A 19-year-old man presented with sudden onset of right eye ptosis, diplopia and giddiness. He had no previous medical illnesses with negative history of exertional dyspnoea, epistaxis, haemoptysis, palpitations, chest pain and chronic cough. Examination revealed central cyanosis, digital clubbing, polycythaemia, partial ptosis of right eye, diplopia on right gaze and dilated right pupil. Examination of the chest revealed pectus excavatum but no cardiac murmurs were heard. Investigations revealed a solitary right pulmonary arteriovenous malformation with two feeder vessels which were successfully embolized surgically.
We present a 14-year-old boy with Loey-Dietz syndrome with severe mitral regurgitation, pectus excavatum and scoliosis. The Haller index was 25. The heart was displaced into the left hemithorax. The right inferior pulmonary vein was very close to the sternum and vertebral body. Single-stage surgery was performed. An osseo-myo-cutaneous pedicled flap was created by sterno-manubrial junction dislocation and rib resection with bilateral internal mammary arteries supplying the flap. Cardiopulmonary bypass and mitral valve replacement was performed. The defect was bridged with three straight plates. The flap was laid on top and anchored. Early outcome at three months was good.