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Published on: August 8, 2022
Update on hypertrophic cardiomyopathy and a guide to the guidelines
Srijita Sen-Chowdhry1,2, Daniel Jacoby3, James C Moon1,4
1Institute of Cardiovascular Science, University College London, Gower Street, London WC1E 6BT, UK.
Insights
Hypertrophic cardiomyopathy (HCM), a common inherited heart condition, may be more prevalent than previously thought. Current management strategies improve life expectancy for most patients with HCM.
Area of Science:
- Cardiology
- Genetics
- Inherited Cardiovascular Disorders
Background:
- Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting approximately 1 in 500 people.
- Prevalence may be underestimated due to limited recognition of early or incomplete phenotypic expressions.
- Clinical features range from diastolic dysfunction to a 'burnt-out' phase, with mortality risks including sudden cardiac death, heart failure, and stroke.
Purpose of the Study:
- To provide a comprehensive review of current clinical guidelines for hypertrophic cardiomyopathy (HCM).
- To highlight updates, knowledge gaps, and implementation challenges in HCM management.
- To discuss advancements in genetics, imaging, and molecular research for future diagnosis and therapy.
Main Methods:
- Review of existing epidemiological data and clinical manifestations of HCM.
- Analysis of contemporary management strategies, including screening, risk stratification, and device implantation.
- Examination of current clinical guidelines from major cardiology organizations (ACC Foundation/AHA, ESC).
Main Results:
- Most individuals with HCM can achieve normal or near-normal life expectancy with contemporary management.
- Guidelines from ACC Foundation/AHA and ESC aid in the evaluation and management of HCM.
- Advances in genetics, imaging, and molecular research are crucial for future diagnostic and therapeutic progress.
Conclusions:
- Effective management strategies and guideline adherence are key to improving outcomes for HCM patients.
- Addressing knowledge gaps and implementation challenges is essential for optimal HCM care.
- Future research in genetics, imaging, and molecular biology holds promise for enhanced diagnosis and treatment of HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment. Disease-related mortality is most often attributable to sudden cardiac death, heart failure, and embolic stroke. The majority of individuals with HCM, however, have normal or near-normal life expectancy, owing in part to contemporary management strategies including family screening, risk stratification, thromboembolic prophylaxis, and implantation of cardioverter-defibrillators. The clinical guidelines for HCM issued by the ACC Foundation/AHA and the ESC facilitate evaluation and management of the disease. In this Review, we aim to assist clinicians in navigating the guidelines by highlighting important updates, current gaps in knowledge, differences in the recommendations, and challenges in implementing them, including aids and pitfalls in clinical and pathological evaluation. We also discuss the advances in genetics, imaging, and molecular research that will underpin future developments in diagnosis and therapy for HCM.
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