Traboulsi syndrome

Extract

A 35-year-old man presented to the hospital with chest pain. He had a history of crystalline subluxation (Panel A), recurrent sprains, and bilateral inguinal hernia. Computed tomography angiography (Panels B and C) showed severe dilation of the ascending aorta (maximum diameter of 103 mm in axial plane) and ruled out dissection. An echocardiogram evidenced severe aortic regurgitation (see Supplementary data online, Video S1). The patient displayed facial dysmorphic features (Panel D) and lacked a family history of aortopathy or consanguinity. A Bentall procedure was performed successfully. Genetic testing (next-generation sequencing panel of 81 genes related to aortic diseases) did not detect any pathogenic variant, despite high suspicion of Marfan syndrome. Further trio-genome sequencing, including his parents, identified in the patient homozygosity (Panel E, arrow) for the c.1110_1112dup (p.Tyr371*) variant in the aspartate-β-hydroxylase gene (ASPH), confirming Traboulsi syndrome.

Traboulsi syndrome¹ is an autosomal recessive multisystem disorder characterized by features of connective tissue disorders, particularly those observed in Marfan syndrome, such as ectopia lentis, aortic dilatation, pectus excavatum, mitral valve prolapse, joint hypermobility, pes planus, or recurrent pneumothorax. Despite initial negative genetic testing, further advanced sequencing techniques were crucial in diagnosing this rare condition,² highlighting the importance of comprehensive genetic evaluation in syndromic aortopathies.