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Hypertrophic Cardiomyopathy Overview.
Cirino AL, Ho C. Cirino AL, et al. 2008 Aug 5 [updated 2021 Jul 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Aug 5 [updated 2021 Jul 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301725 Free Books & Documents. Review.
Genetics of hypertrophic cardiomyopathy in Norway.
Berge KE, Leren TP. Berge KE, et al. Clin Genet. 2014 Oct;86(4):355-60. doi: 10.1111/cge.12286. Epub 2013 Oct 23. Clin Genet. 2014. PMID: 24111713
Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MYH7, TNNI3, TNNT2, MYL2 and MYL3 were analyzed in two groups of probands. ...
Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MY …
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Ingles J, et al. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. Circ Genom Precis Med. 2019. PMID: 30681346 Free PMC article.
Of 33 HCM genes, only 8 (24%) were categorized as definitive ( MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, and MYL3); 3 had moderate evidence ( CSRP3, TNNC1, and JPH2; 33%); and 22 (66%) had limited (n=16) or no evidence (n=6). ...
Of 33 HCM genes, only 8 (24%) were categorized as definitive ( MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, and MYL3); 3 had …
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Brugada J, Fernandez-Aviles F, Brugada R. Mademont-Soler I, et al. PLoS One. 2017 Aug 3;12(8):e0181465. doi: 10.1371/journal.pone.0181465. eCollection 2017. PLoS One. 2017. PMID: 28771489 Free PMC article.
METHODS: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent genes (MYBPC3, MYH7, TNNT2, TNNI3 and TPM1) using Sanger sequencing (N = 84) or NGS (N = 303). ...In the NGS cohort, 4 patients (1.3%) …
METHODS: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent ge …
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project. Richard P, et al. Circulation. 2003 May 6;107(17):2227-32. doi: 10.1161/01.CIR.0000066323.15244.54. Epub 2003 Apr 21. Circulation. 2003. PMID: 12707239
METHODS AND RESULTS: The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) were analyzed in 197 unrelated index cases with familial or sporadic hypertrophic cardiomyopathy. ...First, on the basis of this experience, th …
METHODS AND RESULTS: The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) wer …
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC, Pereira AC, Moon JC, Captur G, Ho CY. Topriceanu CC, et al. Circulation. 2024 Jan 9;149(2):107-123. doi: 10.1161/CIRCULATIONAHA.123.065987. Epub 2023 Nov 6. Circulation. 2024. PMID: 37929589 Free PMC article.
The penetrance across all genes in nonproband relatives carrying P/LP variants identified during cascade screening was 57% (95% CI, 52%-63%), and the mean age at HCM diagnosis was 38 years (95% CI, 36%-40%). Penetrance varied from 32% for MYL3 (myosin light chain 3) to 55% …
The penetrance across all genes in nonproband relatives carrying P/LP variants identified during cascade screening was 57% (95% CI, 52%-63%) …
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV. Patel AP, et al. JAMA Cardiol. 2022 Jul 1;7(7):723-732. doi: 10.1001/jamacardio.2022.0901. JAMA Cardiol. 2022. PMID: 35544052 Free PMC article.
MAIN OUTCOMES AND MEASURES: Pathogenicity of observed DNA sequence variants in sequenced exomes of 13 genes (ACTC1, FLNC, GLA, LMNA, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1, and TTN) associated with inherited cardiomyopathies were classified by a blinde …
MAIN OUTCOMES AND MEASURES: Pathogenicity of observed DNA sequence variants in sequenced exomes of 13 genes (ACTC1, FLNC, GLA, LMNA, MYBP …
Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review.
Shahzadi SK, Naidoo N, Alsheikh-Ali A, Rizzo M, Rizvi AA, Santos RD, Banerjee Y. Shahzadi SK, et al. Int J Mol Sci. 2021 Aug 29;22(17):9378. doi: 10.3390/ijms22179378. Int J Mol Sci. 2021. PMID: 34502285 Free PMC article. Review.
It is a genetically heterogeneous disease largely caused by variants of genes encoding for cardiac sarcomere proteins, including MYH7, MYBPC3, ACTC1, TPM1, MYL2, MYL3, TNNI3, and TNNT23. Preclinical evidence indicates that the enhanced calcium sensitivity of the myo …
It is a genetically heterogeneous disease largely caused by variants of genes encoding for cardiac sarcomere proteins, including MYH7, MY …
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
Ma N, Zhang JZ, Itzhaki I, Zhang SL, Chen H, Haddad F, Kitani T, Wilson KD, Tian L, Shrestha R, Wu H, Lam CK, Sayed N, Wu JC. Ma N, et al. Circulation. 2018 Dec 4;138(23):2666-2681. doi: 10.1161/CIRCULATIONAHA.117.032273. Circulation. 2018. PMID: 29914921 Free PMC article.
Furthermore, genome-edited homozygous VUS MYL3((170C>A))- and frameshift mutation MYL3((170C>A/fs))-iPSC-CMs lines were also asymptomatic, supporting a benign assessment for this particular MYL3 variant. Further assessment of the pathogenic nature of a …
Furthermore, genome-edited homozygous VUS MYL3((170C>A))- and frameshift mutation MYL3((170C>A/fs))-iPSC-CMs lines were …
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Oktay V, Tüfekçioğlu O, Yılmaz DÇ, Onrat E, Karabulut D, Çelik M, Balcıoğlu AS, Sucu MM, Özdemir G, Kaya H, Kış M, Güven B, Bağdatoğlu O, Turhan Çağlar FN, Yüksel UÇ, Düzen İV, Barutçu A, Şimşir ÖS, Başarıcı İ, Parspur A, Dalgıç O, Arıcan Özlük FÖ, Evlice M, Sağ S, Deniz MF, Öcal A, Gazi E, Şen T, Özdabakoğlu O, Bayar Çakıcı N, Bakır EO, Ülgen Kunak A, Çaylı G, Gül Taşdelen A, Akşit E, Uslu Çil Ş, Onay H. Oktay V, et al. Anatol J Cardiol. 2023 Nov 1;27(11):628-638. doi: 10.14744/AnatolJCardiol.2023.2805. Epub 2023 Jul 19. Anatol J Cardiol. 2023. PMID: 37466024 Free PMC article.
All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. ...
All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel inclu …
48 results