apical murmur with normal ECG. Bidimensionnal (2D) echocardiography revealed severe mitral regurgitation with thin mitral leaflets. Three dimensional (3D) Echocardiography done for better assessment of mitral valve regurgitation mechanism revealed an isolated mitral leaflet cleft, without signs of endocarditis or traumatic lesion. Regarding the absence of symptoms and excellent maximal exercise tolerance at stress echocardiography, a repair surgery wasn’t offered. Isolated mitral leaflet cleft is a rare congenital anomaly, in adults, the cleft may be an incidental finding that remains asymptomatic for years when the leak is well tolerated. 2D combined with 3D echocardiography is key for diagnosis and surgery guidance.

Highlights

  • The cleft mitral leaflet is a rare congenital anomaly [1], causing a mitral regurgitation

  • We report the case of an 18-year-old young man without previous medical history, who was referred for evaluation of an asymptomatic cardiac murmur

  • Three dimensional (3D) Echocardiography done for better assessment of mitral valve regurgitation mechanism revealed an isolated mitral leaflet cleft, without signs of endocarditis or traumatic lesion

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Summary

Introduction

The cleft mitral leaflet is a rare congenital anomaly [1], causing a mitral regurgitation. Isolated cleft of the mitral valve, not associated with endocardial cushion defects, is uncommon. This anomaly is defined by a division of the mitral leaflet, due to a fusion. This first description was done in 1954 [2]. Evaluation of this congenital valvular anomaly is best performed by bi-dimensional echocardiography (2D) paired with three-dimensional (3D), viewing anatomic and morphological details, mitral regurgitation mechanism and quantification. We here report a clinical case of a mitral regurgitation occurring secondary to an isolated mitral leaflet cleft, and the value of three-dimensional echocardiography for diagnosis and morphologic evaluation

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