Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing
The role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype–phenotype correlation was performed to analyze possible differe...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-05-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/9/6/1636 |
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| author | Damiano Magrì Vittoria Mastromarino Giovanna Gallo Elisabetta Zachara Federica Re Piergiuseppe Agostoni Dario Giordano Speranza Rubattu Maurizio Forte Maria Cotugno Maria Rosaria Torrisi Simona Petrucci Aldo Germani Camilla Savio Antonello Maruotti Massimo Volpe Camillo Autore Maria Piane Beatrice Musumeci |
| author_facet | Damiano Magrì Vittoria Mastromarino Giovanna Gallo Elisabetta Zachara Federica Re Piergiuseppe Agostoni Dario Giordano Speranza Rubattu Maurizio Forte Maria Cotugno Maria Rosaria Torrisi Simona Petrucci Aldo Germani Camilla Savio Antonello Maruotti Massimo Volpe Camillo Autore Maria Piane Beatrice Musumeci |
| author_sort | Damiano Magrì |
| collection | DOAJ |
| description | The role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype–phenotype correlation was performed to analyze possible differences between patients with and without likely pathogenic/pathogenic (LP/P) variants. A total of 371 HCM patients were screened at least for the main sarcomeric genes <i>MYBPC3</i> (myosin binding protein C), <i>MYH7</i> (β-myosin heavy chain), <i>TNNI3</i> (cardiac troponin I) and <i>TNNT2</i> (cardiac troponin T): 203 patients had at least an LP/P variant, 23 patients had a unique variant of uncertain significance (VUS) and 145 did not show any LP/P variant or VUS. During a median 5.4 years follow-up, 51 and 14 patients developed heart failure (HF) and sudden cardiac death (SCD) or SCD-equivalents events, respectively. The LP/P variant was associated with a more aggressive HCM phenotype. However, left atrial diameter (LAd), circulatory power (peak oxygen uptake*peak systolic blood pressure, CP%) and ventilatory efficiency (C-index = 0.839) were the only independent predictors of HF whereas only LAd and CP% were predictors of the SCD end-point (C-index = 0.738). The present study reaffirms the pivotal role of the clinical variables and, particularly of those CPET-derived, in the HCM risk stratification. |
| first_indexed | 2024-03-10T19:31:39Z |
| format | Article |
| id | doaj.art-8be543f531e347b1a7884865f9736a8b |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T19:31:39Z |
| publishDate | 2020-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-8be543f531e347b1a7884865f9736a8b2023-11-20T02:04:13ZengMDPI AGJournal of Clinical Medicine2077-03832020-05-0196163610.3390/jcm9061636Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise TestingDamiano Magrì0Vittoria Mastromarino1Giovanna Gallo2Elisabetta Zachara3Federica Re4Piergiuseppe Agostoni5Dario Giordano6Speranza Rubattu7Maurizio Forte8Maria Cotugno9Maria Rosaria Torrisi10Simona Petrucci11Aldo Germani12Camilla Savio13Antonello Maruotti14Massimo Volpe15Camillo Autore16Maria Piane17Beatrice Musumeci18Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyCardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo—Forlanini Hospital, 00100 Rome, ItalyCardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo—Forlanini Hospital, 00100 Rome, ItalyCentro Cardiologico Monzino, IRCCS, 20100 Milan, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyIRCCS Neuromed, 86077 Pozzilli (IS), ItalyIRCCS Neuromed, 86077 Pozzilli (IS), ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyUOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, 00100 Rome, ItalyDepartment of Scienze Economiche, Politiche e delle Lingue Moderne—Libera Università SS Maria Assunta, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, ItalyThe role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype–phenotype correlation was performed to analyze possible differences between patients with and without likely pathogenic/pathogenic (LP/P) variants. A total of 371 HCM patients were screened at least for the main sarcomeric genes <i>MYBPC3</i> (myosin binding protein C), <i>MYH7</i> (β-myosin heavy chain), <i>TNNI3</i> (cardiac troponin I) and <i>TNNT2</i> (cardiac troponin T): 203 patients had at least an LP/P variant, 23 patients had a unique variant of uncertain significance (VUS) and 145 did not show any LP/P variant or VUS. During a median 5.4 years follow-up, 51 and 14 patients developed heart failure (HF) and sudden cardiac death (SCD) or SCD-equivalents events, respectively. The LP/P variant was associated with a more aggressive HCM phenotype. However, left atrial diameter (LAd), circulatory power (peak oxygen uptake*peak systolic blood pressure, CP%) and ventilatory efficiency (C-index = 0.839) were the only independent predictors of HF whereas only LAd and CP% were predictors of the SCD end-point (C-index = 0.738). The present study reaffirms the pivotal role of the clinical variables and, particularly of those CPET-derived, in the HCM risk stratification.https://www.mdpi.com/2077-0383/9/6/1636hypertrophic cardiomyopathycardiopulmonary exercise testgenetic testing |
| spellingShingle | Damiano Magrì Vittoria Mastromarino Giovanna Gallo Elisabetta Zachara Federica Re Piergiuseppe Agostoni Dario Giordano Speranza Rubattu Maurizio Forte Maria Cotugno Maria Rosaria Torrisi Simona Petrucci Aldo Germani Camilla Savio Antonello Maruotti Massimo Volpe Camillo Autore Maria Piane Beatrice Musumeci Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing Journal of Clinical Medicine hypertrophic cardiomyopathy cardiopulmonary exercise test genetic testing |
| title | Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing |
| title_full | Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing |
| title_fullStr | Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing |
| title_full_unstemmed | Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing |
| title_short | Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing |
| title_sort | risk stratification in hypertrophic cardiomyopathy insights from genetic analysis and cardiopulmonary exercise testing |
| topic | hypertrophic cardiomyopathy cardiopulmonary exercise test genetic testing |
| url | https://www.mdpi.com/2077-0383/9/6/1636 |
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