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https://www.readbyqxmd.com/read/29921517/the-vital-role-of-exercise-testing-in-hypertrophic-cardiomyopathy
#1
EDITORIAL
Caroline J Coats
No abstract text is available yet for this article.
June 7, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29915098/primary-myocardial-fibrosis-as-an-alternative-phenotype-pathway-of-inherited-cardiac-structural-disorders
#2
M Juhani Junttila, Lauri Holmström, Katri Pylkäs, Tuomo Mantere, Kari Kaikkonen, Katja Porvari, Marja-Leena Kortelainen, Lasse Pakanen, Risto Kerkelä, Robert J Myerburg, Heikki V Huikuri
BACKGROUND: Myocardial fibrosis is a common postmortem finding among young individuals with sudden cardiac death. Because there is no known single cause, we tested the hypothesis that some cases of myocardial fibrosis in the absence of identifiable causes (primary myocardial fibrosis [PMF]) are associated with genetic variants. METHODS: Tissue was obtained at autopsy from 4031 consecutive individuals with sudden cardiac death in Northern Finland, among whom PMF was the only structural finding in 145 subjects with sudden cardiac death...
June 19, 2018: Circulation
https://www.readbyqxmd.com/read/29914921/determining-the-pathogenicity-of-a-genomic-variant-of-uncertain-significance-using-crispr-cas9-and-human-induced-pluripotent-stem-cells
#3
Ning Ma, Joe Zhang, Ilanit Itzhaki, Sophia L Zhang, Haodong Chen, Francois Haddad, Tomoya Kitani, Kitchener D Wilson, Lei Tian, Rajani Shrestha, Haodi Wu, Chi Keung Lam, Nazish Sayed, Joseph C Wu
Background -The progression toward low-cost and rapid next-generation sequencing has uncovered a multitude of variants of uncertain significance (VUS) in both patients and asymptomatic "healthy" individuals. A VUS is a rare or novel variant for which disease pathogenicity has not been conclusively demonstrated or excluded, and thus cannot be definitively annotated. VUS, therefore, pose critical clinical interpretation and risk-assessment challenges, and new methods are urgently needed to better characterize their pathogenicity...
June 18, 2018: Circulation
https://www.readbyqxmd.com/read/29912308/metabolic-changes-in-hypertrophic-cardiomyopathies-scientific-update-from-the-working-group-of-myocardial-function-of-the-european-society-of-cardiology
#4
Jolanda van der Velden, Carlo Gabriele Tocchetti, Gilda Varricchi, Anna Bianco, Vasco Sequeira, Denise Hilfiker-Kleiner, Nazha Hamdani, Adelino Leite-Moreira, Manuel Mayr, Ines Falcão-Pires, Thomas Thum, Dana K Dawson, Jean-Luc Balligand, Stephane Heymans
Disturbed metabolism as a consequence of obesity and diabetes may cause cardiac diseases (recently highlighted in the CVR spotlight issue on Metabolic cardiomyopathies).1 In turn, the metabolism of the heart may also be disturbed in genetic and acquired forms of hypertrophic cardiac disease. Here, we provide an overview of recent insights on metabolic changes in genetic hypertrophic cardiomyopathy (HCM) and discuss several therapies which may be explored to target disturbed metabolism and prevent onset of cardiac hypertrophy...
June 15, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29911009/diagnostic-clues-for-the-diagnosis-of-nonsarcomeric-hypertrophic-cardiomyopathy-phenocopies-amyloidosis-fabry-disease-and-mitochondrial-disease
#5
Giuseppe Limongelli, Daniele Masarone, Marina Verrengia, Rita Gravino, Gemma Salerno, Silvia Castelletti, Marta Rubino, Tommaso Marrazzo, Antonio Pisani, Franco Cecchi, Perry Mark Elliott, Giuseppe Pacileo
Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1:500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopies) in about 10%-15% of the patients. Early diagnosis of storage and infiltrative disorders, particularly those with specific treatments (i.e., Fabry disease and/or amyloidosis), means early management and treatment, with a significant impact on patients prognosis...
