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HCM mutation carrier

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https://www.readbyqxmd.com/read/27885498/prognostic-predictive-value-of-gene-mutations-in-japanese-patients-with-hypertrophic-cardiomyopathy
#1
Ayako Chida, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani, Yoshiyuki Furutani, Yoichi Kawamura, Masaya Sugimoto, Jun Ishihara, Masako Fujiwara, Takashi Soga, Masatoshi Kawana, Shinya Fuji, Shigeru Tateno, Kenji Kuraishi, Shigetoyo Kogaki, Mitsuhiro Nishimura, Mamoru Ayusawa, Fukiko Ichida, Hirokuni Yamazawa, Rumiko Matsuoka, Shigeaki Nonoyama, Toshio Nakanishi
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes...
November 24, 2016: Heart and Vessels
https://www.readbyqxmd.com/read/27623770/ultrasonic-assessment-of-myocardial-microstructure-in-hypertrophic-cardiomyopathy-sarcomere-mutation-carriers-with-and-without-left-ventricular-hypertrophy
#2
Pranoti Hiremath, Patrick R Lawler, Jennifer E Ho, Andrew W Correia, Siddique A Abbasi, Raymond Y Kwong, Michael Jerosch-Herold, Carolyn Y Ho, Susan Cheng
BACKGROUND: The noninvasive assessment of altered myocardium in patients with genetic mutations that are associated with hypertrophic cardiomyopathy (HCM) remains challenging. In this pilot study, we evaluated whether a novel echocardiography-based assessment of myocardial microstructure, the signal intensity coefficient (SIC), could detect tissue-level alterations in HCM sarcomere mutation carriers with and without left ventricular hypertrophy. METHODS AND RESULTS: We studied 3 groups of genotyped individuals: sarcomere mutation carriers with left ventricular hypertrophy (clinical HCM; n=36), mutation carriers with normal left ventricular wall thickness (subclinical HCM; n=28), and healthy controls (n=10)...
September 2016: Circulation. Heart Failure
https://www.readbyqxmd.com/read/27590665/evolution-of-hypertrophic-cardiomyopathy-in-sarcomere-mutation-carriers
#3
Carolyn Y Ho, Allison L Cirino, Neal K Lakdawala, John Groarke, Anne Marie Valente, Christopher Semsarian, Steven D Colan, E John Orav
OBJECTIVE: The early natural history of sarcomere mutations and the evolution to hypertrophic cardiomyopathy (HCM) are poorly characterised. To describe phenotypic progression, we compared mutation carriers who developed HCM to those who did not during prospective longitudinal investigation. METHODS: Sarcomere mutation carriers without baseline left ventricular hypertrophy (LVH) were studied during participation in a pilot clinical trial testing diltiazem versus placebo...
September 2, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27574918/spectrum-of-mutations-in-hypertrophic-cardiomyopathy-genes-among-tunisian-patients
#4
Nawel Jaafar, Juan Gómez, Ikram Kammoun, Ihsen Zairi, Wael Ben Amara, Salem Kachboura, Sondes Kraiem, Mohamed Hammami, Sara Iglesias, Belén Alonso, Eliecer Coto
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background...
August 30, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27373729/a-long-term-follow-up-study-of-carriers-of-hypertrophic-cardiomyopathy-mutations
#5
Don R McTaggart, Kathryn J Ogden, Jessica A Marathe
BACKGROUND: Adults who test positive for a mutation associated with the development of hypertrophic cardiomyopathy (HCM) but who have not manifested left ventricular hypertrophy (LVH) at the time of that diagnosis are now commonly identified in the era of genetic testing. There are little published data, however, on the long-term outlook for these phenotypically normal gene carriers. METHODS: Fifteen genotype positive/LVH negative patients with HCM were identified, seven of which were children when first diagnosed as gene carriers...
