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October 4, 1973New England Journal of Medicine

46% of 105 first-degree relatives had asymmetric septal hypertrophy, demonstrating that the disorder is transmitted as an autosomal dominant trait with a high degree of penetrance.

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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

CCChester E. ClarkWHWalter L. HenrySEStephen E. Epstein

Discussion

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Overview

Supports family echocardiographic screening in HCM; leaves open optimal strategies and penetrance estimates in the genetic era.

Structured PICO

What is the familial prevalence and genetic transmission pattern of idiopathic hypertrophic subaortic stenosis?

P
Population
30 families with idiopathic hypertrophic subaortic stenosis (asymmetric septal hypertrophy), including 105 first-degree relatives of the probands.
I
Intervention
Echocardiographic screening
O
Outcome
Prevalence and pattern of inheritance of asymmetric septal hypertrophysurrogate

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.

Cite This Study

Clark et al. (1973) studied this question.

synapsesocial.com/papers/6a1033b28090e499da60c4c2https://doi.org/10.1056/nejm197310042891402
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