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 …