Long Segment Midaortic Stenosis in Williams Syndrome: Report of a Very Rare Presentation

Midaortic syndrome (MAS) is a rare medical condition characterized by thoracoabdominal aortic stenosis or occlusion, resulting in decreased blood supply to the organs and tissues in the lower half of the body. We report a very rare presentation of MAS in a 14-year-old female that was found to have severe stenosis extending from the descending aorta to the level above the bifurcation.

A 14-year-old female with Williams syndrome presented with complaints of headache and chest discomfort on mild exertion. Examination revealed dysmorphic features of William syndrome and different blood pressure between the upper and lower limbs with weak femoral pulses. An ECG showed sinus rhythm with left ventricular hypertrophy. 2-D color flow Doppler echocardiogram revealed mild central mitral regurgitation, minimal aortic regurgitation, and concentric left ventricular hypertrophy. CT angiogram revealed a hypoplastic descending thoracic aorta, an aberrant right subclavian artery, and an arterio-venous fistula communicating between the bronchial artery and the left brachiocephalic vein. The patient was started on two antihypertensive medications, and vascular surgery was consulted for possible future intervention.

Management of midaortic syndrome necessitates a holistic approach customized to the specific patient's requirements and risk assessment. Early detection and intervention are critical in averting severe complications and enhancing long-term prognoses. Continuous investigation and advancement of novel therapies may present supplementary possibilities for addressing this complex and rare ailment.