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Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center
Andreea Sorina Afana1,2,3, Robert Daniel Adam1,4,5, Sebastian Militaru2,3
1Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania.
Insights
Advanced diastolic dysfunction is a key feature of end-stage hypertrophic cardiomyopathy (HCM), impacting symptoms and mortality. This finding suggests a need for updated diagnostic criteria and management for HCM patients.
Area of Science:
- Cardiology
- Genetics
- Heart Failure Research
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by myocardial hypertrophy.
- It often leads to diastolic and systolic dysfunction, culminating in heart failure.
- The traditional definition of HCM's 'burn-out' stage focuses on systolic dysfunction.
Purpose of the Study:
- To propose an expanded definition of end-stage hypertrophic cardiomyopathy (HCM) that includes advanced diastolic dysfunction.
- To compare clinical characteristics and outcomes of HCM patients with systolic versus advanced diastolic dysfunction.
Main Methods:
- Retrospective analysis of 696 HCM patients from 2004-2023.
- Defined end-stage HCM as either systolic dysfunction (LVEF < 50%) or advanced diastolic dysfunction (preserved LVEF with specific echocardiographic criteria).
- Compared end-stage HCM subgroups with controls having preserved LVEF and impaired relaxation.
Main Results:
- 94 patients met end-stage HCM criteria (23 systolic, 71 diastolic dysfunction).
- End-stage HCM patients exhibited more symptoms (91.5% vs 75.0%) and advanced heart failure (38.3% vs 6.3%) compared to controls.
- Advanced diastolic dysfunction correlated with increased symptoms (p=0.013) and a significant annual mortality rate (2.34%, p=0.014).
Conclusions:
- Advanced diastolic dysfunction represents an alternative pathway in the progression of hypertrophic cardiomyopathy.
- This finding necessitates broadening the definition of end-stage HCM.
- Distinct management strategies are required for patients with advanced diastolic dysfunction compared to those with systolic dysfunction.
Abstract:
Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder marked by myocardial hypertrophy, leading to diastolic and systolic dysfunction and heart failure. Traditionally, the burn-out stage is defined by systolic dysfunction, but we propose expanding its definition to include advanced diastolic dysfunction. Methods: We retrospectively analyzed HCM patients (2004-2023) with either systolic dysfunction (left ventricular ejection fraction [LVEF] < 50%) or advanced diastolic dysfunction (preserved LVEF with left atrial enlargement and elevated filling pressures: E/A ≥ 2 or E/e' ≥ 14). Both subgroups were included under the term "end-stage HCM" and compared to HCM controls with preserved LVEF and impaired relaxation. Results: Of 696 HCM patients, 94 had end-stage HCM (23 with systolic dysfunction, 71 with advanced diastolic dysfunction). Median age was 56.5 years, and 55.3% were male. End-stage HCM patients were more symptomatic at follow-up than controls (91.5% vs. 75.0%, p-value = 0.006), with higher rates of dyspnea and advanced heart failure (38.3% vs. 6.3%, p-value < 0.001). Advanced diastolic dysfunction was associated with a more symptomatic profile (p-value = 0.013) and a high annual mortality rate (2.34%, p = 0.014). Male sex, older age, lower LVEF, and higher E/A predicted systolic dysfunction. Conclusions: Advanced diastolic dysfunction represents an alternative progression pathway in burn-out HCM, requiring distinct management strategies alongside systolic dysfunction.
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