Why the study?
What is the familial prevalence and genetic transmission pattern of idiopathic hypertrophic subaortic stenosis?
Population
30 families with idiopathic hypertrophic subaortic stenosis, including 105 first-degree relatives of the…
Design
Cross-sectional
Authors
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Supports family echocardiographic screening in HCM; leaves open optimal strategies and penetrance estimates in the genetic era.
What is the familial prevalence and genetic transmission pattern of idiopathic hypertrophic subaortic stenosis?
Idiopathic hypertrophic subaortic stenosis (hypertrophic cardiomyopathy) is transmitted as an autosomal dominant trait with high penetrance, and echocardiography is essential for family screening as clinical and ECG findings are often absent.
Clark et al. (1973) studied this question.