Full metadata record
DC Field | Value | Language |
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dc.creator | Adalsteinsdottir, B. (Berglind) | - |
dc.creator | Burke, M. (Michael) | - |
dc.creator | Maron, B.J. (Barry J.) | - |
dc.creator | Danielsen, R. (Ragnar) | - |
dc.creator | López, B. (Begoña) | - |
dc.creator | Diez, J. (Javier) | - |
dc.creator | Jarolim, P. (Petr) | - |
dc.creator | Seidman, J.G. (J.G.) | - |
dc.creator | Seidman, C.E. (Christine E.) | - |
dc.creator | Ho, C.Y. (Carolyn Y.) | - |
dc.creator | Gunnarsson, G.T. (Gunnar Th) | - |
dc.date.accessioned | 2023-01-30T09:15:28Z | - |
dc.date.available | 2023-01-30T09:15:28Z | - |
dc.date.issued | 2020 | - |
dc.identifier.citation | Adalsteinsdottir, B. (Berglind); Burke, M. (Michael); Maron, B.J. (Barry J.); et al. "Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers". Open Heart. 7(1), 2020, e001220 | es_ES |
dc.identifier.issn | 2053-3624 | - |
dc.identifier.uri | https://hdl.handle.net/10171/65191 | - |
dc.description.abstract | Objective: The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among carriers of this single, prevalent founder mutation. Methods: We studied 60 probands with HCM caused by MYBPC3 c.927-2A>G and 225 first-degree relatives. All participants underwent comprehensive clinical evaluation and relatives were genotyped. Results: Genetic and clinical evaluation of relatives identified 49 genotype-positive (G+) relatives with left ventricular hypertrophy (G+/LVH+), 59 G+without LVH (G+/LVH−) and 117 genotype-negative relatives (unaffected). Compared with HCM probands, G+/ LVH+ relatives were older at HCM diagnosis, had less LVH, a less prevalent diastolic dysfunction, fewer ECG abnormalities, lower serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin I levels, and fewer symptoms. The penetrance of HCM was influenced by age and sex; specifically, LVH was present in 39% of G+males but only 9% of G+females under age 40 years (p=0.015), versus 86% and 83%, respectively, after age 60 (p=0.89). G+/LVH− subjects had normal wall thicknesses, diastolic function and NT-proBNP levels, but subtle changes in LV geometry and more ECG abnormalities than their unaffected relatives. Conclusions: Phenotypic expression of the Icelandic MYBPC3 founder mutation varies by age, sex and proband status. Men are more likely to have LVH at a younger age, and disease manifestations were more prominent in probands than in relatives identified via family screening. G+/LVH− individuals had subtle clinical differences from unaffected relatives well into adulthood, indicating subclinical phenotypic expression of the pathogenic mutation. | es_ES |
dc.description.sponsorship | This study was supported by the Howard Hughes Medical Institute (CES), the National Institutes of Health (5HL084553: CES, JGS; 1P20HL101408: CYH; 1P50HL112349: CYH), Akureyri Hospital Research Fund (GTG), Landspitali–The National University Hospital of Iceland Research Fund (BA), the Icelandic Cardiac Society Research Fund (GTG). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | British Medical Journals | es_ES |
dc.relation | 5HL084553: CES, JGS | es_ES |
dc.relation | 1P20HL101408: CYH | es_ES |
dc.relation | 1P50HL112349: CYH | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.subject | Cardiomyopathy hypertrophic | es_ES |
dc.subject | Iceland | es_ES |
dc.subject | Myosin-binding protein C (MYBPC3) | es_ES |
dc.subject | Echocardiography | es_ES |
dc.subject | Genetics | es_ES |
dc.title | Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.description.note | This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) | es_ES |
dc.identifier.doi | 10.1136/openhrt-2019-001220 | - |
dadun.citation.number | 1 | es_ES |
dadun.citation.publicationName | Open Heart | es_ES |
dadun.citation.startingPage | e001220 | es_ES |
dadun.citation.volume | 7 | es_ES |
dc.identifier.pmid | 32341788 | - |
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