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Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers.

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Authors
Adalsteinsdottir, Berglind
Burke, Michael
Maron, Barry J
Danielsen, Ragnar
Lopez, Begoña
Diez, Javier
Jarolim, Petr
Seidman, Jonathan
Seidman, Christine E
Ho, Carolyn Y
Gunnarsson, Gunnar Th
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Issue Date
2020-04-05

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Adalsteinsdottir B, Burke M, Maron BJ, et al. Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers. Open Heart. 2020;7(1):e001220. Published 2020 Apr 5. doi:10.1136/openhrt-2019-001220
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.
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https://openheart.bmj.com/content/7/1/e001220.long
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174027/
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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.
ae974a485f413a2113503eed53cd6c53
10.1136/openhrt-2019-001220
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English Journal Articles (Peer Reviewed)

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