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Loeys–Dietz syndrome is a connective tissue disorder known to cause aggressive aortopathy in paediatric patients, but it is extremely rare for cardiovascular events to present during infancy. We report the first successful aortic repair in a neonate with LDS presenting in extremis with an early onset, massive aortic aneurysm.
A 10-month-old girl with type I Loeys–Dietz syndrome developed a conspicuous aortic root aneurysm that was well demonstrated on chest X-ray/CT reconstruction. She underwent successful valve-spare repair of the ascending aorta.
Truncus arteriosus and tetralogy of Fallot with pulmonary atresia may be difficult to differentiate prenatally. We present a case that, on newborn echocardiography, angiography, and intraoperative inspection, shared features of both diagnoses.
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