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Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

Authors :
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
Source :
Journal of Clinical Medicine, Vol 9, Iss 6, p 1636 (2020)
Publication Year :
2020
Publisher :
MDPI AG, 2020.

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.

Details

Language :
English
ISSN :
20770383
Volume :
9
Issue :
6
Database :
Directory of Open Access Journals
Journal :
Journal of Clinical Medicine
Publication Type :
Academic Journal
Accession number :
edsdoj.8be543f531e347b1a7884865f9736a8b
Document Type :
article
Full Text :
https://doi.org/10.3390/jcm9061636