Probable Loeys–Dietz Syndrome with aortic root dilatation and multiple arterial tortuosity in resource-limited setting : A case report

Loeys–Dietz Syndrome (LDS) is a rare hereditary connective tissue disorder that is characterized by multisystem disorders predisposing individuals to arterial and aortic aneurysms. We present the case of a 17-year-old Bangladeshi male referred to cardiology for assessment of systemic abnormalities and cardiovascular risk. He presented with craniofacial, musculoskeletal, and cutaneous abnormalities including hypertelorism, mandibular ectopic hair, joint hypermobility with mild thoracic scoliosis, residual talipes equinovarus. He had past medical history of surgically corrected congenital anomalies. Based on clinical and radiological findings, he was diagnosed with clinically suspected Loeys–Dietz Syndrome as genetic testing was unavailable. He was managed through a multidisciplinary approach with regular follow-up. This report adds to literature on Loeys–Dietz Syndrome, emphasizing on aortic root dilatation and carotid artery tortuosity as important clinical and radiological features supporting diagnosis of LDS particularly in young patients presenting with characteristic craniofacial abnormalities or suggestive radiological findings. Early recognition and multidisciplinary management are crucial in resource-limited settings to prevent life-threatening vascular complications.