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Quoted phrase not found in phrase index: "Hypertrophic cardiomyopathy 21"
Page 1
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy.
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D. Ranjbarvaziri S, et al. Circulation. 2021 Nov 23;144(21):1714-1731. doi: 10.1161/CIRCULATIONAHA.121.053575. Epub 2021 Oct 21. Circulation. 2021. PMID: 34672721 Free PMC article.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a complex disease partly explained by the effects of individual gene variants on sarcomeric protein biomechanics. ...
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a complex disease partly explained by the effects of individual gene variants …
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. ...Two percent of diagnostic variants were in genes associated with a cardiomyopathy other than HCM or an inherited arrhythmia. Clinical variables …
BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. ...Two percent …
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
Lorenzini M, Norrish G, Field E, Ochoa JP, Cicerchia M, Akhtar MM, Syrris P, Lopes LR, Kaski JP, Elliott PM. Lorenzini M, et al. J Am Coll Cardiol. 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011. J Am Coll Cardiol. 2020. PMID: 32731933 Free PMC article.
BACKGROUND: Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on long-term outcomes in mutation carriers without HCM. ...
BACKGROUND: Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere p …
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W; Uk10k Consortium; Plagnol V, Elliott PM. Lopes LR, et al. J Med Genet. 2013 Apr;50(4):228-39. doi: 10.1136/jmedgenet-2012-101270. Epub 2013 Feb 8. J Med Genet. 2013. PMID: 23396983 Free PMC article.
The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted HTS methodology and workflow developed for patients with a range of inherited cardiovascular diseases. ...
The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy …
Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Choudhury L, Olivotto I, Saberi S, Wang A, Garcia-Pavia P, Lakdawala NK, Nagueh SF, Rader F, Tower-Rader A, Turer AT, Coats C, Fifer MA, Owens A, Solomon SD, Watkins H, Barriales-Villa R, Kramer CM, Wong TC, Paige SL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham T; REDWOOD-HCM Steering Committee and Investigators. Maron MS, et al. J Am Coll Cardiol. 2023 Jan 3;81(1):34-45. doi: 10.1016/j.jacc.2022.10.020. J Am Coll Cardiol. 2023. PMID: 36599608 Free article. Clinical Trial.
BACKGROUND: Left ventricular outflow tract (LVOT) obstruction is a major determinant of heart failure symptoms in obstructive hypertrophic cardiomyopathy (oHCM). Aficamten, a next-in-class cardiac myosin inhibitor, may lower gradients and improve symptoms in these p …
BACKGROUND: Left ventricular outflow tract (LVOT) obstruction is a major determinant of heart failure symptoms in obstructive hypertrophi …
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM. Thompson AD, et al. Genet Med. 2021 Jul;23(7):1281-1287. doi: 10.1038/s41436-021-01134-9. Epub 2021 Mar 29. Genet Med. 2021. PMID: 33782553 Free PMC article.
PURPOSE: Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. ...In silico saturation mutagenesis of M …
PURPOSE: Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, …
Evaluation of Hypertrophic Cardiomyopathy: Newer Echo and MRI Approaches.
Habib M, Hoss S, Rakowski H. Habib M, et al. Curr Cardiol Rep. 2019 Jun 26;21(8):75. doi: 10.1007/s11886-019-1173-1. Curr Cardiol Rep. 2019. PMID: 31243594 Review.
PURPOSE OF REVIEW: This review discusses the basic and evolving echocardiographic and cardiac magnetic resonance (CMR) approaches in the diagnosis and management of patients with hypertrophic cardiomyopathy (HCM). RECENT FINDINGS: Newer imaging technologies and tech …
PURPOSE OF REVIEW: This review discusses the basic and evolving echocardiographic and cardiac magnetic resonance (CMR) approaches in the dia …
Hypertrophic Cardiomyopathy and Ventricular Preexcitation in the Young: Cause and Accessory Pathway Characteristics.
Przybylski R, Saravu Vijayashankar S, O'Leary ET, Hylind RJ, Noon J, Dionne A, DeWitt ES, Bezzerides VJ, Abrams DJ. Przybylski R, et al. Circ Arrhythm Electrophysiol. 2023 Nov;16(11):e012191. doi: 10.1161/CIRCEP.123.012191. Epub 2023 Oct 25. Circ Arrhythm Electrophysiol. 2023. PMID: 37877314 Free article.
BACKGROUND: The cause of hypertrophic cardiomyopathy (HCM) in the young is highly varied. Ventricular preexcitation (preexcitation) is well recognized, yet little is known about the specificity for any cause and the characteristics of the responsible accessory pathw …
BACKGROUND: The cause of hypertrophic cardiomyopathy (HCM) in the young is highly varied. Ventricular preexcitation (preexcita …
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M, Walsh R, Afify A, Hosny M, Halawa S, Galal A, Fathy M, Theotokis PI, Boraey A, Ellithy A, Buchan R, Govind R, Whiffin N, Anwer S, ElGuindy A, Ware JS, Barton PJR, Yacoub M, Aguib Y. Allouba M, et al. Eur Heart J. 2023 Dec 21;44(48):5146-5158. doi: 10.1093/eurheartj/ehad372. Eur Heart J. 2023. PMID: 37431535 Free PMC article.
AIMS: Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity of genetic variants contributing to disease. ...
AIMS: Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity …
RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy.
Ribeiro M, Furtado M, Martins S, Carvalho T, Carmo-Fonseca M. Ribeiro M, et al. Int J Mol Sci. 2020 Feb 16;21(4):1329. doi: 10.3390/ijms21041329. Int J Mol Sci. 2020. PMID: 32079122 Free PMC article. Review.
Hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, is predominantly caused by mutations in genes that encode sarcomere-associated proteins. ...
Hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, is predominantly caused by mutations in genes that …
801 results