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Updated: Nov 3, 2025

Quantitative Micro-CT Analysis of Aortopathy in a Mouse Model of β-aminopropionitrile-induced Aortic Aneurysm and Dissection
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Quantitative Micro-CT Analysis of Aortopathy in a Mouse Model of β-aminopropionitrile-induced Aortic Aneurysm and Dissection

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Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy

Alejandro Junco-Vicente1, Álvaro Del Río-García2, María Martín1,2,3

  • 1Cardiology Department, Heart Area, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain.

International Journal of Molecular Sciences
|June 2, 2021
PubMed

Insights

Bicuspid aortic valve (BAV) with aortopathy is a common congenital heart defect. Ongoing research into its genetic and molecular basis aims to improve diagnosis and treatment for this complex cardiovascular disease.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Molecular Biology

Background:

  • Bicuspid aortic valve (BAV) associated with aortopathy is the most prevalent congenital heart disease.
  • BAV is a complex, heterogeneous condition leading to valvular disease, aneurysms, and dissections.
  • Despite research, the pathophysiology of BAV remains incompletely understood, with genetics explaining only 5-10% of cases.

Purpose of the Study:

  • To review recent advancements in molecular and genetic investigations of bicuspid aortopathy.
  • To highlight the ongoing search for therapeutic targets to prevent BAV-associated disease progression.

Main Methods:

  • Review of current literature on molecular and genetic studies related to bicuspid aortopathy.
  • Focus on genetic mutations, molecular alterations (e.g., TGF-β pathway, microRNAs), and extracellular matrix degradation.

Main Results:

  • Identification of numerous genetic mutations and molecular pathways implicated in BAV development.
  • Understanding of cellular processes like extracellular matrix remodeling and metalloproteinase activity.

Conclusions:

  • Continued basic and clinical research is crucial for understanding BAV.
  • Advances in molecular and genetic knowledge may soon impact patient diagnosis, follow-up, prognosis, and therapy.

Keywords:
aortopathybicuspid aortic valvebicuspid aortopathybiomarkerscongenital heart diseasegenetics

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