May 20, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/27348999/spectrum-of-mybpc3-gene-mutations-in-patients-with-hypertrophic-cardiomyopathy-reporting-two-novel-mutations-from-north-west-of-iran
#6
Leila Emrahi, Mehrnoush Toufan Tabrizi, Jalal Gharehsouran, Seyyed Mojtaba Mohaddes Ardebili, Mehrdad Asghari Estiar
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death (SCD) in children and young adults and is the most frequent genetically determined cardiovascular disease following autosomal dominant pattern of inheritance. A number of genes have been shown to be responsible for HCM including MYBPC3. Cmybc, the protein encoded by MYBPC3 is a sarcomeric thick filament protein that interacts with titin, myosin, and actin to control sarcomeric gathering. Mutations in the MYBPC3 gene have been found to be associated with a history of sudden cardiac death in HCM patients...
2016: Clinical Laboratory
https://www.readbyqxmd.com/read/27324645/morphological-and-functional-abnormalities-pattern-in-hypertrophy-free-hcm-mutation-carriers-detected-with-echocardiography
#7
Jérôme Peyrou, Patricia Réant, Amélie Reynaud, Claire Cornolle, Marina Dijos, Caroline Rooryck-Thambo, Mathieu Landelle, Michel Montaudon, François Laurent, Raymond Roudaut, Stéphane Lafitte
To evaluate if morphological or functional abnormalities could be detected with echocardiography in hypertrophic myocardiopathy (HCM) mutation carriers without left ventricle (LV) hypertrophy has developed. HCM is caused by extensive genes mutations found in two-third of patients. Because screening for carriership of a large population is unreasonable, identification of asymptomatic subjects is confined to the use of imaging such as echocardiography, by which subtle abnormalities can be detected. Comprehensive echocardiographic studies including morphological and functional assessment were performed...
June 20, 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/27323879/the-embryological-basis-of-subclinical-hypertrophic-cardiomyopathy
#8
Gabriella Captur, Carolyn Y Ho, Saskia Schlossarek, Janet Kerwin, Mariana Mirabel, Robert Wilson, Stefania Rosmini, Chinwe Obianyo, Patricia Reant, Paul Bassett, Andrew C Cook, Susan Lindsay, William J McKenna, Kevin Mills, Perry M Elliott, Timothy J Mohun, Lucie Carrier, James C Moon
Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27259862/cardiovascular-magnetic-resonance-of-mitral-valve-length-in-hypertrophic-cardiomyopathy
#9
Mika Tarkiainen, Petri Sipola, Mikko Jalanko, Tiina Heliö, Mika Laine, Vesa Järvinen, Kaisu Häyrinen, Kirsi Lauerma, Johanna Kuusisto
BACKGROUND: Previous data suggest that mitral valve leaflets are elongated in hypertrophic cardiomyopathy (HCM), and mitral valve leaflet elongation may constitute a primary phenotypic expression of HCM. Our objective was to measure the length of mitral valve leaflets by cardiovascular magnetic resonance (CMR) in subjects with HCM caused by a Finnish founder mutation in the myosin-binding protein C gene (MYBPC3-Q1061X), carriers of the same mutation without left ventricular hypertrophy, as well as in unselected consecutive patients with HCM, and respective controls...
2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27108529/comparison-of-the-effects-of-a-truncating-and-a-missense-mybpc3-mutation-on-contractile-parameters-of-engineered-heart-tissue
#10
Paul J M Wijnker, Felix W Friedrich, Alexander Dutsch, Silke Reischmann, Alexandra Eder, Ingra Mannhardt, Giulia Mearini, Thomas Eschenhagen, Jolanda van der Velden, Lucie Carrier
Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. The most frequently mutated gene is MYBPC3, encoding cardiac myosin-binding protein-C (cMyBP-C). We compared the pathomechanisms of a truncating mutation (c.2373_2374insG) and a missense mutation (c.1591G>C) in MYBPC3 in engineered heart tissue (EHT). EHTs enable to study the direct effects of mutants without interference of secondary disease-related changes...
