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Hypertrophe cardiomyopathy

Lawrence M Wei, Dylan P Thibault, J Scott Rankin, Mohamad Alkhouli, Harold G Roberts, Sreekanth Vemulapalli, Babatunde Yerokun, Niv Ad, Hartzell V Schaff, Nicholas G Smedira, Hiroo Takayama, Patrick M McCarthy, Vinod H Thourani, Gorav Ailawadi, Jeffrey P Jacobs, Vinay Badhwar
BACKGROUND: The primary surgical therapy for hypertrophic cardiomyopathy (HCM) with obstruction is septal myectomy (SM). The current outcomes of SM with and without concomitant mitral operations in the United States was examined using The Society of Thoracic Surgeons (STS) database. METHODS: From July 2014 through June 2017, 4,274 SM operations were performed. Emergent status, endocarditis, aortic stenosis, and planned aortic valve operations were excluded. In the final cohort of 2,382 patients, 1,581 (66...
October 13, 2018: Annals of Thoracic Surgery
Thomas Eschenhagen, Lucie Carrier
Human-induced pluripotent stem cells (hiPSC) can be differentiated to cardiomyocytes at high efficiency and are increasingly used to study cardiac disease in a human context. This review evaluated 38 studies on hypertrophic (HCM) and dilated cardiomyopathy (DCM) of different genetic causes asking to which extent published data allow the definition of an in vitro HCM/DCM hiPSC-CM phenotype. The data are put in context with the prevailing hypotheses on HCM/DCM dysfunction and pathophysiology. Relatively consistent findings in HCM not reported in DCM were larger cell size (156 ± 85%, n = 15), more nuclear localization of nuclear factor of activated T cells (NFAT; 175 ± 65%, n = 3), and higher β-myosin heavy chain gene expression levels (500 ± 547%, n = 8) than respective controls...
October 15, 2018: Pflügers Archiv: European Journal of Physiology
Pei-Hsun Sung, Sarah Chua, Kuan-Hung Chen, Cheuk-Kwan Sun, Yi-Chen Li, Chi-Ruei Huang, Chi-Wen Luo, Han-Tan Chai, Hung-I Lu, Hon-Kan Yip
This study tested the hypothesis that extracellular matrix accumulation in tPA-/- /MMP-9-/- [double-knockout (DKO)] may be protective against left ventricular (LV) remodeling and dysfunction following transverse aortic constriction (TAC)-induced hypertrophic cardiomyopathy in mice. Wild-type C57BL/6 mice (n = 20) were equally categorized into sham-control (SC1 ) and TAC1 . Similarly, DKO mice (n = 20) were equally divided into two groups (i.e., SC2 and ATC2 ). By days 28/60 after TAC, LV ejection fraction (LVEF) was significantly higher in TAC2 than TAC1 , whereas LV end-systolic/diastolic dimensions displayed an opposite pattern to LVEF between the two groups (all P < 0...
2018: American Journal of Translational Research
Susan Lowey, Vera Bretton, Peteranne B Joel, Kathleen M Trybus, James Gulick, Jeffrey Robbins, Albert Kalganov, Anabelle S Cornachione, Dilson E Rassier
In 1990, the Seidmans showed that a single point mutation, R403Q, in the human β-myosin heavy chain (MHC) of heart muscle caused a particularly malignant form of familial hypertrophic cardiomyopathy (HCM) [Geisterfer-Lowrance AA, et al. (1990) Cell 62:999-1006.]. Since then, more than 300 mutations in the β-MHC have been reported, and yet there remains a poor understanding of how a single missense mutation in the MYH7 gene can lead to heart disease. Previous studies with a transgenic mouse model showed that the myosin phenotype depended on whether the mutation was in an α- or β-MHC backbone...
October 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
Leanne Jane Eveson, A Williams
We present the case of a 50-year-old, fit, asymptomatic gurkha officer. At a routine medical, an ECG showed T-wave inversion in the chest leads V3-6. Transthoracic echo showed left ventricular apical hypertrophy and cavity obliteration consistent with apical hypertrophic cardiomyopathy (ApHCM). Cardiac magnetic resonance imaging showed apical and inferior wall hypertrophy in the left ventricle with no aneurysm or scarring. A 24-hour monitor showed normal sinus rhythm with no evidence of non-sustained ventricular tachycardia...
October 12, 2018: Journal of the Royal Army Medical Corps
Mariana Mirabel, Thibaud Damy, Erwan Donal, Olivier Huttin, Fabien Labombarda, Jean-Christophe Eicher, Claudio Cervino, Marianna Laurito, Lucile Offredo, Muriel Tafflet, Xavier Jouven, Geltrude Giura, Michel Desnos, Xavier Jeunemaître, Jean-Philippe Empana, Philippe Charron, Gilbert Habib, Patricia Réant, Albert Hagège
BACKGROUND: Our knowledge of hypertrophic cardiomyopathy (HCM) mainly originates from quarternary centres. The objective is to assess the current management of HCM patients in a large multicentre French register according to the level of expertise. METHODS AND RESULTS: A total of 1431 HCM patients were recruited across 26 (11 expert and 15 non-expert) centres in REMY, a prospective hospital-based register of adult HCM patients. A sarcomeric origin was suspected in 1284 (89...