April 2018: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/29910224/contemporary-septal-reduction-therapy-in-drug-refractory-hypertrophic-obstructive-cardiomyopathy
#6
Yuichiro Maekawa, Keitaro Akita, Shuichiro Takanashi
Hypertrophic cardiomyopathy (HCM) is a complex and relatively common genetic cardiac disease that has been the subject of intense investigation for over 50 years. Most patients with HCM are asymptomatic, but some develop symptoms, often many years after the appearance of electrocardiographic or echocardiographic evidence of left ventricular hypertrophy. Symptoms due to the left ventricular outflow tract obstruction frequently worsen over time, requiring septal reduction therapy (SRT) despite optimal medical therapy...
June 15, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29907873/genetic-background-of-japanese-patients-with-pediatric-hypertrophic-and-restrictive-cardiomyopathy
#7
Takeharu Hayashi, Kousuke Tanimoto, Kayoko Hirayama-Yamada, Etsuko Tsuda, Mamoru Ayusawa, Shinichi Nunoda, Akira Hosaki, Akinori Kimura
Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) present a high risk for sudden cardiac death in pediatric patients. The aim of this study was to identify disease-associated genetic variants in Japanese patients with pediatric HCM and RCM. We analyzed 67 cardiomyopathy-associated genes in 46 HCM and 7 RCM patients diagnosed before 16 years of age using a next-generation sequencing system. We found that 78% of HCM and 71% of RCM patients carried disease-associated genetic variants. Disease-associated genetic variants were identified in 80% of HCM patients with a family history and in 77% of HCM patients with no apparent family history (NFH)...
June 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29907457/what-may-the-future-hold-for-sports-cardiology
#8
REVIEW
André La Gerche, Aaron Baggish, Hein Heidbuchel, Benjamin D Levine, Dhrubo Rakhit
The field of sports cardiology has advanced significantly over recent times. It has incorporated clinical and research advances in cardiac imaging, electrophysiology and exercise physiology to enable better diagnostic and therapeutic management of our patients. One important endeavour has been to try and better differentiate athletic cardiac remodelling from inherited cardiomyopathies and other pathologies. Whilst our diagnostic tools have improved, there have also been errors resulting from assumptions that the pathological traits observed in the general population would be generalisable to athletic populations...
June 6, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29904456/brockenbrough-braunwald-morrow-sign-an-evaluative-hemodynamic-maneuver-for-left-ventricular-outflow-tract-obstruction
#9
Glenmore Lasam
A case of a 77-year-old woman with a history of hypertrophic cardiomyopathy (HCM) presented with intermittent episodes of exertional dyspnea and chest discomfort. Her coronary angiogram revealed normal coronary arteries but with hypertrophic obstructive cardiomyopathy with an increasing left ventricular-aortic gradient on isoproterenol provocation. Likewise, an intensified gradient was observed after a premature ventricular contraction (PVC) that is distinguished as the Brockenbrough-Braunwald-Morrow sign substantiating confirmation of left ventricular outflow tract (LVOT) obstruction...
June 2018: Cardiology Research
https://www.readbyqxmd.com/read/29904160/genetic-evaluation-of-cardiomyopathy-a-clinical-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#10
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
PURPOSE: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life...
June 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29900280/data-on-whole-length-myosin-binding-protein-c-stabilizes-myosin-s2-as-measured-by-gravitational-force-spectroscopy
#11
Rohit R Singh, James W Dunn, Motamed M Qadan, Nakiuda Hall, Kathy K Wang, Douglas D Root
Data presented in this article relates to the research article entitled "Whole length myosin binding protein C stabilizes myosin subfragment-2 (S2) flexibility as measured by gravitational force spectroscopy." (Singh et al., 2018) [1]. The data exhibits the purified skeletal myosin binding protein C (MyBPC) from rabbit back muscle was of slow skeletal type confirmed by chromatography and in unphosphorylated state based on its isoelectric point (pI) by chromatofocussing. The competitive enzyme linked immunosorbent assay (cELISA) data displayed the site specificity of polyclonal anti-S2 antibody to myosin S2...
