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https://www.readbyqxmd.com/read/29457878/genetic-determinants-of-heart-failure-facts-and-numbers
#1
EDITORIAL
Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing...
February 19, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29457264/comparison-of-left-atrial-size-and-function-in-hypertrophic-cardiomyopathy-and-in-fabry-disease-with-left-ventricular-hypertrophy
#2
María Cristina Saccheri, Tomás Francisco Cianciulli, Wilde Challapa Licidio, Jorge A Lax, Martín A Beck, Luis A Morita, Juan A Gagliardi
BACKGROUND: Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) are two diseases with a different pathophysiology, both cause left ventricular hypertrophy (LVH) and myocardial fibrosis. Although remodeling and systolic dysfunction of the left atrium (LA) are associated with atrial fibrillation and stroke in HCM, changes in the size and function of the LA have not been well studied in FD with LVH. METHODS: The following groups were studied prospectively, and their respective findings compared: 19 patients with non-obstructive HCM (Group I), 20 patients with a diagnosis of Fabry cardiomyopathy (Group II), and 20 normal subjects matched for sex and age (Group III)...
February 19, 2018: Echocardiography
https://www.readbyqxmd.com/read/29456606/sudden-cardiac-arrest-in-hypertrophic-cardiomyopathy-with-dynamic-cavity-obstruction-the-case-for-a-decatecholaminisation-strategy
#3
Cosmin Balan, Adrian View-Kim Wong
Catecholamines are entrenched in the management of shock states. A paradigm shift has pervaded the critical care arena in recent years acknowledging their propensity to cause harm and fuel a 'death-spiral'. We present the case of a 21-year-old male following a witnessed out-of-hospital cardiac arrest who received high-quality cardiopulmonary resuscitation and standard advanced life support for refractory ventricular fibrillation until return of spontaneous circulation after 70 min. Early post-admission echocardiography revealed severe diffuse sub-basal left ventricular hypertrophy with dynamic mid-cavity obstruction and akinetic apical pouching...
February 2018: Journal of the Intensive Care Society
https://www.readbyqxmd.com/read/29456182/mitochondrial-dysfunctions-contribute-to-hypertrophic-cardiomyopathy-in-patient-ipsc-derived-cardiomyocytes-with-mt-rnr2-mutation
#4
Shishi Li, Huaye Pan, Chao Tan, Yaping Sun, Yanrui Song, Xuan Zhang, Wei Yang, Xuexiang Wang, Dan Li, Yu Dai, Qiang Ma, Chenming Xu, Xufen Zhu, Lijun Kang, Yong Fu, Xuejun Xu, Jing Shu, Naiming Zhou, Feng Han, Dajiang Qin, Wendong Huang, Zhong Liu, Qingfeng Yan
Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death in young individuals. A potential role of mtDNA mutations in HCM is known. However, the underlying molecular mechanisms linking mtDNA mutations to HCM remain poorly understood due to lack of cell and animal models. Here, we generated induced pluripotent stem cell-derived cardiomyocytes (HCM-iPSC-CMs) from human patients in a maternally inherited HCM family who carry the m.2336T>C mutation in the mitochondrial 16S rRNA gene (MT-RNR2)...
