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Familial supravalvular aortic stenosis: a genetic study.
F Chiarella1, F D Bricarelli, G Lupi
1Division of Cardiology, EO Ospedali Galliera, Genoa, Italy.
Journal of Medical Genetics
|February 1, 1989
Summary
This study investigated a large family with supravalvular aortic stenosis (SAS), revealing a 45% disease prevalence. For the first time, it quantifies SAS penetrance at 0.86, confirming incomplete inheritance.
Area of Science:
- Cardiovascular Genetics
- Medical Genetics
- Human Genetics
Background:
- Supravalvular aortic stenosis (SAS) is a rare, autosomal dominant hereditary condition.
- Previous studies were limited by small family groups, hindering penetrance assessment.
- This research examines the largest family cohort reported to date.
Purpose of the Study:
- To determine the penetrance of the supravalvular aortic stenosis trait.
- To analyze the inheritance pattern and expressivity in a large kindred.
- To provide comprehensive clinical and hemodynamic data on SAS.
Main Methods:
- Prospective study of 66 subjects and retrospective analysis of 14 subjects from a 5-generation, 80-member family.
- Clinical examination, ECG, M-mode and 2D echocardiography were utilized.
- Cardiac catheterization was performed in 10 patients for hemodynamic assessment.
Main Results:
- Supravalvular aortic stenosis was present in 36 (45%) of 80 subjects.
- Disease severity varied: 8 severe (22%), 6 moderate (17%), 13 mild (36%), 8 undefined (22%).
- Penetrance (K) was calculated at 0.86, indicating incomplete penetrance with variable expressivity.
Conclusions:
- This study provides the first quantification of supravalvular aortic stenosis penetrance (K=0.86).
- The findings confirm autosomal dominant transmission with incomplete penetrance and variable expressivity.
- The large family size allowed for a robust analysis of SAS inheritance patterns.