Key result
A 10-year-old girl with a Marfan phenotype was diagnosed with an extremely rare isolated cleft of the posterior mitral valve leaflet, with no mutations found in FBN1, TGFBR1, or TGFBR2 genes.
Case Report (n=1)
No
This case highlights the extremely rare occurrence of an isolated posterior mitral valve cleft in a patient with a Marfan phenotype.
May alert clinicians to isolated posterior mitral cleft in Marfan-phenotype children; hypothesis-generating for non-FBN1/TGFBR etiologies.
Isolated cleft of the mitral valve is a very uncommon congenital cause of mitral regurgitation. Most of the clefts involve the anterior leaflet while isolated clefts of the posterior leaflet have been anecdotally reported. We present a child with a Marfan phenotype with mitral incompetence due to a midline (P2) cleft in the posterior mitral leaflet. Marfan syndrome frequently involves the mitral valve causing mitral valve prolapse. Occurrence of a posterior cleft may be an extension of its mitral valve involvement.
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Benatar et al. (2012) conducted a case report in Isolated cleft of the posterior mitral valve leaflet with Marfan phenotype (n=1). Isolated cleft of the posterior mitral valve leaflet was evaluated on Echocardiographic and genetic findings. A 10-year-old girl with a Marfan phenotype was diagnosed with an extremely rare isolated cleft of the posterior mitral valve leaflet, with no mutations found in FBN1, TGFBR1, or TGFBR2 genes.
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