February 13, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29455792/left-ventricular-structure-and-diastolic-function-by-cardiac-magnetic-resonance-imaging-in-hypertrophic-cardiomyopathy
#5
Binita Riya Chacko, Gauri R Karur, Kim A Connelly, Raymond T Yan, Anish Kirpalani, Rachel Wald, Laura Jimenez-Juan, John Roshan Jacob, Djeven P Deva, Andrew T Yan
OBJECTIVE: Diastolic dysfunction is common in hypertrophic cardiomyopathy (HCM) and hypertensive heart disease (HHD), but its relationships with left ventricular (LV) parameters have not been well studied. Our objective was to assess the relationship of various measures of diastolic function, and maximum left ventricular wall thickness (MLVWT) and left ventricular mass index (LVMI) in HCM, HHD and normal controls using cardiac magnetic resonance imaging (CMR). We also assessed LV parameters and diastolic function in relation to late gadolinium enhancement (LGE) and right ventricular (RV) hypertrophy in HCM...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29455155/newly-designed-11-gene-panel-reveals-first-case-of-hereditary-amyloidosis-captured-by-massive-parallel-sequencing
#6
Zuzana Chyra Kufova, Tereza Sevcikova, Jaroslav Januska, Petr Vojta, Arpad Boday, Pavla Vanickova, Jana Filipova, Katerina Growkova, Tomas Jelinek, Marian Hajduch, Roman Hajek
AIMS: Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary amyloidosis represents a monogenic disease caused by germline mutations in 11 amyloidogenic precursor protein genes. One of the important but non-specific symptoms of amyloidosis is hypertrophic cardiomyopathy. Diagnostics of hereditary amyloidosis is complicated and the real cause can remain overlooked. We aimed to design hereditary amyloidosis gene panel and to introduce new next-generation sequencing (NGS) approach to investigate hereditary amyloidosis in a cohort of patients with hypertrophic cardiomyopathy of unknown significance...
February 17, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29453593/risk-marker-profiles-in-patients-treated-with-percutaneous-septal-ablation-for-symptomatic-hypertrophic-obstructive-cardiomyopathy
#7
Amelie Burghardt, Frank van Buuren, Zisis Dimitriadis, Tim Grübbel, Hubert Seggewiss, Smita Scholtz, Dieter Horstkotte, Lothar Faber
BACKGROUND AND STUDY OBJECTIVE: Different studies have shown a good long-term survival with improvement of symptoms and hemodynamics after percutaneous septal ablation (PTSMA), similar to myectomy considered to be the therapeutic "gold standard" for symptomatic hypertrophic obstructive cardiomyopathy (HOCM). Furthermore, desobliteration of left ventricular (LV) outflow may modify features of the disease considered to be risk-relevant, such as magnitude of LV hypertrophy, outflow gradient, and left atrial (LA) size...
February 16, 2018: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/29453001/transmitral-septal-myectomy-for-hypertrophic-obstructive-cardiomyopathy
#8
Brody Wehman, Mehrdad Ghoreishi, Nathaniel Foster, Libin Wang, Michael N D'Ambra, Nathan Maassel, Sam Maghami, Rachael Quinn, Murtaza Dawood, Stacy Fisher, James S Gammie
BACKGROUND: Intrinsic abnormalities of the mitral valve are common in patients with hypertrophic cardiomyopathy and may need to be addressed at operation. METHODS: Consecutive patients undergoing transmitral septal myectomy were retrospectively reviewed. The ventricular septum was exposed through a left atriotomy, and the anterior leaflet of the mitral valve was detached from its annulus. An extended myectomy was performed to the base of the papillary muscles. After myectomy, the anterior leaflet was reattached and concomitant mitral valve repair or replacement was performed...
February 13, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29452394/treatment-of-hypertrophic-cardiomyopathy-caused-by-cardiospecific-variants-of-fabry-disease-with-chaperone-therapy
#9
Jonas Müntze, Tim Salinger, Daniel Gensler, Christoph Wanner, Peter Nordbeck
No abstract text is available yet for this article.
February 14, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29452157/hypertrophic-cardiomyopathy-mutation-r58q-in-the-myosin-regulatory-light-chain-perturbs-thick-filament-based-regulation-in-cardiac-muscle
#10
Thomas Kampourakis, Saraswathi Ponnam, Malcolm Irving
Hypertrophic cardiomyopathy (HCM) is frequently linked to mutations in the protein components of the myosin-containing thick filaments leading to contractile dysfunction and ultimately heart failure. However, the molecular structure-function relationships that underlie these pathological effects remain largely obscure. Here we chose an example mutation (R58Q) in the myosin regulatory light chain (RLC) that is associated with a severe HCM phenotype and combined the results from a wide range of in vitro and in situ structural and functional studies on isolated protein components, myofibrils and ventricular trabeculae to create an extensive map of structure-function relationships...
