Familial thoracic aortic aneurysms and dissections: Three families with early-onset ascending and descending aortic dissections in women

Van Tran-Fadulu, Julia H. Chen, Danielle Lemuth, Bo T. Neichoy, Jiuhong Yuan, Nathan Gomes, Elizabeth Sparks, Larry A. Kramer, Dongchuan Guo, Hariyadarshi Pannu, Alan C. Braverman, Sanjay Shete, Dianna M. Milewicz

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Ascending thoracic aortic aneurysms leading to type A dissections can be inherited in an autosomal dominant manner with variable age of onset and decreased penetrance, primarily in women. Three families are described with autosomal dominant inheritance of either ascending aortic aneurysms leading to type A dissections or type B dissections, and a young age of onset of aortic dissections in both men and women. Pedigree analysis suggests that a de novo mutation is responsible for the disease in one family. The discordant age of onset of aortic disease in a monozygotic twin pair in a different family indicates that environmental or stochastic factors may influence the variable expression of disease. Genetic analysis of one family excluded linkage to known loci for TAAD (TAAD1, TAAD2, FAA1, or FBN1) and sequence analysis failed to identify mutations in TGFBR2, the gene encoding transforming growth factor beta receptor type II. Thus, a novel unidentified loci may be responsible for the phenotype in these three families.

Original languageEnglish
Pages (from-to)1196-1202
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number11
DOIs
StatePublished - Jun 1 2006

Keywords

  • Aneurysm
  • Aorta
  • Dissection
  • Familial thoracic aortic aneurysms and dissections
  • Genetics

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    Tran-Fadulu, V., Chen, J. H., Lemuth, D., Neichoy, B. T., Yuan, J., Gomes, N., Sparks, E., Kramer, L. A., Guo, D., Pannu, H., Braverman, A. C., Shete, S., & Milewicz, D. M. (2006). Familial thoracic aortic aneurysms and dissections: Three families with early-onset ascending and descending aortic dissections in women. American Journal of Medical Genetics, Part A, 140(11), 1196-1202. https://doi.org/10.1002/ajmg.a.31236