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.
Original language | English (US) |
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Pages (from-to) | 1976-1977 |
Number of pages | 2 |
Journal | Cardiology in the Young |
Volume | 30 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2020 |
Externally published | Yes |
Keywords
- Marfan syndrome
- Mosaic Turner syndrome
- aortic root dilation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Cardiology and Cardiovascular Medicine