February 13, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29451820/the-hcm-linked-w792r-mutation-in-cardiac-myosin-binding-protein-c-reduces-c6-fniii-domain-stability
#11
Dan F Smelter, Willem J De Lange, Wenxuan Cai, Ying Ge, John C Ralphe
Cardiac myosin binding protein-C (cMyBP-C) is a functional sarcomeric protein that regulates contractility in response to contractile demand, and many mutations in cMyBP-C lead to hypertrophic cardiomyopathy (HCM). To gain insight into the effects of disease-causing cMyBP-C missense mutations on contractile function, we expressed the pathogenic W792R mutation in mouse cardiomyocytes lacking endogenous cMyBP-C and studied the functional effects using three-dimensional engineered cardiac tissue (mECT) constructs...
February 16, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29450893/dofetilide-for-suppression-of-atrial-fibrillation-in-hypertrophic-cardiomyopathy-a-case-series-and-literature-review
#12
JoEllyn C Moore, Lena Trager, Lucille E Anzia, Walid Saliba, Mohamed Bassiouny, Mandeep Bhargava, Mina Chung, Milind Desai, Ross Garberich, Harry Lever, Bruce D Lindsay, Jay Sengupta, Patrick Tchou, Oussama Wazni, Bruce L Wilkoff
BACKGROUND: Limited medical options are available for rhythm control in patients with atrial fibrillation (AF) and hypertrophic cardiomyopathy (HCM). There are no published reports of dofetilide use in this population. METHODS: A retrospective chart review was conducted on1,404 patients loaded on dofetilide for AF suppression at the Cleveland Clinic from 2008-2012, 25 of whom were found to have HCM. RESULTS: The HCM cohort was 32% female, 76% with persistent AF, mean age of 59 ± 10 years and mean ejection fraction (EF) of 54 ± 9 %...
February 16, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29450766/septal-myectomy-for-hypertrophic-cardiomyopathy-important-surgical-knowledge-and-technical-tips-in-the-era-of-increasing-alcohol-septal-ablation
#13
REVIEW
Yuting P Chiang, Yuichi J Shimada, Jonathan Ginns, Shepard D Weiner, Hiroo Takayama
Hypertrophic cardiomyopathy (HCM) is the most commonly inherited cardiac disease-recent studies suggest a prevalence as high as 1 in 200. For symptomatic patients with obstructive HCM who are refractory to medical therapy, septal reduction is indicated. Septal myectomy (SM) is considered the gold standard septal reduction technique. However, due to a shortage of surgeons who are experienced in this technique, alcohol septal ablation (ASA) has overtaken SM as the most commonly performed procedure for obstructive HCM...
February 15, 2018: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29449957/early-detection-of-myocardial-dysfunction-using-two-dimensional-speckle-tracking-echocardiography-in-a-young-cat-with-hypertrophic-cardiomyopathy
#14
Ryohei Suzuki, Yohei Mochizuki, Hiroki Yoshimatsu, Ayaka Niina, Takahiro Teshima, Hirotaka Matsumoto, Hidekazu Koyama
Case summary: A 5-month-old intact female Scottish Fold cat was presented for cardiac evaluation. Careful auscultation detected a slight systolic murmur (Levine I/VI). The findings of electrocardiography, thoracic radiography, non-invasive blood pressure measurements and conventional echocardiographic studies were unremarkable. However, two-dimensional speckle tracking echocardiography revealed abnormalities in myocardial deformations, including decreased early-to-late diastolic strain rate ratios in longitudinal, radial and circumferential directions, and deteriorated segmental systolic longitudinal strain...
January 2018: JFMS Open Reports
https://www.readbyqxmd.com/read/29444294/prognosis-of-adult-obstructive-hypertrophic-cardiomyopathy-patients-with-different-morphological-types-after-surgical-myectomy
#15
Bing Tang, Yunhu Song, Hao Cui, Keshan Ji, Qinjun Yu, Changsheng Zhu, Shihua Zhao, Shuiyun Wang
OBJECTIVES: This study aims to assess the impact of morphological type on the prognosis of obstructive hypertrophic cardiomyopathy patients who underwent myectomy. METHODS: We recruited 469 obstructive hypertrophic cardiomyopathy patients refractory to medicinal treatment who have undergone surgical myectomy at a nationwide referral centre. All patients were divided into 3 groups based on the morphological classification of left ventricular hypertrophy and were followed up by telephone every year...
