气候变化领域集成服务门户(CCPortal): Discordant clinical features of identical hypertrophic cardiomyopathy twins

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DOI	10.1073/pnas.2021717118
	Discordant clinical features of identical hypertrophic cardiomyopathy twins
	Repetti G.G.; Kim Y.; Pereira A.C.; Ingles J.; Russell M.W.; Lakdawala N.K.; Ho C.Y.; Day S.; Semsarian C.; McDonough B.; DePalma S.R.; Quiat D.; Green E.M.; Seidman C.E.; Seidman J.G.
发表日期	2021
ISSN	00278424
卷号	118 期号:10
英文摘要	Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle, which affects ∼1 in 500 individuals and is characterized by increased left ventricular wall thickness. While HCM is caused by pathogenic variants in any one of eight sarcomere protein genes, clinical expression varies considerably, even among patients with the same pathogenic variant. To determine whether background genetic variation or environmental factors drive these differences, we studied disease progression in 11 pairs of monozygotic HCM twins. The twin pairs were followed for 5 to 14 y, and left ventricular wall thickness, left atrial diameter, and left ventricular ejection fraction were collected from echocardiograms at various time points. All nine twin pairs with sarcomere protein gene variants and two with unknown disease etiologies had discordant morphologic features of the heart, demonstrating the influence of nonhereditable factors on clinical expression of HCM. Whole genome sequencing analysis of the six monozygotic twins with discordant HCM phenotypes did not reveal notable somatic genetic variants that might explain their clinical differences. Discordant cardiac morphology of identical twins highlights a significant role for epigenetics and environment in HCM disease progression. © 2021 National Academy of Sciences. All rights reserved.
英文关键词	Genetics; Hypertrophic cardiomyopathy; Identical twins
语种	英语
来源期刊	Proceedings of the National Academy of Sciences of the United States of America
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/180337
作者单位	Department of Genetics, Harvard Medical School, Boston, MA 02115, United States; Cardiovascular Division, Brigham and Women’s Hospital, Boston, MA 02115, United States; Heart Institute (InCor), University of Sao Paulo Medical School, Sao Paulo, 05508-060, Brazil; Department of Cardiology, Royal Prince Alfred Hospital, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, University of Sydney, Sydney, NSW 2006, Australia; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, MI 48109, United States; Division of Cardiovascular Medicine, Department of Medicine, Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States; Howard Hughes Medical Institute, Chevy Chase, MD 20815, United States; Department of Cardiology, Boston Children’s Hospital, Boston, MA 02115, United States; Maze Therapeut...
推荐引用方式 GB/T 7714	Repetti G.G.,Kim Y.,Pereira A.C.,et al. Discordant clinical features of identical hypertrophic cardiomyopathy twins[J],2021,118(10).
APA	Repetti G.G..,Kim Y..,Pereira A.C..,Ingles J..,Russell M.W..,...&Seidman J.G..(2021).Discordant clinical features of identical hypertrophic cardiomyopathy twins.Proceedings of the National Academy of Sciences of the United States of America,118(10).
MLA	Repetti G.G.,et al."Discordant clinical features of identical hypertrophic cardiomyopathy twins".Proceedings of the National Academy of Sciences of the United States of America 118.10(2021).