September 28, 2018: International Journal of Cardiology
Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Christopher Semsarian
Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. Induced pluripotent stem cells express pluripotency markers, demonstrate trilineage differentiation potential, and display a normal karyotype...
October 6, 2018: Stem Cell Research
Ke Han, Yan-Ping Li
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease and is an important cause of sudden death in patients of all ages. The aim of this study was to find out whether Toll-like receptor-4 (TLR4) polymorphism is associated with HCM. To explore the association between TLR4 gene polymorphisms and HCM, 486 HCM patients and 214 healthy controls were enrolled in a case-control study of Chinese Han population. Two single nucleotide polymorphisms (SNPs) in the promoter region of TLR4 gene, -728G > C (rs11536865) and -2081G > A (rs10983755), were genotyped by PCR restriction fragment length polymorphism (PCR-RFLP)...
October 2018: Kaohsiung Journal of Medical Sciences
Paul Sorajja, William T Katsiyiannis, Kevin M Harris
No abstract text is available yet for this article.
October 16, 2018: Journal of the American College of Cardiology
Liwen Liu, Jing Li, Lei Zuo, Jinzhou Zhang, Mengyao Zhou, Bo Xu, Rebeccca T Hahn, Martin B Leon, David H Hsi, Junbo Ge, Xiaodong Zhou, Jun Zhang, Shuping Ge, Lize Xiong
BACKGROUND: In patients with disabling symptoms caused by hypertrophic obstructive cardiomyopathy (HOCM), echocardiography-guided percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) could be a less invasive treatment option. OBJECTIVES: This study aimed to investigate the safety and efficacy of the PIMSRA for left ventricular outflow tract (LVOT) gradient reduction in HOCM. METHODS: The study enrolled 15 patients with HOCM...
October 16, 2018: Journal of the American College of Cardiology
Chiara Bencini, Giovanni Corrado, Claudia Borghi, Stefano Carugo
Left ventricular clefts (LVCs) are defined as deep, tight blood-filled invaginations within the ventricular myocardium localized predominantly in the basal posterior septum and LV-free wall. Usually, they are asymptomatic and incidentally discovered during diagnostic imaging procedures. LVC has been reported both in healthy volunteers and in patients affected with hypertrophic cardiomyopathy. Clinicians should be able to recognize LVC and to distinguish this entity from other myocardial wall defects with different pathological profile and clinical significance...
July 2018: Journal of Cardiovascular Echography
Hisanori Horiuchi
The von Willebrand factors (VWFs) play critical role in hemostasis and thrombosis formation. VWFs are produced in and secreted as large multimers from endothelial cells, and shear stress-dependently cleaved into 2-80 multimers by their specific protease, ADATS13. Because high molecular weight VWFs play important roles in platelet aggregation, the loss of high molecular weight VWFs caused by pathological high-shear stress induces a hemostatic disorder known as acquired von Willebrand syndrome (AVWS) type IIA...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Morten Kvistholm Jensen, Lothar Faber, Max Liebregts, Jaroslav Januska, Jan Krejci, Thomas Bartel, Robert M Cooper, Maciej Dabrowski, Peter Riis Hansen, Vibeke Marie Almaas, Hubert Seggewiss, Dieter Horstkotte, Radka Adlova, Jurriën Ten Berg, Henning Bundgaard, Josef Veselka
Aims: We analysed the impact of bundle branch block (BBB) and pacemaker (PM) implantation on symptoms and survival after alcohol septal ablation (ASA) in patients with hypertrophic cardiomyopathy (HCM). Methods and Results: Among 1416 HCM patients from the Euro-ASA registry 58 (4%) patients had a PM and 64 (5%) patients had an implantable cardioverter defibrillator (ICD) before ASA. At latest follow-up (5.0±4.0 years) after ASA, 118 (8%) patients had an ICD and 229 (16%) patients had a PM...
October 9, 2018: European Heart Journal. Quality of Care & Clinical Outcomes
Martijn F Hoes, Nils Bomer, Peter van der Meer
Until recently, in vivo and ex vivo experiments were the only means to determine factors and pathways involved in disease pathophysiology. After the generation of characterized human embryonic stem cell lines, human diseases could readily be studied in an extensively controllable setting. The introduction of human-induced pluripotent stem cells, a decade ago, allowed the investigation of hereditary diseases in vitro. In the field of cardiology, diseases linked to known genes have successfully been studied, revealing novel disease mechanisms...
