Recognizing Arterial Tortuosity Syndrome in Adulthood

BACKGROUND: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder characterized by arterial elongation, tortuosity, and stenosis. CASE SUMMARY: A 31-year-old woman with childhood peripheral pulmonary artery stenosis was referred for preconception counseling. Examination revealed a high-arched palate, narrow facies, dolichostenomelia, and joint hypermobility. Stress echocardiography demonstrated exercise-induced right ventricular systolic hypertension and incidental carotid tortuosity. Computed tomography angiography revealed tortuosity of the aortic arch, celiac trunk, and pulmonary artery branches. Genetic testing confirmed ATS. Pulmonary artery balloon angioplasty and stenting were performed. She was initiated on metoprolol and referred to maternal-fetal medicine. DISCUSSION: ATS in adulthood may be identified following incidental findings of arterial tortuosity on imaging. ATS should be considered in patients with these findings and syndromic connective tissue features. TAKE-HOME MESSAGES: Imaging is crucial in diagnosing ATS. Echocardiographic findings of right ventricular systolic hypertension and arterial tortuosity should prompt consideration of ATS in the right clinical setting.