Cardiovascular manifestations in marfan syndrome and related diseases; multiple genes causing similar phenotypes

J. R. Cook, L. Carta, J. Galatioto, F. Ramirez

Research output: Contribution to journalReview articlepeer-review

48 Scopus citations


Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with MFS, the pathogenic contribution of dysregulated transforming growth factor β (TGFβ) signaling. They include Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome and syndromic thoracic aortic aneurysms. Unlike the causal association of MFS with mutations in an extracellular matrix protein (ECM), the aforementioned conditions are due to defects in components of the TGFβ pathway. While TGFβ antagonism is being considered as a potential new therapy for these heritable syndromes, several points still need to be clarified in relevant animal models before this strategy could be safely applied to patients. Among others, unresolved issues include whether elevated TGFβ signaling is responsible for all MFS manifestations and is the common trigger of disease in MFS and related conditions. The scope of our review is to highlight the clinical and experimental findings that have forged our understanding of the natural history and molecular pathogenesis of cardiovascular manifestations in this group of syndromic conditions.

Original languageEnglish (US)
Pages (from-to)11-20
Number of pages10
JournalClinical Genetics
Issue number1
StatePublished - Jan 1 2015
Externally publishedYes


  • Angiotensin receptor blockers (ARBs)
  • Calcium channel blockers
  • Cardiomyopathy
  • Connective tissue
  • Ghent nosology
  • Marfan syndrome (MFS)
  • Mutations in gene for fibrillin-1 (FBN1)
  • TGFβ
  • Thoracic and abdominal aortic aneurysm
  • Valvulopathy
  • β-blockers

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Cardiovascular manifestations in marfan syndrome and related diseases; multiple genes causing similar phenotypes'. Together they form a unique fingerprint.

Cite this