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Quoted phrase not found in phrase index: "Cardiomyopathy, familial hypertrophic, 26"
Page 1
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP; EORP Paediatric Cardiomyopathy Registry Investigators. Kaski JP, et al. Eur Heart J. 2024 Apr 21;45(16):1443-1454. doi: 10.1093/eurheartj/ehae109. Eur Heart J. 2024. PMID: 38427064
RESULTS: A total of 633 individuals aged 18 years with hypertrophic [HCM; n = 388 (61.3%)], dilated [DCM; n = 206 (32.5%)], restrictive [RCM; n = 28 (4.4%)], and arrhythmogenic right ventricular cardiomyopathy [ARVC; n = 11 (1.7%)] were enrolled by 23 referral centr …
RESULTS: A total of 633 individuals aged 18 years with hypertrophic [HCM; n = 388 (61.3%)], dilated [DCM; n = 206 (32.5%)], restricti …
Modern genomic techniques in the identification of genetic causes of cardiomyopathy.
Spracklen TF, Keavney B, Laing N, Ntusi N, Shaboodien G. Spracklen TF, et al. Heart. 2022 Nov 10;108(23):1843-1850. doi: 10.1136/heartjnl-2021-320424. Heart. 2022. PMID: 35140110 Review.
Next-generation sequencing (NGS) platforms have revolutionised clinical testing capacity in familial cardiomyopathy. In this review, we summarise how NGS technologies have advanced our understanding of genetic non-syndromic cardiomyopathy over the last decade …
Next-generation sequencing (NGS) platforms have revolutionised clinical testing capacity in familial cardiomyopathy. In this r …
Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy.
Ghosh N, Haddad H. Ghosh N, et al. Curr Opin Cardiol. 2011 Mar;26(2):155-64. doi: 10.1097/HCO.0b013e3283439797. Curr Opin Cardiol. 2011. PMID: 21297463 Review.
PURPOSE OF REVIEW: This review will provide an overview of the genetic basis of cardiomyopathy with an emphasis on the clinically relevant breakthroughs that have occurred recently and their role in the evaluation of patients with cardiomyopathy. RECENT FINDINGS: Re …
PURPOSE OF REVIEW: This review will provide an overview of the genetic basis of cardiomyopathy with an emphasis on the clinically rel …
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Hughes RK, Camaioni C, Augusto JB, Knott K, Quinn E, Captur G, Seraphim A, Joy G, Syrris P, Elliott PM, Mohiddin S, Kellman P, Xue H, Lopes LR, Moon JC. Hughes RK, et al. J Am Heart Assoc. 2021 Aug 3;10(15):e020227. doi: 10.1161/JAHA.120.020227. Epub 2021 Jul 27. J Am Heart Assoc. 2021. PMID: 34310159 Free PMC article.
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments. ...Indiv …
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiom …
Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy.
Zhang L, Zhang Y, Wang J, Ta S, Zhao J, Yao L, Han C, Liu J, Zhao X, Yuan J, Li R, Shan B, Wang Y, Qin Y, Wang B, Liu L. Zhang L, et al. Curr Probl Cardiol. 2024 Jan;49(1 Pt C):102164. doi: 10.1016/j.cpcardiol.2023.102164. Epub 2023 Oct 30. Curr Probl Cardiol. 2024. PMID: 37907184 Review.
Hypertrophic cardiomyopathy (HCM) represents one of the most common inherited cardiac conditions, and more than 50 % have a tendency of familial aggregation. ...This study collected 1023 unrelated HCM probands, conducted Sanger sequencing on whom carrying MYH …
Hypertrophic cardiomyopathy (HCM) represents one of the most common inherited cardiac conditions, and more than 50 % have a te …
Molecular characterization of Portuguese patients with dilated cardiomyopathy.
Sousa A, Canedo P, Azevedo O, Lopes L, Pinho T, Baixia M, Rocha-Gonçalves F, Gonçalves L, Cardoso JS, Machado JC, Martins E; FATIMA investigators. Sousa A, et al. Rev Port Cardiol (Engl Ed). 2019 Feb;38(2):129-139. doi: 10.1016/j.repc.2018.10.010. Epub 2019 Mar 11. Rev Port Cardiol (Engl Ed). 2019. PMID: 30871747 Free article. English, Portuguese.
RESULTS: A total of 107 patients were included, 64 (60%) men, mean age at diagnosis 3813 years, with 48 (45%) familial cases. In total, 31 rare variants in eight genes (mainly in MYBPC3, TNNT2 and LMNA) were identified, in 28 patients (26%). Only four variants had b …
RESULTS: A total of 107 patients were included, 64 (60%) men, mean age at diagnosis 3813 years, with 48 (45%) familial cases. In tota …
Exercise-induced pulmonary hypertension in hypertrophic cardiomyopathy: a combined cardiopulmonary exercise test-echocardiographic study.
Re F, Halasz G, Moroni F, Beltrami M, Baratta P, Avella A, Zachara E, Olivotto I. Re F, et al. Int J Cardiovasc Imaging. 2022 Nov;38(11):2345-2352. doi: 10.1007/s10554-022-02671-3. Epub 2022 Jun 28. Int J Cardiovasc Imaging. 2022. PMID: 36434342
Pulmonary arterial hypertension (PAH), documented in a significant portion of hypertrophic cardiomyopathy (HCM) patients, has been shown to adversely impact prognosis. ...Kaplan-Meier curve analysis showed EiPAH was a significant predictor of HCM-related morbidity ( …
Pulmonary arterial hypertension (PAH), documented in a significant portion of hypertrophic cardiomyopathy (HCM) patients, has …
Molecular genetics of familial hypertrophic cardiomyopathy.
Hengstenberg C, Schwartz K. Hengstenberg C, et al. J Mol Cell Cardiol. 1994 Jan;26(1):3-10. doi: 10.1006/jmcc.1994.1002. J Mol Cell Cardiol. 1994. PMID: 8196066 Review.
Familial Hypertrophic Cardiomyopathy is the first inherited primary cardiomyopathy for which genetic studies have been conducted. ...
Familial Hypertrophic Cardiomyopathy is the first inherited primary cardiomyopathy for which genetic studies hav …
Clinical characteristics of hypertrophic cardiomyopathy in children: An 8-year single center experience.
Tunca Sahin G, Ozgur S, Kafali HC, Sevinc Sengul F, Haydin S, Guzeltas A, Ergul Y. Tunca Sahin G, et al. Pediatr Int. 2021 Jan;63(1):37-45. doi: 10.1111/ped.14393. Epub 2020 Dec 5. Pediatr Int. 2021. PMID: 32682351
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the second most common pediatric cardiomyopathy. ...It is important to determine the timing of surgery and potential risks for sudden cardiac arrest. As most cases of HCM are familial, evaluation of fami …
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the second most common pediatric cardiomyopathy. ...It is important to …
Awareness of Fabry disease in cardiology: A gap to be filled.
Brito D, Cardim N, Lopes LR, Belo A, Mimoso J, Gonçalves L, Madeira H; Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM) Investigators. Brito D, et al. Rev Port Cardiol (Engl Ed). 2018 Jun;37(6):457-466. doi: 10.1016/j.repc.2018.03.010. Epub 2018 May 22. Rev Port Cardiol (Engl Ed). 2018. PMID: 29801713 Free article. English, Portuguese.
INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to …
INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HC …
50 results