Giant aortic aneurysm in a child with a lethal arteriopathy due to a novel mutation in the FBLN4 gene

A lethal inherited arteriopathy syndrome associated with a novel, homozygous mutation (D203A) of the EFEMP2 (FBLN4) gene was discovered in an ethnically unique cohort of 22 infants from Kerala, India.1 EFEMP2 encodes fibulin-4 that has been identified as a critical determinant of elastogenesis. This connective tissue disease is characterized by a severe vascular phenotype with gross dilatation, elongation, tortuosity and narrowing of elastic arteries, in addition to cutis laxa, joint hyperlaxity and typical facial features.2 Although classified under Autosomal Recessive Cutis Laxa 1B in OMIM, this particular syndrome has a far more lethal outcome than other inherited arteriopathy syndromes including Arterial Tortuosity Syndrome, Loeys-Dietz Syndrome and Marfan Syndrome. In an expanded cohort of 63 patients, the median age at death is 15 months. Our current patient, an isolated survivor, a 14-year-old girl presented with symptoms of dyspnoea on exertion. She was diagnosed with the above-mentioned mutation 5 years ago and was on follow-up for the ascending aortic aneurysm. Her current CT aortogram and 3D reconstruction revealed a dilated ascending aorta of maximum diameter of 12 cm and occupying almost the entire left hemithorax. Due to the mass effect, there was complete left bronchus compression at its origin with a fully collapsed left lung (Figure A–D). The abdominal aorta, arch vessels and intracranial arteries showed a tortuous course consistent with the disease. She underwent ascending aorta and arch replacement using a dacron graft and had an uneventful recovery and is doing well at 2 years follow-up (Figure E and F).