Toward precision medicine in vascular connective tissue disorders

Shira G. Ziegler, Gretchen MacCarrick, Harry C. Dietz

Research output: Contribution to journalArticlepeer-review


Tremendous progress has been made in understanding the etiology, pathogenesis, and treatment of inherited vascular connective tissue disorders. While new insights regarding disease etiology and pathogenesis have informed patient counseling and care, there are numerous obstacles that need to be overcome in order to achieve the full promise of precision medicine. In this review, these issues will be discussed in the context of Marfan syndrome and Loeys-Dietz syndrome, with additional emphasis on the pioneering contributions made by Victor McKusick.

Original languageEnglish (US)
Pages (from-to)3340-3349
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2021


  • Loeys-Dietz syndrome
  • Marfan syndrome
  • connective tissue disorders

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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