Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It causes elongation and tortuosity of large and medium-sized arteries with consequent dilatation and/or stenosis. Other features of ATS include: skin/joint laxity, hernia formation, distinct facial features, cardiac valvular regurgitation and other cardiac abnormalities. We present a woman in her early 20s, who presented with mitral regurgitation and was referred for genetic testing due to her tall stature, as Marfan’s syndrome was suspected. However, genetic testing revealed she had ATS. Subsequent MR Angiography illustrated a significantly tortuous arterial anatomy. Differentiating ATS from other connective tissue disorders allows planning of future screening and management.