Abstract:

Neurofibromatosis (NF) Type 1 is a multisystem disorder, affecting primarily the skin, nervous and musculoskeletal systems. It is characterized by cutaneous findings, such as café-au-lait spots and freckling, by skeletal dysplasias, and by the benign or malignant nervous system tumors. Cardiovasculer system is rarely involved. Congenital heart defects, cardiomyopathy, renal artery stenosis, hypertension are main clinical features of cardiovascular involvement in NF1. Mitral valve prolapse (MVP) is usually seen in Marfan syndrome, Ehlers-Danlos syndrome and mucopolysaccharidosis. NF 1 overlap with MVP is very rare. The patient was referred our clinic because of heart murmur. And she had café-au-lait spots on her skin, scoliosis, mid-to-late systolic click at the apex, late systolic 2/6 murmur and mild mental retardation on her physical examination. Echocardiogram revealed that mitral valve prolapse and mitral valve insufficieny. We aimed to present this case because of cardiovasculer diseases overlap with NF is a rare condition

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