October 9, 2018: Stem Cells Translational Medicine
Cristina Méndez, Rafaela Soler, Esther Rodríguez, Roberto Barriales, Juan Pablo Ochoa, Lorenzo Monserrat
OBJECTIVES: The purpose of this article is to describe the key cardiac magnetic resonance imaging (MRI) features to differentiate hypertrophic cardiomyopathy (HCM) phenotypes from other causes of myocardial thickening that may mimic them. CONCLUSIONS: Many causes of myocardial thickening may mimic different HCM phenotypes. The unique ability of cardiac MRI to facilitate tissue characterisation may help to establish the aetiology of myocardial thickening, which is essential to differentiate it from HCM phenotypes and for appropriate management...
October 9, 2018: Insights Into Imaging
Qianli Yang, Bo Wang, Jing Wang, Chao Sun, Zhiling Ma, Lei Zuo, Yanmin Zhang, Liwen Liu
OBJECTIVE: To explore the genotype-phenotype correlation of a MYH7-D554Y mutation identified in an ethnic Han Chinese pedigree affected with hypertrophic cardiomyopathy. METHODS: Ninety six cardiovascular disease-related genes were detected in the proband by exonic amplification and high-throughput sequencing. Suspected mutations were verified by Sanger sequencing among 300 healthy controls as well as family members of the proband. The pathogenicity and conservation of the detected mutations were analyzed with ClustalX, MutationTaster, PolyPhen-2, Provean and SIFT software...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Carolyn Y Ho, Sharlene M Day, Euan A Ashley, Michelle Michels, Alexandre C Pereira, Daniel Jacoby, Allison L Cirino, Jonathan C Fox, Neal K Lakdawala, James S Ware, Colleen A Caleshu, Adam S Helms, Steven D Colan, Francesca Girolami, Franco Cecchi, Christine E Seidman, Gautam Sajeev, James Signorovitch, Eric M Green, Iacopo Olivotto
Background: A better understanding of the factors that contribute to heterogeneous outcomes and lifetime disease burden in hypertrophic cardiomyopathy (HCM) is critically needed to improve patient management and outcomes. The Sarcomeric Human Cardiomyopathy Registry (SHaRe) was established to provide the scale of data required to address these issues, aggregating longitudinal datasets curated by eight international HCM specialty centers. Methods: Data on 4591 HCM patients (2763 genotyped), followed for a mean of 5...
October 2, 2018: Circulation
Maria Beatrice Musumeci, Domitilla Russo, Luca Rosario Limite, Marco Canepa, Giacomo Tini, Matteo Casenghi, Pietro Francia, Carmen Adduci, Erika Pagannone, Damiano Magrì, Massimo Volpe, Camillo Autore
In hypertrophic cardiomyopathy (HC), a process of left ventricular (LV) remodeling carrying an adverse prognosis has been described. Conversely, a gradual and benign LV wall thinning has been suggested but never investigated. Therefore, we studied a HC cohort over a long period of time to evaluate the occurrence of a LV remodeling with a benign clinical course. Data of HC patients aged 18 to 65years and without any condition known to influence LV remodeling were analyzed over a mean follow-up of 7.6 ± 5.7 years...
September 8, 2018: American Journal of Cardiology
Shoko Nakagawa, Atsushi Okada, Kunihiro Nishimura, Yasuhiro Hamatani, Masashi Amano, Hiroyuki Takahama, Makoto Amaki, Takuya Hasegawa, Hideaki Kanzaki, Kengo Kusano, Satoshi Yasuda, Chisato Izumi
Risk stratification for sudden cardiac death (SCD) is essential in the management of hypertrophic cardiomyopathy (HC). The 2014 European Society of Cardiology SCD risk prediction model (Risk-SCD) is a novel risk scoring system; however, whether it can be applied to Japanese HC and its usefulness among various HC phenotypes remain unclear. The aim of this study was to validate the Risk-SCD model in Japanese HC, and to evaluate its usefulness among various HC phenotypes. We studied 370 consecutive Japanese HC patients evaluated for primary SCD prevention at our tertiary referral center...
September 8, 2018: American Journal of Cardiology
Hannah G van Velzen, Arend F L Schinkel, Sara J Baart, Roy Huurman, Marjon A van Slegtenhorst, Isabella Kardys, Michelle Michels
Gender has been proposed to impact the phenotype and prognosis of hypertrophic cardiomyopathy (HC). Our aims were to study gender differences in the clinical presentation, phenotype, genotype, and outcome of HC. This retrospective single-center cohort study included 1,007 patients with HC (62% male, 80% genotyped) evaluated between 1977 and 2017. Hazard ratios (HR) were calculated using multivariable Cox proportional hazard regression models. At first evaluation, female patients presented more often with symptoms (43% vs 35%, p = 0...
September 8, 2018: American Journal of Cardiology
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