June 2018: Data in Brief
https://www.readbyqxmd.com/read/29899266/use-of-acupuncture-in-an-infant-with-restlessness-and-agitation
#12
Katharina Murg, Wolfgang Raith, Berndt Urlesberger
Background: We are reporting here about a 3-month-old boy with a history of failure to thrive, hypertrophic obstructive cardiomyopathy and neurological misbehaviour including hypotension in body muscles, who was found to have screaming attacks, agitation and restlessness. Methods/Results: Body and ear acupuncture was used both as supporting and integrative therapy to reduce the phases of restlessness and screaming and, simultaneously, the use of hypnotic drugs, as well as to improve the baby’s thriving...
June 13, 2018: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/29896993/prolonged-veno-arterial-extracorporeal-life-support-for-cardiac-failure
#13
Sabina Pw Guenther, Yasuhiro Shudo, William Hiesinger, Dipanjan Banerjee
OBJECTIVES: In intractable cardiogenic shock, extracorporeal life support frequently is the last treatment option. Outcomes of prolonged veno-arterial extracorporeal life support for cardiac failure are poorly defined. METHODS: We retrospectively analyzed 10 patients (4 females, age = 36 ± 16 years) who underwent prolonged extracorporeal life support (≥7 days) from December 2015 to March 2017 for cardiogenic shock. The primary endpoint was survival to hospital discharge...
June 1, 2018: International Journal of Artificial Organs
https://www.readbyqxmd.com/read/29893985/-management-of-hypertrophic-cardiomyopathy-the-most-common-inherited-heart-disease
#14
Peter Magnusson, Fredrik Gadler, Stellan Mörner
Hypertrophic cardiomyopathy is the most common cardiogenetic disease affecting 1/500-1/1 000 individuals. Dyspnea is common but chest pain, dizziness or fainting may also cause considerable limitation for the patient. The diagnosis can be suspected from ECG. Echocardiography confirms hypertrophy of at least 15 mm, usually in the septum. If the obstruction of the outflow tract is severe, myectomy or alcohol ablation can relieve symptoms. Genetic evaluation of family members is advisable. To reduce symptoms, betablockers are used; verapamil or disopyramide are alternatives...
June 11, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29893504/left-ventricular-apical-aneurysm-in-hypertrophic-cardiomyopathy-as-a-risk-factor-for-sudden-death-at-any-age
#15
REVIEW
Ethan J Rowin, Barry J Maron, Aalap Chokshi, Martin S Maron
In hypertrophic cardiomyopathy (HCM) aging has proved protective against sudden death (SD) risk and aggressive recommendations for prophylactic ICDs are uncommon ≥ 60 years. Nevertheless, we present a patient with an unexpected but aborted sudden death event at the advanced age of 71 years due to a left ventricular apical aneurysm (LVAA) which has emerged as a novel SD marker. Subsequent reappraisal of the Tufts HCM database, specifically the 118 LVAA patients, showed that 36% of SD events occurred at ≥ 60 years, 8-fold greater than patients ≥ 60 years without aneurysms (16% vs...
