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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Familial thoracic aortic aneurysms.

Guillaume Jondeau1, Catherine Boileau

  • 1aService de Cardiologie bDepartement de Genetique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et apparentes, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.

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New classifications for familial thoracic aortic aneurysms improve understanding and treatment. This framework aids in standardizing patient evaluation and personalizing therapies based on genetic and clinical factors.

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Pathophysiology

Background:

  • Familial thoracic aortic aneurysms (FTAAs) are increasingly understood with new genetic data.
  • Pathophysiology is better elucidated, revealing novel disease entities.

Purpose of the Study:

  • To review and synthesize recent advancements in familial thoracic aortic aneurysms.
  • To provide perspective on new data and their implications for classification and treatment.

Main Methods:

  • Review of newly obtained data on familial thoracic aortic aneurysms.
  • Analysis of proposed classification schemes based on genetic and protein pathways.

Main Results:

  • A new classification scheme by the Montalcino Aortic Consortium categorizes FTAAs by protein function (extracellular matrix, TGF-β pathway, contractile apparatus).
  • Disease presentation varies, including aortic aneurysm, extra-aortic vascular risk, and specific extra-aortic features (skeletal, ophthalmologic, neurological, immunological).
  • Insights gained inform potential therapeutic strategies using existing or novel molecules.

Conclusions:

  • The proposed classification enhances understanding of FTAAs.
  • Standardized patient evaluation (vascular and extravascular) and individualized therapy (genotype and phenotype-based) are facilitated.