LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy.

A sixteen year old girl presented with history of hemoptysis of one week duration. She had history of dyspnea on exertion and frequent respiratory infections in childhood. She had short stature, hypertelorism, neurofibroma, café au lait spots and multiple lentigines. She had features of severe pulmonary hypertension and differential clubbing and cyanosis. A final diagnosis of LEOPARD syndrome with hypertrophic cardiomyopathy and patent ductus arteriosus (PDA) Eisenmenger syndrome was made.