August 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27057166/mutation-specific-phenotypes-in-hipsc-derived-cardiomyocytes-carrying-either-myosin-binding-protein-c-or-%C3%AE-tropomyosin-mutation-for-hypertrophic-cardiomyopathy
#11
Marisa Ojala, Chandra Prajapati, Risto-Pekka Pölönen, Kristiina Rajala, Mari Pekkanen-Mattila, Jyrki Rasku, Kim Larsson, Katriina Aalto-Setälä
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease, which affects the structure of heart muscle tissue. The clinical symptoms include arrhythmias, progressive heart failure, and even sudden cardiac death but the mutation carrier can also be totally asymptomatic. To date, over 1400 mutations have been linked to HCM, mostly in genes encoding for sarcomeric proteins. However, the pathophysiological mechanisms of the disease are still largely unknown. Two founder mutations for HCM in Finland are located in myosin-binding protein C (MYBPC3-Gln1061X) and α-tropomyosin (TPM1-Asp175Asn) genes...
2016: Stem Cells International
https://www.readbyqxmd.com/read/27041097/aortic-stiffness-in-youth-with-hypertrophic-cardiomyopathy-genotype
#12
Justin P Zachariah, Philip K Johnson, Steven D Colan
Clinical events in hypertrophic cardiomyopathy (HCM) patients are related to the degree of hypertrophy. Aortic stiffness in adult HCM patients has been reported to be higher than control patients. Increased stiffness may cause more LV hypertrophy and thus lead to more clinical events. We sought to (a) noninvasively compare aortic structure and function between youth with sarcomeric HCM genotype versus control youth and (b) explore the relation between aortic function and degree of left ventricular (LV) hypertrophy...
June 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/26914916/impact-of-the-papillary-muscles-on-cardiac-magnetic-resonance-image-analysis-of-important-left-ventricular-parameters-in-hypertrophic-cardiomyopathy
#13
D H F Gommans, J Bakker, G E Cramer, F W A Verheugt, M A Brouwer, M J M Kofflard
PURPOSE: The use of cardiac magnetic resonance (CMR) analysis has increased in patients with hypertrophic cardiomyopathy (HCM). Quantification of left ventricular (LV) measures will be affected by the inclusion or exclusion of the papillary muscles as part of the LV mass, but the magnitude of effect and potential consequences are unknown. METHODS: We performed Cine-CMR in (1) clinical HCM patients (n = 55) and (2) subclinical HCM mutation carriers without hypertrophy (n = 14)...
May 2016: Netherlands Heart Journal
https://www.readbyqxmd.com/read/26813553/-relationship-between-electrocardiographic-and-genetic-mutation-myh7-h1717q-mylk2-k324e-and-kcnq1-r190w-phenotype-in-patients-with-hypertrophic-cardiomyopathy
#14
Hong Shao, Yanmin Zhang, Liwen Liu, Zhiling Ma, Lei Zuo, Chuang Ye, Xiaomei Wei, Chao Sun, Ling Tao
OBJECTIVE: To explore the relationship between electrocardiographic (ECG) and genetic mutations of patients with hypertrophic cardiomyopathy (HCM), and early ECG changes in HCM patients. METHODS: Clinical, 12-lead ECG and echocardiographic examination as well as genetic examinations were made in a three-generation Chinses HCM pedigree with 8 family members (4 males). The clinical characterization and ECG parameters were analyzed and their relationship with genotypes in the family was explored...
January 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/26440512/a-systematic-review-of-phenotypic-features-associated-with-cardiac-troponin-i-mutations-in-hereditary-cardiomyopathies
#15
REVIEW
Jens Mogensen, Thomas Hey, Sascha Lambrecht
BACKGROUND: Genetic investigations have established that mutations in proteins of the contractile unit of the myocardium, known as the sarcomere, may be associated with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). It has become clinical practice to offer genetic testing in affected individuals to identify causative mutations, which provides the basis for presymptomatic testing of relatives who are at risk of disease development...
