dc.contributor.author | Magri, Damianio | |
dc.contributor.author | Mastromarino, Vittoria | |
dc.contributor.author | Gallo, Giovanna | |
dc.contributor.author | Zachara, Elisabetta | |
dc.contributor.author | Re, Federica | |
dc.contributor.author | Piergiuseppe, Agostoni | |
dc.contributor.author | Giordano, Dario | |
dc.contributor.author | Rubattu, Speranza | |
dc.contributor.author | Forte, Maurizio | |
dc.contributor.author | Cotugno, Maria | |
dc.contributor.author | Torrisi, Maria Rosaria | |
dc.contributor.author | Petrucci, Simona | |
dc.contributor.author | Germani, Aldo | |
dc.contributor.author | Savio, Camilla | |
dc.contributor.author | Maruotti, Antonello | |
dc.contributor.author | Volpe, Massimo | |
dc.contributor.author | Autore, Camillo | |
dc.contributor.author | Piane, Maria | |
dc.contributor.author | Musumeci, Beatrice | |
dc.date.accessioned | 2021-08-05T07:48:44Z | |
dc.date.available | 2021-08-05T07:48:44Z | |
dc.date.created | 2020-12-13T21:38:28Z | |
dc.date.issued | 2020 | |
dc.identifier.issn | 2077-0383 | |
dc.identifier.uri | https://hdl.handle.net/11250/2766348 | |
dc.description.abstract | 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 MYBPC3 (myosin binding protein C), MYH7 (β-myosin heavy chain), TNNI3 (cardiac troponin I) and TNNT2 (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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | MDPI | en_US |
dc.rights | Navngivelse 4.0 Internasjonal | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/deed.no | * |
dc.title | Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing | en_US |
dc.type | Journal article | en_US |
dc.type | Peer reviewed | en_US |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Copyright 2020 The Authors | en_US |
dc.source.articlenumber | 1636 | en_US |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.doi | https://doi.org/10.3390/jcm9061636 | |
dc.identifier.cristin | 1859247 | |
dc.source.journal | Journal of Clinical Medicine | en_US |
dc.identifier.citation | Journal of Clinical Medicine. 2020, 9(6), 1636 | en_US |
dc.source.volume | 9 | en_US |
dc.source.issue | 6 | en_US |