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Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results
Evaldas Girdauskas1, Lisa Geist2, Kushtrim Disha3
1Department of Cardiovascular Surgery, University Heart Center Hamburg, Hamburg, Germany.
Summary
Rare genetic variants are common in patients with bicuspid aortic valve (BAV) root disease, suggesting a congenital cause for associated aortopathy. This study identified a wide spectrum of these genetic defects in affected individuals.
Area of Science:
- Cardiovascular Genetics
- Aortic Valve Disease
- Medical Genomics
Background:
- Bicuspid aortic valve (BAV) associated aortopathy is a significant clinical concern.
- Genetic factors contributing to BAV and aortopathy remain incompletely understood.
- Previous analyses of genetic defects in bicuspid aortopathy are limited.
Purpose of the Study:
- To investigate the prevalence of rare genetic variants in patients with bicuspid aortic valve (BAV) and a root phenotype.
- To utilize next-generation sequencing (NGS) for comprehensive genetic analysis in this cohort.
- To identify specific genes associated with BAV root aortopathy.
Main Methods:
- A cohort of 63 patients with BAV and aortic root dilatation was studied.
- Patients underwent systematic follow-up, including aortic imaging and peripheral blood sampling.
- Next-generation sequencing (NGS) was performed using a custom gene panel of 20 candidate genes.
Main Results:
- Rare, potentially or likely pathogenic genetic variants were identified in 30% of patients (19 out of 63).
- NOTCH1 variants were the most frequently observed (n=6).
- Deleterious variants were also found in AXIN1, NOS3, ELN, FBN1, and FN1 genes.
Conclusions:
- A high prevalence of rare genetic variants exists in patients with the BAV root phenotype.
- The findings suggest a potentially congenital origin for aortopathy in this BAV cohort.
- This study highlights the genetic heterogeneity underlying BAV-associated aortopathy.