Arterial tortuosity syndrome presenting as severe precapillary pulmonary hypertension in adulthood

Arterial tortuosity syndrome (ATS) is an ultra-rare hereditary connective tissue disorder characterized by elongation and extreme tortuosity of medium- and large-caliber arteries. Adult presentation is exceptional, and pulmonary arterial involvement as a cause of severe precapillary pulmonary hypertension is rarely reported.

A 47-year-old woman presented with progressive exertional dyspnea (WHO functional class II-III). Echocardiography and right heart catheterization confirmed severe precapillary pulmonary hypertension with markedly elevated pulmonary vascular resistance. Advanced vascular imaging and pulmonary angiography demonstrated bilateral pulmonary artery looping with dynamic functional stenoses, without fixed obstruction. Diffuse systemic arterial tortuosity and subsequent genetic testing, which identified a pathogenic variant in the SLC2A10 gene, definitively confirmed the diagnosis of ATS.

Dynamic pulmonary artery tortuosity can produce severe precapillary pulmonary hypertension despite preserved distal perfusion. ATS should be considered in unexplained cases with atypical pulmonary arterial anatomy.