New perspectives on the prevalence of hypertrophic cardiomyopathy.
By C. Semsarian, J. Ingles, M. Maron, B. Maron. Journal of the American College of Cardiology, 2015
1,241 citations recorded by the source corpus.
Hypertrophic cardiomyopathy (HCM) is an important genetic heart muscle disease for which prevalence in the general population has not been completely resolved. For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500. However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition for both the clinically expressed disease and the gene-positive-phenotype-negative subset (at risk for developing the disease). Accounting for the potential impact of these initiatives on disease occurrence, the authors have revisited the prevalence of HCM in the general population. They suggest that HCM is more common than previously estimated, which may enhance its recognition in the practicing cardiovascular community, allowing more timely diagnosis and the implementation of appropriate treatment options for many patients.
Subfields: Cardiology and Cardiovascular Medicine, Developmental Neuroscience
View Paper: https://www.semanticscholar.org/paper/07bbead24cddab73dc172b61ab57565c24ded124
Citations in the corpus
- Adaptation and Validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel (2018, neutral): “Results: Adjustments represented disease-/gene-informed specifications (12) or strength adjustments of existing rules (5).”