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A newborn was referred to our department for suspected cardiac malformation because of an abnormal elongation of pulmonary arteries detected on the prenatal echocardiography. On postnatal examination, the child presented with downslanting palpebral tissue, overfolded helices, cutis laxa, and joint laxity. Skin fibroblasts, molecular analysis, and lymphocyte chromosome showed no evidence of connective tissue disorder such as Ehlers-Danlos type IV syndrome or deletion of an elastin gene on chromosome 7. Angiography confirmed the presumptive echocardiographic diagnosis of arterial tortuosity syndrome (ATS), revealing a generalised tortuosity and elongation of all major arteries (panels A–C; to view video footage visit the Heart website—http://www.heartjnl.com/supplemental).
ATS is a newly defined genetic syndrome in which is found arterial tortuosity associated with hyperextensible skin and hypermobility of joints. While alteration of elastic fibres is suggestive of a connective tissue disorder, little is known about the underlying genetic cause and the clinical evolution of this disorder. The mode of inheritance seems to be autosomal recessive. Recently a locus was identified at chromosome 20q13.
Competing interests: none