Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

A female newborn was referred at birth to our hospital because of respiratory distress. Her family history was unremarkable except for the first-degree consanguinity of her parents. She had a mildly dysmorphic appearance, generalized hypotonia, and several musculoskeletal features such as joint laxity, arachnodactyly, pectus excavatum, flexion contracture of the wrists, and feet anomalies (Figure 1). Chest radiography showed a right pneumothorax, lungs with a ground glass appearance, elevation of the right hemidiaphragm, and scoliosis (Figure 2). ECG was normal for the age of patient except for a mild left ventricular hypertrophy (Figure 3). Transthoracic echocardiography revealed an aortic annulus of 7.4 mm with mild aortic insufficiency, a dilated aortic root (11 mm), and an ascending aortic aneurysm (11 mm) with a normal-sized aortic arch and descending aorta. The pulmonary trunk also was dilated (11 mm). Intracardiac morphology was normal. Ophthalmologic evaluation was normal. At 6 months, further diagnostic assessment with computed tomography confirmed the ECG findings (Figure 4), showing extreme arterial tortuosity involving the aortic arch, supraaortic trunks, pulmonary branches, and descending aorta (Figure 5) and extending from the cerebral vessels to the periphery (Figure 6). At that time, dilation of the aneurysm had progressed (ascending aorta 27 mm; aortic root 22 mm) despite treatment with -blockers. Because these features overlap with several neonatal forms of well-described rare disorders such as Loeys-Dietz syn-