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Calcific aortic stenosis in twins: a clue to its pathogenesis?
1Department of Cardiology, University of Wales College of Medicine, Cardiff, U.K.
European Heart Journal
|January 1, 1990
Summary
Identical twins developed calcific aortic stenosis around age 62. The study suggests aortic valve morphology might be a marker, not the cause, of inherited calcific stenosis.
Area of Science:
- Cardiology
- Genetics
- Valvular Heart Disease
Background:
- Calcific aortic stenosis (CAS) is a common valvular heart disease.
- The etiology of CAS is multifactorial, involving genetic and environmental factors.
- Bicuspid aortic valve (BAV) is a known risk factor for premature CAS.
Observation:
- A pair of identical twins presented with symptomatic calcific aortic stenosis requiring surgery at age 62.
- One twin had a bicuspid aortic valve, while the other had a tricuspid aortic valve.
- The simultaneous presentation in identical twins suggests a strong genetic influence.
Findings:
- The presence of CAS in both identical twins, despite differing aortic valve morphologies (bicuspid vs. tricuspid), challenges the notion that bicuspid morphology is the sole cause of stenosis.
- This case suggests that bicuspid aortic valve may serve as a genetically linked marker for an inherited predisposition to calcific stenosis, rather than being the causative factor itself.
Implications:
- Understanding the genetic underpinnings of CAS is crucial for risk stratification and potential early intervention.
- Further research into inherited predispositions for valvular heart disease is warranted.
- This case highlights the complex interplay between genetics and valve morphology in the development of calcific aortic stenosis.
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