Key result
TTR Val142Ile variants occur in ~5% of patients with phenotypic hypertrophic cardiomyopathy.
Why the study?
The presence of pathogenic TTR gene variants in patients with phenotypic hypertrophic cardiomyopathy is an underrecognized and clinically important entity requiring better understanding.
What is the prevalence of pathogenic TTR gene variants in patients with phenotypic hypertrophic cardiomyopathy?
Cohort
No
What is the prevalence of pathogenic TTR gene variants in patients with phenotypic hypertrophic cardiomyopathy?
The identification of a 4.7% prevalence of the TTR Val142Ile variant in patients with phenotypic HCM underscores the clinical importance of systematic screening for concomitant cardiac amyloidosis.
Answers are grounded in this paper and cite their sources.
Supports targeted TTR screening in Black HCM patients; extends prior estimates but leaves open need for prospective outcome studies.
Hypertrophic cardiomyopathy is the most common inherited cardiomyopathy, with a prevalence of 1:200 to 1:500. Cardiac amyloidosis, another cardiomyopathy caused by myocardial deposition of abnormally folded TTR protein, can be acquired or hereditary. The presence of pathogenic TTR gene variants in patients with phenotypic HCM is an underrecognized and clinically important entity.
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Kanelidis et al. (2024) conducted a cohort in Hypertrophic cardiomyopathy (HCM). Pathogenic TTR gene variant (Val142Ile) was evaluated on Prevalence of TTR Val142Ile variant. In a cohort of patients with phenotypic hypertrophic cardiomyopathy undergoing genetic testing, the prevalence of the concomitant TTR Val142Ile variant was 4.7%.
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