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dc.contributor.authorLorenzini, Massimiliano
dc.contributor.authorNorrish, Gabrielle
dc.contributor.authorField, Ella
dc.contributor.authorOchoa, Juan Pablo
dc.contributor.authorCicerchia, Marcos
dc.contributor.authorAkhtar, Mohammed M.
dc.contributor.authorSyrris, Petros
dc.contributor.authorLopes, Luis
dc.contributor.authorKaski, Juan Pablo
dc.contributor.authorElliot, Perry
dc.date.accessioned2020-09-18T09:49:56Z
dc.date.available2020-09-18T09:49:56Z
dc.date.issued2020-07-27
dc.identifier.citationLorenzini M, Norrish G, Field G, et al. Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers. J. Am. Coll. Cardiol. 2020; 76(5):550-559es_ES
dc.identifier.issn0735-1097
dc.identifier.issn1558-3597
dc.identifier.urihttp://hdl.handle.net/2183/26216
dc.description.abstract[Abstract] Background. Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on long-term outcomes in mutation carriers without HCM. Objectives. The aim of this study was to determine the incidence of new HCM diagnosis in SP mutation carriers. Methods. This was a retrospective analysis of adult and pediatric SP mutation carriers identified during family screening who did not fulfill diagnostic criteria for HCM at first evaluation. Results. The authors evaluated 285 individuals from 156 families (median age 14.2 years [interquartile range: 6.8 to 31.6 years], 141 [49.5%] male individuals); 145 (50.9%) underwent cardiac magnetic resonance (CMR). Frequency of causal genes was as follows: MYBPC3 n = 123 (43.2%), MYH7 n = 69 (24.2%), TNNI3 n = 39 (13.7%), TNNT2 n = 34 (11.9%), TPM1 n = 9 (3.2%), MYL2 n = 6 (2.1%), ACTC1 n = 1 (0.4%), multiple mutations n = 4 (1.4%). Median follow-up was 8.0 years (interquartile range: 4.0 to 13.3 years) and 86 (30.2%) patients developed HCM; 16 of 50 (32.0%) fulfilled diagnostic criteria on CMR but not echocardiography. Estimated HCM penetrance at 15 years of follow-up was 46% (95% confidence interval [CI]: 38% to 54%). In a multivariable model adjusted for age and stratified for CMR, independent predictors of HCM development were male sex (hazard ratio [HR]: 2.91; 95% CI: 1.82 to 4.65) and abnormal electrocardiogram (ECG) (HR: 4.02; 95% CI: 2.51 to 6.44); TNNI3 variants had the lowest risk (HR: 0.19; 95% CI: 0.07 to 0.55, compared to MYBPC3). Conclusions. Following a first negative screening, approximately 50% of SP mutation carriers develop HCM over 15 years of follow-up. Male sex and an abnormal ECG are associated with a higher risk of developing HCM. Regular CMR should be considered in long-term screening.es_ES
dc.language.isoenges_ES
dc.publisherElsevieres_ES
dc.relation.urihttps://doi.org/10.1016/j.jacc.2020.06.011es_ES
dc.rightsAtribución 4.0 Españaes_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/es/*
dc.subjectCardiac magnetic resonancees_ES
dc.subjectECGes_ES
dc.subjectEchocardiogrames_ES
dc.subjectSexes_ES
dc.subjectSudden cardiac deathes_ES
dc.titlePenetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carrierses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessinfo:eu-repo/semantics/openAccesses_ES
UDC.journalTitleJournal of the American College of Cardiologyes_ES
UDC.volume76es_ES
UDC.issue5es_ES
UDC.startPage550es_ES
UDC.endPage559es_ES


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