Mitral Valve Prolapse: Notching Up The Diagnosis.

Abstract

Background

Mitral valve prolapse affects 2-3% of the general population and 30% of cases are genetic. These syndromes are associated with mutations in transcription factors like NKX2–5, GATA-4, TBX5 and NOTCH signaling pathway that affect the development of the mitral valve.

Case Report

This is a case report of a 28-year-old male who presented with hematemesis of one-week duration. He had acromelia of the hands with dysplastic nails and amelia of the feet. On further evaluation he was found to have mitral valve prolapse and portal hypertension. Thus, a syndromic diagnosis was considered. Whole exome sequencing identified a heterozygous pathogenic NOTCH 1 gene mutation, leading to a diagnosis of Adams-Oliver Syndrome (AOS). A L C Adams Oliver Syndrome is a rare genetic disorder characterized by terminal transverse limb defects, cutis aplasia, cardiac defects along with vascular anomalies. Mitral valve prolapse in Adams Oliver Syndrome is however rare. Mutations in NOTCH 1 also have a higher incidence of cardiac anomalies as this pathway has a pivotal role in cardiac and vascular development.

Conclusion

This highlights the importance of considering genetic syndromes in patients with unexplained congenital anomalies and valvular disease as early recognition and a multidisciplinary approach are essential for optimal management.