November 2015: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/26343497/the-e3-ubiquitin-ligase-asb2%C3%AE-is-downregulated-in-a-mouse-model-of-hypertrophic-cardiomyopathy-and-targets-desmin-for-proteasomal-degradation
#16
Tilo Thottakara, Felix W Friedrich, Silke Reischmann, Simon Braumann, Saskia Schlossarek, Elisabeth Krämer, Denise Juhr, Hartmut Schlüter, Jolanda van der Velden, Julia Münch, Monica Patten, Thomas Eschenhagen, Christel Moog-Lutz, Lucie Carrier
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease with mutations in genes encoding sarcomeric proteins. Previous findings suggest deregulation of the ubiquitin proteasome system (UPS) in HCM in humans and in a mouse model of HCM (Mybpc3-targeted knock-in (KI) mice). In this study we investigated transcript levels of several muscle-specific E3 ubiquitin ligases in KI mice and aimed at identifying novel protein targets. METHODS AND RESULTS: Out of 9 muscle-specific E3 ligases, Asb2β was found with the lowest mRNA level in KI compared to wild-type (WT) mice...
October 2015: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/26267065/the-metabolome-in-finnish-carriers-of-the-mybpc3-q1061x-mutation-for-hypertrophic-cardiomyopathy
#17
Benedicte Jørgenrud, Mikko Jalanko, Tiina Heliö, Pertti Jääskeläinen, Mika Laine, Mika Hilvo, Markku S Nieminen, Markku Laakso, Tuulia Hyötyläinen, Matej Orešič, Johanna Kuusisto
AIMS: Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing MYBPC3-Q1061X mutation with and without left ventricular hypertrophy (LVH) and non-affected relatives, and the association of the metabolome to the echocardiographic parameters. METHODS AND RESULTS: 34 hypertrophic subjects carrying the MYBPC3-Q1061X mutation, 19 non-hypertrophic mutation carriers and 20 relatives with neither mutation nor hypertrophy were examined using comprehensive echocardiography...
2015: PloS One
https://www.readbyqxmd.com/read/26231341/echocardiographic-evaluation-of-pre-diagnostic-development-in-young-relatives-genetically-predisposed-to-hypertrophic-cardiomyopathy
#18
Morten K Jensen, Ole Havndrup, Michael Christiansen, Paal S Andersen, Anna Axelsson, Lars Køber, Henning Bundgaard
Identification of the first echocardiographic manifestations of hypertrophic cardiomyopathy may be important for clinical management and our understanding of the pathogenesis. We studied the development of pre-diagnostic echocardiographic changes in young relatives to HCM patients during long-term years follow-up. HCM-relatives not fulfilling the diagnostic criteria for HCM and age of <18 years were included in this study. We performed echocardiographic evaluations at inclusion and after 12 ± 1 years follow-up...
December 2015: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/26219660/abnormal-septal-convexity-into-the-left-ventricle-occurs-in-subclinical-hypertrophic-cardiomyopathy
#19
Patricia Reant, Gabriella Captur, Mariana Mirabel, Arthur Nasis, Daniel M Sado, Viviana Maestrini, Silvia Castelletti, Charlotte Manisty, Anna S Herrey, Petros Syrris, Maite Tome-Esteban, Sharon Jenkins, Perry M Elliott, William J McKenna, James C Moon
BACKGROUND: Sarcomeric gene mutations cause hypertrophic cardiomyopathy (HCM). In gene mutation carriers without left ventricular (LV) hypertrophy (G + LVH-), subclinical imaging biomarkers are recognized as predictors of overt HCM, consisting of anterior mitral valve leaflet elongation, myocardial crypts, hyperdynamic LV ejection fraction, and abnormal apical trabeculation. Reverse curvature of the interventricular septum (into the LV) is characteristic of overt HCM. We aimed to assess LV septal convexity in subclinical HCM...
2015: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/26075114/identification-of-slc22a5-gene-mutation-in-a-family-with-carnitine-uptake-defect
#20
Hatice Mutlu-Albayrak, Judit Bene, Mehmet Burhan Oflaz, Tijen Tanyalçın, Hüseyin Çaksen, Bela Melegh
Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months...
2015: Case Reports in Genetics
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