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Cardiomyopathy in Genetic Aortic Diseases

Laura Muiño-Mosquera1,2, Julie De Backer2,3

  • 1Department of Pediatrics, Division of Pediatric Cardiology, Ghent University Hospital, Ghent, Belgium.

Frontiers in Pediatrics
|August 2, 2021
PubMed

Insights

Genetic aortic diseases involve aortic aneurysms or dissection due to genetic defects. This review focuses on myocardial disease and arrhythmias in Marfan syndrome, a key genetic aortic condition.

Area of Science:

  • Cardiovascular Genetics
  • Thoracic Aortic Disease
  • Connective Tissue Disorders

Background:

  • Genetic aortic diseases, including Marfan syndrome, are linked to aortic aneurysms and dissection, posing significant mortality risks.
  • These conditions are part of heritable thoracic aortic disease, encompassing cases with family history but unidentified genetic causes.
  • Aortic valve and atrioventricular valve abnormalities are common, necessitating vigilant management.

Purpose of the Study:

  • To review current data on myocardial disease in Marfan syndrome using human studies and mouse models.
  • To elaborate on the phenotypic presentations of Marfan syndrome in pediatric and adult populations.
  • To discuss the occurrence and implications of arrhythmias in Marfan syndrome and briefly touch upon other genetic aortic diseases.

Main Methods:

  • Review of human studies investigating myocardial disease in Marfan syndrome.
  • Analysis of insights from mouse models of Marfan syndrome.
  • Synthesis of clinical data on phenotypic presentations and arrhythmias.

Main Results:

  • Fibrillin-1 variants in Marfan syndrome are associated with myocardial dysfunction and arrhythmias.
  • Phenotypic manifestations vary between childhood and adulthood.
  • Arrhythmias contribute to morbidity and mortality in Marfan syndrome patients.

Conclusions:

  • Myocardial involvement and arrhythmias are significant clinical concerns in Marfan syndrome.
  • Understanding these manifestations is crucial for patient management and prognosis.
  • Further research into other genetic aortic diseases is warranted.

Keywords:
FBN1 geneHTADMarfan syndromearrhythmiacardiomyopathymyocardial disease

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