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The Reply

      We appreciate the letter to the editor by Dormond et al (“Thoracic Aortic Dilation/Aneurysm in Fabry Disease”)
      • Dormond O.
      • Barbey F.
      Thoracic aortic dilation/aneurysm in Fabry disease.
      written in response to our review, “Aortopathies: Etiologies, Genetics, Differential Diagnosis, Prognosis and Management.”
      • Paterick T.E.
      • Humphries J.A.
      • Ammar K.A.
      • et al.
      Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.
      They bring to our attention an evolving finding in a recent work by Barbey et al
      • Barbey F.
      • Qanadli S.D.
      • Juli C.
      • et al.
      Aortic remodelling in Fabry disease.
      highlighting the association between Fabry disease and aortic dilation/aneurysm. The association deserves continued study to better define the pathophysiologic mechanisms leading to aortic dilation/aneurysm.
      Based on this recent publication,
      • Barbey F.
      • Qanadli S.D.
      • Juli C.
      • et al.
      Aortic remodelling in Fabry disease.
      we agree that Fabry disease should be in the differential diagnosis of genetic diseases with potential for ascending aortic dilation/aneurysm.

      References

        • Dormond O.
        • Barbey F.
        Thoracic aortic dilation/aneurysm in Fabry disease.
        Am J Med. 2013; 126: e23
        • Paterick T.E.
        • Humphries J.A.
        • Ammar K.A.
        • et al.
        Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.
        Am J Med. 2013; 126: 670-678
        • Barbey F.
        • Qanadli S.D.
        • Juli C.
        • et al.
        Aortic remodelling in Fabry disease.
        Eur Heart J. 2010; 31: 347-353

      Linked Article

      • Thoracic Aortic Dilation/Aneurysm in Fabry Disease
        The American Journal of MedicineVol. 126Issue 12
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          We read with great interest the review of Paterick et al entitled “Aortopathies: Etiologies, Genetics, Differential Diagnosis, Prognosis and Management.”1 The authors discuss in part the differential diagnoses of ascending aortic aneurysm. We were, however, surprised that Fabry disease was not considered in the list of genetic diseases associated with ascending aortic dilation/aneurysm.
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