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105 results

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Page 1
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Alfares AA, et al. Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22. Genet Med. 2015. PMID: 25611685 Free article.
PURPOSE: Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in genes encoding sarcomere proteins. ...An expanded gene panel encompassing more than 50 genes identified only a very small number of additional pathogenic variants beyond those i …
PURPOSE: Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in genes encoding sarcomere proteins. .. …
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.
Robyns T, Breckpot J, Nuyens D, Vandenberk B, Corveleyn A, Kuiperi C, Van Aelst L, Van Cleemput J, Willems R. Robyns T, et al. Eur J Med Genet. 2020 Mar;63(3):103754. doi: 10.1016/j.ejmg.2019.103754. Epub 2019 Sep 9. Eur J Med Genet. 2020. PMID: 31513939
Knowledge on the influence of specific genotypes on the phenotypic expression of hypertrophic cardiomyopathy (HCM) is emerging. The objective of this study was to evaluate the genotype-phenotype relation in HCM patients and to construct a score to predict the geneti …
Knowledge on the influence of specific genotypes on the phenotypic expression of hypertrophic cardiomyopathy (HCM) is emerging …
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1. Am J Hum Genet. 2002. PMID: 11992261 Free PMC article.
Mutations were found in 54 of 119 (45%) unrelated individuals with sporadic or familial NS. There was a significantly higher prevalence of mutations among familial cases than among sporadic ones. ...Genotype-phenotype analysis revealed that pulmonic stenosis was mor …
Mutations were found in 54 of 119 (45%) unrelated individuals with sporadic or familial NS. There was a significantly higher prevalen …
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP. Curran L, et al. Circ Genom Precis Med. 2023 Dec;16(6):e004200. doi: 10.1161/CIRCGEN.123.004200. Epub 2023 Nov 28. Circ Genom Precis Med. 2023. PMID: 38014537 Free PMC article.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. ...Four main phenotypic branches were …
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phen …
Familial Hypertrophic Cardiomyopathy: Diagnosis and Management.
Litt MJ, Ali A, Reza N. Litt MJ, et al. Vasc Health Risk Manag. 2023 Apr 6;19:211-221. doi: 10.2147/VHRM.S365001. eCollection 2023. Vasc Health Risk Manag. 2023. PMID: 37050929 Free PMC article. Review.
Hypertrophic cardiomyopathy (HCM) is widely recognized as one of the most common inheritable cardiac disorders. ...This, along with increased safety and efficacy of medical, percutaneous, and surgical therapies for HCM, has afforded more personalized care …
Hypertrophic cardiomyopathy (HCM) is widely recognized as one of the most common inheritable cardiac disorders. ...This, along …
Management of hypertrophic cardiomyopathy.
Enriquez AD, Goldman ME. Enriquez AD, et al. Ann Glob Health. 2014 Jan-Feb;80(1):35-45. doi: 10.1016/j.aogh.2013.12.004. Epub 2013 Dec 25. Ann Glob Health. 2014. PMID: 24751563 Free article. Review.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is clinically defined as unexplained myocardial hypertrophy, and it is an autosomal dominant disease of the cardiac sarcomere. ...Medical therapy targeted at the underlying pathophysiology should be used, and surg …
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is clinically defined as unexplained myocardial hypertrophy, and it is an autoso …
Genetic Testing in Inherited Heart Diseases.
Ingles J, Macciocca I, Morales A, Thomson K. Ingles J, et al. Heart Lung Circ. 2020 Apr;29(4):505-511. doi: 10.1016/j.hlc.2019.10.014. Epub 2019 Nov 29. Heart Lung Circ. 2020. PMID: 31813745 Review.
Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familial hypercholesterolaemia (FH), to the comparatively less common inherited arrhythmia syndromes, such as long QT syndrome (LQTS), catechol …
Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familia …
Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.
García-Hernandez S, Iglesias LM. García-Hernandez S, et al. Curr Cardiol Rep. 2022 Nov;24(11):1537-1546. doi: 10.1007/s11886-022-01772-8. Epub 2022 Aug 22. Curr Cardiol Rep. 2022. PMID: 35994197 Review.
PURPOSE OF REVIEW: Dilated cardiomyopathy (DCM) is one of the most prevalent primary cardiomyopathies and may be caused by genetic and non-genetic etiologies. ...Nowadays, there are many promising targeting-gene therapies in different developing phases....
PURPOSE OF REVIEW: Dilated cardiomyopathy (DCM) is one of the most prevalent primary cardiomyopathies and may be caused by gen …
Medical Treatment Strategies for Hypertrophic Cardiomyopathy.
Hutt E, Desai MY. Hutt E, et al. Am J Cardiol. 2024 Feb 1;212S:S33-S41. doi: 10.1016/j.amjcard.2023.10.074. Epub 2024 Jan 29. Am J Cardiol. 2024. PMID: 38368034 Free article. Review.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic heart disease inherited in an autosomal dominant pattern with an estimated prevalence of 0.6% in the general population. ...Current management options for HCM include lifestyle modifications, familial …
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic heart disease inherited in an autosomal dominant pattern with an …
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy.
Chiswell K, Zaininger L, Semsarian C. Chiswell K, et al. Prog Cardiovasc Dis. 2023 Sep-Oct;80:38-45. doi: 10.1016/j.pcad.2023.04.009. Epub 2023 May 1. Prog Cardiovasc Dis. 2023. PMID: 37137376 Review.
Studies over the last 30 years have identified hypertrophic cardiomyopathy (HCM) as predominantly an autosomal dominant disorder caused by disease-causing variants in genes encoding the sarcomere proteins critical for contractile function. ...Most recently, novel in …
Studies over the last 30 years have identified hypertrophic cardiomyopathy (HCM) as predominantly an autosomal dominant disord …
105 results