February 12, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29440459/mir-139-5p-inhibits-isoproterenol-induced-cardiac-hypertrophy-by-targeting-c-jun
#16
Su Ming, Wang Shui-Yun, Qiu Wei, Li Jian-Hui, Hui Ru-Tai, Song Lei, Jia Mei, Wang Hui, Wang Ji-Zheng
Hypertrophic cardiomyopathy (HCM) is a serious monogenic disease characterized by cardiac hypertrophy, fibrosis, sudden cardiac death and heart failure. Previously, we identified that miR-139-5p was downregulated in HCM patients. However, the regulatory effects of miR-139-5p remain unclear. Thus, we investigated the role of miR-139-5p in the regulation of cardiac hypertrophy. The expression of miR-139-5p in left ventricular tissues in HCM patients and mice subjected to transverse aortic constriction (TAC) was significantly downregulated...
February 12, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29440008/novel-%C3%AE-actin-gene-mutation-p-ala21val-causing-familial-hypertrophic-cardiomyopathy-myocardial-noncompaction-and-transmural-crypts-clinical-pathologic-correlation
#17
Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti
BACKGROUND: Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation is reported as cosegregating for familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. METHODS AND RESULTS: In an Italian family of 7 subjects, 4 aged 10 (II-1), 14 (II-2), 43 (I-4) and 46 years (I-5), presenting abnormal ECG changes, dyspnea and palpitation (II-2, I-4, and I-5), and recurrent cerebral ischemic attack (I-5), underwent 2-dimensional echo, cardiac magnetic resonance, Holter monitoring, and next-generation sequencing gene analysis...
February 10, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29438530/hypertrophic-obstructive-cardiomyopathy-what-when-why-for-whom
#18
Carlos A Mestres, Thomas Bartel, Antonio Sorgente, Silvana Müller, Christiane Gruner, Joseph Dearani, Eduard Quintana
Hypertrophic cardiomyopathy is the most common genetic cardiovascular disorder and is associated with symptoms of heart failure and increased risk of sudden cardiac death. The most common condition is obstruction of the left ventricular outflow tract. Surgical septal myectomy and alcohol septal ablation are the 2 accepted modes of septal reduction therapy and are indicated when there are advanced symptoms and a peak left ventricular outflow gradient ≥50 mmHg. Advantages of alcohol septal ablation are limited groin approach, reduction of obstruction of the left ventricular outflow tract and functional improvement, but there are higher chances for intracardiac device implantation and residual obstruction...
February 9, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29437742/implantable-cardioverter-defibrillators-in-the-context-of-hypertrophic-cardiomyopathy-a-lesson-in-patient-autonomy
#19
Jonathan James Hyett Bray, Chiara Bucciarelli-Ducci, Graham Stuart
Hypertrophiccardiomyopathy (HCM) is common, whereas the decision not to have an implantable cardioverterdefibrillator (ICD) when probably falling into a 'high-risk' category is not. A solicitor aged 45 years attended the inherited cardiac conditions clinic for review of her HCM and discussion about ICD implantation for primary prevention of sudden cardiac death (SCD). Despite a predicted 7% risk of SCD within the next 5 years, according to the European Society of Cardiology endorsed HCM Risk-SCD risk stratification tool, the patient opted against implantation of an ICD and comprehensively justifies her decision...
February 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29435968/-a-new-phenotype-of-infantile-onset-pompe-disease
#20
A Nascimento, E Villalobos-Pinto
INTRODUCTION: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. CASE REPORTS: Case 1: 2-month-old infant with predominantly axial hypotonia who required the use of a nasogastric tube as a result of difficulties in sucking and swallowing...
February 16, 2018: Revista de Neurologia
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