Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association

Cardio-facial-cutaneous syndrome is a rare genetic disorder that typically presents with a combination of CHDs, distinctive facial features, and cutaneous abnormalities. Cardio-facial-cutaneous syndrome is usually caused by a genetic change in the BRAF gene but can also be due to genetic change in the MAP2K1, MAP2K2, or KRAS genes. It is an autosomal dominant condition, but most cases are not inherited, due to new genetic change that occurs in the formation of the egg or sperm or shortly after fertilisation. It has been seen previously in the literature where the patient required a mitral valve replacement because of insufficiency. In this case report, we describe a patient with cardio-facial-cutaneous syndrome who also presented with mitral valve prolapse. This rare association expands the spectrum of cardiovascular manifestations in cardio-facial-cutaneous syndrome and highlights the importance of comprehensive cardiovascular evaluation in these patients.