Why the study?
Identification of persons at risk for complications related to hypertrophic cardiomyopathy is important for reducing mortality and morbidity, and guidance is needed for recognition, diagnosis, prevention, and treatment.
PIEZO1 variants may modify osteoarthritis risk; leaves open validation and therapeutic targeting in age-related disease.
Hypertrophic cardiomyopathy (HCM) is a congenital cardiac disease with an estimated prevalence of 1:500 in the population. Individuals with HCM can present with clinical manifestations that include left ventricular outflow obstruction, cardiac dysrhythmias, diastolic heart failure, cardiac angina, and sudden cardiac death. Current treatments include pharmacologic intervention to reduce heart rate and ventricular contractility as well as surgery or septal alcohol ablation to reduce myocardial septal size. Implantable cardiac defibrillators are considered a treatment option in individuals with HCM who are at an increased risk for sudden cardiac death. The identification of persons at risk for complications related to HCM is important for reducing mortality and morbidity in this population. In addition, diagnosis of HCM in an individual allows the healthcare provider caring for these patients to screen, educate, and institute timely preventative measures in other members of the family. The purpose of this review is to provide clinicians caring for cardiac patients with a guide for recognition, diagnosis, prevention, and treatment of HCM.
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Jennifer Jurynec (2007) studied Osteoarthritis (n=151). PIEZO1 mutations (familial loss-of-function and GWAS gain-of-function alleles) vs. Wild-type PIEZO1 was evaluated.
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