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

J R Cook1, L Carta, J Galatioto

  • 1Department of Pharmacology and Systems Therapeutics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Clinical Genetics
|May 29, 2014
PubMed

Insights

Marfan syndrome (MFS) and related disorders involve cardiovascular issues due to abnormal transforming growth factor β (TGFβ) signaling. Understanding this pathway is key to developing new therapies for these genetic conditions.

Area of Science:

  • Cardiovascular biology
  • Genetics
  • Molecular medicine

Background:

  • Marfan syndrome (MFS) and related disorders share cardiovascular complications stemming from dysregulated transforming growth factor β (TGFβ) signaling.
  • Unlike MFS, caused by extracellular matrix protein mutations, related syndromes arise from defects in TGFβ pathway components.

Purpose of the Study:

  • To review clinical and experimental findings on the natural history and molecular pathogenesis of cardiovascular manifestations in MFS and related TGFβ pathway disorders.
  • To clarify unresolved issues regarding TGFβ signaling's role in MFS and related conditions, informing potential therapeutic strategies.

Main Methods:

  • Literature review of clinical and experimental studies.
  • Analysis of molecular pathogenesis and natural history of cardiovascular manifestations.
  • Focus on animal models to explore therapeutic interventions.

Main Results:

  • Cardiovascular abnormalities are a primary cause of morbidity and mortality in MFS and related syndromes.
  • Dysregulated TGFβ signaling is a common pathogenic mechanism across these conditions.
  • TGFβ antagonism is a potential therapeutic avenue, but requires further investigation in animal models.

Conclusions:

  • Understanding the shared molecular pathogenesis of cardiovascular disease in MFS and related syndromes is crucial.
  • Further research in animal models is necessary to validate TGFβ antagonism as a safe and effective therapy for patients.
Keywords:
Ghent nosologyMarfan syndrome (MFS)TGFβangiotensin receptor blockers (ARBs)calcium channel blockerscardiomyopathyconnective tissuemutations in gene for fibrillin-1 (FBN1)thoracic and abdominal aortic aneurysmvalvulopathyβ-blockers

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