Key result
A child inherited multiple independent risk factors for aortic root dilation, specifically Marfan syndrome and a very unusual form of mosaic Turner syndrome.
Why the study?
Patients with genetic aortic root dilation usually have a single underlying aetiology, but inheriting multiple independent genetic risk factors is possible.
Case Report (n=1)
This case highlights the rare possibility of a patient inheriting multiple independent genetic risk factors for aortic root dilation, which may provide insight into the natural history of this unique combination.
Intensified aortic surveillance may be warranted in dual Marfan-Turner cases; leaves open synergistic dilation risk.
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.
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Groner et al. (2020) conducted a case report in Aortic root dilation, Marfan syndrome, mosaic Turner syndrome (n=1). Co-occurrence of Marfan syndrome and mosaic Turner syndrome was evaluated on Aortic root dilation. A child inherited multiple independent risk factors for aortic root dilation, specifically Marfan syndrome and a very unusual form of mosaic Turner syndrome.
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