Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy

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Lut Van Laer1, Dorien Proost, Bart L Loeys

  • 1Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650 Antwerp, Edegem, Belgium.

European Journal of Pediatrics
|July 18, 2012
PubMed

Insights

Heritable connective tissue diseases, including thoracic aortic aneurysm/dissection, involve extracellular matrix and transforming growth factor beta (TGFβ) signaling. New therapies targeting TGFβ signaling are in clinical trials.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Rheumatology

Background:

  • Heritable connective tissue diseases are multisystemic disorders with significant morbidity and mortality.
  • These diseases involve extracellular matrix defects and altered cytokine sequestration, notably transforming growth factor beta (TGFβ).

Purpose of the Study:

  • To review clinical characteristics, molecular findings, and therapeutic strategies for syndromic and non-syndromic thoracic aortic aneurysm/dissection.
  • To highlight the role of disturbed TGFβ signaling in these conditions.

Main Methods:

  • Review of existing literature on heritable connective tissue diseases.
  • Analysis of clinical and molecular data related to thoracic aortic aneurysm/dissection.
  • Examination of therapeutic strategies targeting TGFβ signaling.

Main Results:

  • Disturbed TGFβ signaling is implicated in various heritable connective tissue diseases, including Marfan syndrome, Loeys-Dietz syndrome, and thoracic aortic aneurysm/dissection.
  • These findings have identified new therapeutic targets.

Conclusions:

  • Angiotensin II type 1 receptor antagonists, which inhibit TGFβ signaling, are under investigation in large clinical trials.
  • Understanding the molecular basis of these diseases is crucial for developing effective treatments for thoracic aortic aneurysm/dissection.

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