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Published on: November 2, 2020
Living with hypertrophic cardiomyopathy: a patient's perspective
Wendy Borsari1,2, Lindsay Davis3,2, Eric Meiers4,2
1Medical consultant, HCM patient, Plymouth, MA 02360, USA.
Insights
Hypertrophic cardiomyopathy (HCM) is a complex heart muscle disease. Patient stories reveal diagnostic and symptom management challenges, emphasizing the need for better understanding to improve quality of life.
Area of Science:
- Cardiology
- Genetics
- Patient Advocacy
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease causing thickening of the cardiac walls.
- Symptoms like chest pain, shortness of breath, and fainting are common but often misdiagnosed.
- Current treatments focus on symptom relief, with surgery for severe cases, yet the patient experience is under-documented.
Purpose of the Study:
- To highlight the humanistic burden of HCM through patient testimonials.
- To illustrate the challenges in diagnosing and managing HCM symptoms.
- To inform disease diagnosis, monitoring, and improve patient outcomes.
Main Methods:
- Presentation of four anonymized patient testimonials.
- Qualitative analysis of patient experiences across generations.
- Focus on diagnostic and symptomatic management challenges.
Main Results:
- Testimonials reveal significant difficulties in achieving accurate HCM diagnosis.
- Patient narratives underscore the variability and impact of symptoms on daily life.
- Insights into the generational spectrum and expression of HCM were shared.
Conclusions:
- Patient testimonials offer crucial insights into the lived experience of HCM.
- Addressing diagnostic and management challenges can improve patient quality of life.
- Understanding the humanistic burden is key to optimizing HCM care and outcomes.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a complex disease characterized by thickening of the cardiac muscle. Common symptoms include chest pain, shortness of breath, palpitations, fatigue and syncope (fainting), which are often confused for other conditions. Clinical treatment focuses on the relief of symptoms with medical therapies, which provide adequate to more variable symptomatic relief. Patients may experience more severe complications that require surgical intervention, such as implantable cardioverter-defibrillator therapy or septal myectomy. Despite the potential impact on quality of life, the humanistic burden of HCM is not well established. Here, we present four patient testimonials that highlight challenges faced by patients and clinicians in diagnosing HCM and managing symptoms. These testimonials provide valuable information on the spectrum and expression of HCM across generations. Such testimonials can better inform disease diagnosis and monitoring, maximizing quality of life and improving disease outcome.
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