Response to Pyeritz et al.

摘要

To the Editor: Subsequent to the meeting of the "Montalcino Consortium," the Marfan Foundation convened a more inclusive gathering in Boston of all invested parties to discuss the important issue of nosology for inherited presentations of thoracic aortic aneurysm. In addition to representatives from the Montalcino Consortium, participants included leaders from many additional centers of excellence in the care of thoracic aortic disease and patients and representatives from patient advocacy groups including the US and Canadian Marfan foundations and the US Loeys-Dietz Syndrome Foundation. Virtually all of the comments and concerns raised by Pyeritz et al. in their letter, "Loeys-Dietz Syndrome Is a Specific Phenotype and Not a Concomitant of Any Mutation in a Gene Involved in TGF-beta Signaling," were discussed in detail. We welcome this opportunity to more thoroughly present the prevailing themes of this meeting.