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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Screening for hypertrophic cardiomyopathy.
Sunayana C Pydah1, Kimberlee Mauck, Chelsea Shultis
1At the time this article was written, Sunayana C. Pydah, Kimberlee Mauck , and Chelsea Shultis were students in the PA program at the University of Lynchburg in Lynchburg, Va. Ms. Pydah now practices in pediatrics at Santa Clara Valley Medical Center in San Jose, Calif. Ms. Mauck practices in the neurological ICU at the University of Virginia Medical Center in Charlottesville, Va., and is an adjunct professor in the PA program at the University of Lynchburg. Ms. Shultis practices in neurosurgery at Riverside Health System in Newport News, Va. At the University of Lynchburg, Jenna Rolfs is program director and an assistant professor in the PA program and practices at the Free Clinic of Central Virginia; Eric Schmidt is an associate professor in the PA program; and Joyce Nicholas is director of evaluation, assessment, and compliance and a professor in the PA program. The authors have disclosed no potential conflicts of interest, financial or otherwise.
Hypertrophic cardiomyopathy (HCM) is a common inherited heart muscle disease affecting all ages, often presenting in adolescents and athletes. Early screening and management are crucial to prevent sudden cardiac death in undiagnosed individuals.
Area of Science:
- Cardiology
- Genetics
- Sports Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy.
- It affects cardiac muscle function, including ventricular, valvular, and cellular levels.
- HCM impacts all age groups but frequently manifests in adolescents and athletes.
Purpose of the Study:
- To outline screening protocols for hypertrophic cardiomyopathy.
- To describe current management strategies for patients diagnosed with HCM.
- To raise awareness about the risks associated with undiagnosed HCM, including sudden cardiac death.
Main Methods:
- Review of existing literature on HCM screening and management.
- Analysis of clinical presentation and risk factors for sudden cardiac death in HCM patients.
- Synthesis of guidelines for diagnosis and treatment of hypertrophic cardiomyopathy.
Main Results:
- Many patients with HCM remain asymptomatic and undiagnosed.
- Adolescents and athletes are a commonly affected demographic.
- Sudden cardiac death is a significant risk, particularly in undiagnosed cases.
Conclusions:
- Comprehensive screening is essential for early detection of HCM.
- Effective management strategies can mitigate risks associated with hypertrophic cardiomyopathy.
- Timely diagnosis and intervention are critical for improving outcomes and preventing mortality in HCM.
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