Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome. (7th December 2020)

• Record Type: Journal Article
• Authors: Groner, Abraham; Qadir, Asad
• Is Part Of: Cardiology in the young. Volume 30:Number 12(2020)
• Page Start: 1976
• Page End: 1977
• Publication Date: 2020-12-07
• Subjects: Mosaic Turner syndrome, -- Marfan syndrome, -- aortic root dilation; Pediatric cardiology -- Periodicals; 618.9212
• DOI: 10.1017/S1047951120003200
• Languages: English
• ISSNs: 1047-9511

Abstract

Abstract: Patients with a known genetic cause of aortic root dilation usually have a single underlying aetiology, either a single gene defect as in Marfan syndrome or chromosomal anomaly as in Turner syndrome. However, it is possible, although unlikely, for a patient to inherit multiple independent risk factors for aortic root dilation. We describe such a patient, who inherited Marfan syndrome and a very unusual form of mosaic Turner syndrome. Long-term follow-up of this patient may provide insight into the natural history of this unique genetic combination.