Young Woman Affected by a Rare Form of Familial Connective Tissue Disorder Associated With Multiple Arterial Pulmonary Stenosis and Severe Pulmonary Hypertension

概要

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A woman with skin findings of a connective tissue disorder, typical of Ehlers-Danlos syndrome, was admitted to the Cardiology Division because of signs of congestive heart failure. Electrocardiogram showed sinus tachycardia, signs of right ventricular enlargement and hypertrophy. Echocardiogram showed right ventricular dilatation, and severe tricuspid regurgitation with indirect signs of severe pulmonary systolic hypertension. Chest computed tomography revealed bilateral and diffuse involvement of the peripheral pulmonary arteries, with kinking and elongation of the pulmonary vessels associated with multiple stenoses and post-stenotic dilatation. On artery angiography an elongation of the aortic root with kinking and coiling of the carotid and vertebral vessels was also detected. This young patient exhibited features of arterial tortuosity syndrome, an uncommon connective tissue disorder, with peculiar dysmorphism and clinical signs overlapping Ehlers-Danlos syndrome.
2007-12-20