Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome

Abraham Groner, Asad Qadir

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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 languageEnglish (US)
Pages (from-to)1976-1977
Number of pages2
JournalCardiology in the Young
Issue number12
StatePublished - Dec 2020
Externally publishedYes


  • Marfan syndrome
  • Mosaic Turner syndrome
  • aortic root dilation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine


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