June 12, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29891648/hypoxia-induced-mitogenic-factor-promotes-cardiac-hypertrophy-via-calcium-dependent-and-hypoxia-inducible-factor-1%C3%AE-mechanisms
#16
Santosh Kumar, Gang Wang, Wenjuan Liu, Wenwen Ding, Ming Dong, Na Zheng, Hongyu Ye, Jie Liu
HIMF (hypoxia-induced mitogenic factor/found in inflammatory zone 1/resistin like α) is a secretory and cytokine-like protein and serves as a critical stimulator of hypoxia-induced pulmonary hypertension. With a role for HIMF in heart disease unknown, we explored the possible roles for HIMF in cardiac hypertrophy by overexpressing and knocking down HIMF in cardiomyocytes and characterizing HIMF gene ( himf ) knockout mice. We found that HIMF mRNA and protein levels were upregulated in phenylephrine-stimulated cardiomyocyte hypertrophy and our mouse model of transverse aortic constriction-induced cardiac hypertrophy, as well as in human hearts with dilated cardiomyopathy...
June 11, 2018: Hypertension
https://www.readbyqxmd.com/read/29891249/differentiating-athlete-s-heart-from-cardiomyopathies-the-left-side
#17
Maria J Brosnan, Dhrubo Rakhit
In athletes who undertake a high volume of high intensity exercise, the resultant changes in cardiac structure and function which develop as a result of physiological adaptation to exercise (so called "Athlete's Heart") may overlap with some features of pathological conditions. This chapter will focus on the left side of the heart, where left ventricular cavity enlargement, increase in left ventricular wall thickness and increased left ventricular trabeculation associated with athletic remodelling may sometimes be difficult to differentiate from conditions such as dilated cardiomyopathy, hypertrophic cardiomyopathy or isolated left ventricular non-compaction...
May 16, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29887442/numerical-simulation-study-on-systolic-anterior-motion-of-the-mitral-valve-in-hypertrophic-obstructive-cardiomyopathy
#18
Long Deng, Xueying Huang, Chun Yang, Bin Lyu, Fujian Duan, Dalin Tang, Yunhu Song
BACKGROUND: The hydrodynamic mechanisms of systolic anterior motion (SAM) of the mitral valve in hypertrophic obstructive cardiomyopathy (HOCM) remain unclear. METHODS: Based on computed tomography (CT) images and clinical data, pre- and post-operative computational models of the left ventricle were constructed for 6 HOCM patients receiving septal myectomy. SAM was abolished in 5 patients and persisted in one after septal myectomy surgery. The obtained simulation results including flow field of the left ventricle and mechanical behaviors of the mitral valve (MV) between pre- and post-operative FSI models were compared...
September 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29885701/outcomes-following-the-surgical-management-of-left-ventricular-outflow-tract-obstruction-a-systematic-review-and-meta-analysis
#19
R A Collis, M S Rahman, O Watkinson, O P Guttmann, C O'Mahony, P M Elliott
BACKGROUND: Left ventricular outflow tract obstruction (LVOTO) causes exertional symptoms in two thirds of patients with hypertrophic cardiomyopathy (HCM). Consensus guidelines recommend surgical intervention in patients with drug refractory symptoms. The primary aim of this study was to perform a systematic review and meta-analysis to determine morbidity and mortality after surgery. METHODS: Study Selection: Studies reporting outcomes following surgical intervention for symptomatic LVOTO in HCM...
August 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29885652/mir-1-3p-that-correlates-with-left-ventricular-function-of-hcm-can-serve-as-a-potential-target-and-differentiate-hcm-from-dcm
#20
Mengmeng Li, Xiao Chen, Liang Chen, Kai Chen, Jianye Zhou, Jiangping Song
BACKGROUND: MicroRNAs (miRNAs) are non-coding RNAs that function as regulators of gene expression and thereby contribute to the complex disease phenotypes. Hypertrophic cardiomyopathy (HCM) and Dilated cardiomyopathy (DCM) can cause sudden cardiac death and eventually develop into heart failure. However, they have different clinical and pathophysiological phenotype and the expressional spectrum of miRNAs in left ventricles of HCM and DCM has never been compared before. METHODS: This study selected 30 human left ventricular heart samples belonged to three diagnostic groups (Control, HCM, DCM)...
June 9, 2018: Journal of Translational Medicine
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