Publication: Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3
Authors
Oliva Sandoval, María José ; Monserrat, Lorenzo ; Hermida Prieto, Manuel ; Sabater Molina, María ; García Molina, Esperanza ; Ortiz, Martín ; Rodríguez García, María Isabel ; Núñez, Lucía ; Gimeno, Juan Ramón ; Castro Beiras, Alfonso ; Valdés, Mariano ; Ruiz Espejo, Francisco
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Publisher
BMJ Publishing Group
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DOI
https://doi.org/10.1016/S1885-5857(10)70059-1
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info:eu-repo/semantics/article
Description
©2010. This manuscript version is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
This document is the Accepted, version of a Published Work that appeared in final form in Heart. To access the final edited and published work see https://doi.org/10.1136/hrt.2010.200402
Abstract
Background:
Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy (HCM). However, only a few studies have analysed genotype-phenotype correlations in small series of patients. The present study sought to determine the clinical characteristics, penetrance and prognosis of HCM with an identical mutation in MYBPC3.
Methods:
154 non-related patients with HCM (aged 55±16 years, 100 (64.9%) males) were studied. 18 (11.7%) were found to have an identical mutation in the MYBPC3 gene (IVS23+1G→A). Pedigree analysis, including both clinical evaluation and genotyping, was performed.
Results:
152 individuals (mean age 37±18 years, 53.3% males) from 18 families were evaluated. 65 carriers of the IVS23+1G→A mutation were identified, 61.5% of whom met HCM diagnostic criteria. Penetrance of the disease increased with age, with 50% affected at 46 years of age. Males tended to develop the disease earlier than females. 7 (15.6%) had systolic dysfunction. Compared with the rest of the HCM cohort, probands with the mutation had more hypertrophy and were younger at diagnosis. There was a trend towards a reduced survival free from sudden death (SD) (HR 1.71; 95% CI 0.98 to 2.98, p=0.059). There were 17 SD cases in 12 families with the mutation.
Conclusions:
The MYBPC3 IVS23+1G→A mutation is associated with middle-age onset disease and poor outcome, with a significant proportion of patients developing systolic impairment and a high SD risk profile
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Citation
Heart. 96(24) 2010: 1980-1984
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