Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis
Abstract Aims To describe the phenotype, genetics, and events associated with the development of hypertrophic cardiomyopathy (HCM) with reduced ventricular function (HCMr). Heart failure in HCM is usually associated with preserved ejection fraction, yet some HCM patients develop impaired systolic fu...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-08-01
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| Series: | ESC Heart Failure |
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| Online Access: | https://doi.org/10.1002/ehf2.13914 |
| _version_ | 1818510510374518784 |
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| author | Yishay Wasserstrum José M. Larrañaga‐Moreira Cristina Martinez‐Veira Edward Itelman Dor Lotan Avi Sabbag Rafael Kuperstein Yael Peled Dov Freimark Roberto Barriales‐Villa Michael Arad |
| author_facet | Yishay Wasserstrum José M. Larrañaga‐Moreira Cristina Martinez‐Veira Edward Itelman Dor Lotan Avi Sabbag Rafael Kuperstein Yael Peled Dov Freimark Roberto Barriales‐Villa Michael Arad |
| author_sort | Yishay Wasserstrum |
| collection | DOAJ |
| description | Abstract Aims To describe the phenotype, genetics, and events associated with the development of hypertrophic cardiomyopathy (HCM) with reduced ventricular function (HCMr). Heart failure in HCM is usually associated with preserved ejection fraction, yet some HCM patients develop impaired systolic function that is associated with worse outcomes. Methods and results Our registry included 1328 HCM patients from two centres in Spain and Israel. Patients with normal baseline ventricular function were matched, and a competing‐risk analysis was performed to find factors associated with HCMr development. Patient records were reviewed to recognize clinically significant events that occurred closely before the development of HCMr. Genetic data were collected in patients with HCMr. A composite of all‐cause mortality or ventricular assist device (VAD)/heart transplantation was assessed according to ventricular function. Median age was 56, and 34% were female patients. HCMr at evaluation was seen in 37 (2.8%) patients, and 46 (3.5%) developed HCMr during median follow up of 9 years. HCMr was associated with younger age of diagnosis, poor functional class, and ventricular arrhythmia. Atrial fibrillation, pacemaker implantation, and baseline left ventricular ejection fraction (LVEF) of ≤55% were significant predictors of future HCMr development, while LV obstruction predicted a lower risk. Genetic testing performed in 53 HCMr patients, identifying one or more pathogenic variant in 38 (72%): most commonly in myosin binding protein C (n = 20). Six of these patients had an additional pathogenic variant in one of the sarcomere genes. Patients with baseline HCMr had a higher risk (hazard ratio 6.4, 4.1–10.1) for the composite outcome and for the individual components. Patients who developed HCMr in the course of the study had similar mortality but a higher rate of VAD/heart transplantation compared with HCM with normal LVEF. Conclusions Hypertrophic cardiomyopathy with reduced ejection fraction is associated with heart failure and poor outcome. Arrhythmia, cardiac surgery, and device implantation were commonly documented prior to HCMr development, suggesting they may be either a trigger or the result of adverse remodelling. Future studies should focus on prediction and prevention of HCMr. |
| first_indexed | 2024-12-10T23:20:56Z |
| format | Article |
| id | doaj.art-6ea0465872dc4b94a3bdb7982da44eb4 |
| institution | Directory Open Access Journal |
| issn | 2055-5822 |
| language | English |
| last_indexed | 2024-12-10T23:20:56Z |
| publishDate | 2022-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | ESC Heart Failure |
| spelling | doaj.art-6ea0465872dc4b94a3bdb7982da44eb42022-12-22T01:29:43ZengWileyESC Heart Failure2055-58222022-08-01942301231210.1002/ehf2.13914Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosisYishay Wasserstrum0José M. Larrañaga‐Moreira1Cristina Martinez‐Veira2Edward Itelman3Dor Lotan4Avi Sabbag5Rafael Kuperstein6Yael Peled7Dov Freimark8Roberto Barriales‐Villa9Michael Arad10Leviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelUnidad de Cardiopatías Familiares, Cardiology Service, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS) Universidade da Coruña A Coruña SpainUnidad de Cardiopatías Familiares, Cardiology Service, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS) Universidade da Coruña A Coruña SpainLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelUnidad de Cardiopatías Familiares, Cardiology Service, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS) Universidade da Coruña A Coruña SpainLeviev Heart Center, Sheba Medical Center in Tel‐Ha'Shomer Ramat‐Gan IsraelAbstract Aims To describe the phenotype, genetics, and events associated with the development of hypertrophic cardiomyopathy (HCM) with reduced ventricular function (HCMr). Heart failure in HCM is usually associated with preserved ejection fraction, yet some HCM patients develop impaired systolic function that is associated with worse outcomes. Methods and results Our registry included 1328 HCM patients from two centres in Spain and Israel. Patients with normal baseline ventricular function were matched, and a competing‐risk analysis was performed to find factors associated with HCMr development. Patient records were reviewed to recognize clinically significant events that occurred closely before the development of HCMr. Genetic data were collected in patients with HCMr. A composite of all‐cause mortality or ventricular assist device (VAD)/heart transplantation was assessed according to ventricular function. Median age was 56, and 34% were female patients. HCMr at evaluation was seen in 37 (2.8%) patients, and 46 (3.5%) developed HCMr during median follow up of 9 years. HCMr was associated with younger age of diagnosis, poor functional class, and ventricular arrhythmia. Atrial fibrillation, pacemaker implantation, and baseline left ventricular ejection fraction (LVEF) of ≤55% were significant predictors of future HCMr development, while LV obstruction predicted a lower risk. Genetic testing performed in 53 HCMr patients, identifying one or more pathogenic variant in 38 (72%): most commonly in myosin binding protein C (n = 20). Six of these patients had an additional pathogenic variant in one of the sarcomere genes. Patients with baseline HCMr had a higher risk (hazard ratio 6.4, 4.1–10.1) for the composite outcome and for the individual components. Patients who developed HCMr in the course of the study had similar mortality but a higher rate of VAD/heart transplantation compared with HCM with normal LVEF. Conclusions Hypertrophic cardiomyopathy with reduced ejection fraction is associated with heart failure and poor outcome. Arrhythmia, cardiac surgery, and device implantation were commonly documented prior to HCMr development, suggesting they may be either a trigger or the result of adverse remodelling. Future studies should focus on prediction and prevention of HCMr.https://doi.org/10.1002/ehf2.13914Hypertrophic cardiomyopathyHeart failureSystolic dysfunctionGenetics |
| spellingShingle | Yishay Wasserstrum José M. Larrañaga‐Moreira Cristina Martinez‐Veira Edward Itelman Dor Lotan Avi Sabbag Rafael Kuperstein Yael Peled Dov Freimark Roberto Barriales‐Villa Michael Arad Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis ESC Heart Failure Hypertrophic cardiomyopathy Heart failure Systolic dysfunction Genetics |
| title | Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis |
| title_full | Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis |
| title_fullStr | Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis |
| title_full_unstemmed | Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis |
| title_short | Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis |
| title_sort | hypokinetic hypertrophic cardiomyopathy clinical phenotype genetics and prognosis |
| topic | Hypertrophic cardiomyopathy Heart failure Systolic dysfunction Genetics |
| url | https://doi.org/10.1002/ehf2.13914 |
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