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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
Summary
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.
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