Marfan’s Syndrome with Tetralogy of Fallot in an Adult Female with Bronchiectasis An Unacquainted Manifestation

Abstract

Marfan’s syndrome is an autosomal dominant genetic disorder related to a mutation in fibrillin gene type 1 involving mainly the cardiovascular, ocular, skeletal, and pulmonary systems. A 22-year-old female patient presented with cough, blood-stained sputum, and fever for 4 months. The patient was tall and on skeletal examination, high arched palate, arm-span longer than height, positive finger thumb sign, arachnodactyly, asymmetrical chest, and skin striae were present. Family history of Marfan’s syndrome was present. Echocardiography showed large ventricular septal defect with aortic override and severe pulmonary stenosis. CECT thorax showed bronchiectasis changes. Marfan’s syndrome with cardiovascular abnormalities usually has aortic dilatation, aortic regurgitation, aortic aneurysm, mitral valve prolapse, mitral regurgitation, etc. In this case, the patient has Marfan’s syndrome with tetralogy of Fallot (TPF) and bronchiectasis. The association of TOF with Marfan’s syndrome is one of the rarest findings.

Keywords

• bronchiectasis; marfan’s syndrome; tetralogy of fallot