Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction
<b>Background</b>: 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 i...
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MDPI AG
2025-04-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/15/9/1134 |
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| author | Andreea Sorina Afana Robert Daniel Adam Sebastian Militaru Sebastian Onciul Oana Andrei Adela Chirita Emandi Maria Puiu Constantin Militaru Ruxandra Jurcut |
| author_facet | Andreea Sorina Afana Robert Daniel Adam Sebastian Militaru Sebastian Onciul Oana Andrei Adela Chirita Emandi Maria Puiu Constantin Militaru Ruxandra Jurcut |
| author_sort | Andreea Sorina Afana |
| collection | DOAJ |
| description | <b>Background</b>: 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. <b>Methods</b>: 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. <b>Results</b>: 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%, <i>p</i>-value = 0.006), with higher rates of dyspnea and advanced heart failure (38.3% vs. 6.3%, <i>p</i>-value < 0.001). Advanced diastolic dysfunction was associated with a more symptomatic profile (<i>p</i>-value = 0.013) and a high annual mortality rate (2.34%, <i>p</i> = 0.014). Male sex, older age, lower LVEF, and higher E/A predicted systolic dysfunction. <b>Conclusions</b>: Advanced diastolic dysfunction represents an alternative progression pathway in burn-out HCM, requiring distinct management strategies alongside systolic dysfunction. |
| format | Article |
| id | doaj-art-1e7c3df578cd413eb1290c73f6faead3 |
| institution | OA Journals |
| issn | 2075-4418 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-1e7c3df578cd413eb1290c73f6faead32025-08-20T02:24:45ZengMDPI AGDiagnostics2075-44182025-04-01159113410.3390/diagnostics15091134Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic DysfunctionAndreea Sorina Afana0Robert Daniel Adam1Sebastian Militaru2Sebastian Onciul3Oana Andrei4Adela Chirita Emandi5Maria Puiu6Constantin Militaru7Ruxandra Jurcut8Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, RomaniaExpert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, RomaniaEmergency Clinical County Hospital Craiova, 1 Tabaci Street, 200642 Craiova, RomaniaCardiology Department, University of Medicine and Pharmacy “Carol Davila”, 8 Eroii Sanitari Blvd., 050474 Bucharest, RomaniaExpert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, RomaniaRegional Center of Medical Genetics Timiș, Part of ERN ITHACA, Clinical Emergency Hospital for Children “Louis Țurcanu” Timisoara, 2 Doctor Iosif Nemoianu Street, 300011 Timisoara, RomaniaInstitute for Research and Development in Genomics, 37 Dionisie Lupu, 020021 Bucharest, RomaniaEmergency Clinical County Hospital Craiova, 1 Tabaci Street, 200642 Craiova, RomaniaExpert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania<b>Background</b>: 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. <b>Methods</b>: 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. <b>Results</b>: 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%, <i>p</i>-value = 0.006), with higher rates of dyspnea and advanced heart failure (38.3% vs. 6.3%, <i>p</i>-value < 0.001). Advanced diastolic dysfunction was associated with a more symptomatic profile (<i>p</i>-value = 0.013) and a high annual mortality rate (2.34%, <i>p</i> = 0.014). Male sex, older age, lower LVEF, and higher E/A predicted systolic dysfunction. <b>Conclusions</b>: Advanced diastolic dysfunction represents an alternative progression pathway in burn-out HCM, requiring distinct management strategies alongside systolic dysfunction.https://www.mdpi.com/2075-4418/15/9/1134hypertrophic cardiomyopathyend-stage hypertrophic cardiomyopathyburn-out hypertrophic cardiomyopathy |
| spellingShingle | Andreea Sorina Afana Robert Daniel Adam Sebastian Militaru Sebastian Onciul Oana Andrei Adela Chirita Emandi Maria Puiu Constantin Militaru Ruxandra Jurcut Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction Diagnostics hypertrophic cardiomyopathy end-stage hypertrophic cardiomyopathy burn-out hypertrophic cardiomyopathy |
| title | Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction |
| title_full | Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction |
| title_fullStr | Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction |
| title_full_unstemmed | Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction |
| title_short | Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction |
| title_sort | clinical characteristics and prognosis of patients with end stage hypertrophic cardiomyopathy from a tertiary center cohort systolic dysfunction and advanced diastolic dysfunction |
| topic | hypertrophic cardiomyopathy end-stage hypertrophic cardiomyopathy burn-out hypertrophic cardiomyopathy |
| url | https://www.mdpi.com/2075-4418/15/9/1134 |
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