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HCM mutation carrier

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https://www.readbyqxmd.com/read/28214152/clinical-and-genetic-diagnosis-of-familial-hypertrophic-cardiomyopathy-results-in-pediatric-cardiology
#1
Bárbara Cardoso, Inês Gomes, Petra Loureiro, Conceição Trigo, Fátima Ferreira Pinto
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant inheritance with incomplete penetrance and variable expression. The main purpose of family screening is to identify relatives with unrecognized HCM and to monitor those at risk for disease, in order to minimize complications and to assess risk of sudden cardiac death. The ESC and ACCF/AHA guidelines on the diagnosis and management of HCM recommend the screening of child relatives from the age of 10-12 years...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28090637/diltiazem-prevents-stress-induced-contractile-deficits-in-cardiomyocytes-but-does-not-reverse-the-cardiomyopathy-phenotype-in-mybpc3-knock-in-mice
#2
Frederik Flenner, Birgit Geertz, Silke Reischmann-Düsener, Florian Weinberger, Thomas Eschenhagen, Lucie Carrier, Felix W Friedrich
Left ventricular hypertrophy, diastolic dysfunction and fibrosis are main features of hypertrophic cardiomyopathy (HCM). Guidelines recommend β-adrenoceptor or Ca(2+) channel antagonists as pharmacological treatment. The Ca(2+) channel blocker diltiazem recently showed promising beneficial effects in pre-clinical HCM, particularly in patients carrying MYBPC3 mutations. In the present study we evaluated whether diltiazem could ameliorate or reverse the disease phenotype in cells and in vivo in Mybpc3-targeted knock-in (KI) mouse model of HCM...
January 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28029522/a-novel-founder-mutation-in-mybpc3-phenotypic-comparison-with-the-most-prevalent-mybpc3-mutation-in-spain
#3
María Sabater-Molina, Daniel Saura, Esperanza García-Molina Sáez, Josefa González-Carrillo, Luis Polo, Inmaculada Pérez-Sánchez, María Del Carmen Olmo, María José Oliva-Sandoval, Roberto Barriales-Villa, Pablo Carbonell, Domigo Pascual-Figal, Juan R Gimeno
INTRODUCTION AND OBJECTIVES: Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c.2308+1 G>A). METHODS: We studied 107 relatives of 13 index cases diagnosed as HCM carriers of the p...
February 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28013283/delayed-and-decreased-lv-untwist-and-unstrain-rate-in-mutation-carriers-for-hypertrophic-cardiomyopathy
#4
Floris Kauer, Bas M van Dalen, Michelle Michels, Arend F L Schinkel, Wim B Vletter, Marjon van Slegtenhorst, Osama I I Soliman, Marcel L Geleijnse
BACKGROUND: The echocardiographic focus to detect abnormalities in genetically hypertrophic cardiomyopathy (HCM) affected subjects without left ventricular (LV) hypertrophy (G+/LVH-) has been on diastolic abnormalities in transmitral flow and longitudinal myocardial function with tissue Doppler imaging. The aim of this study was to assess diastolic LV unstrain and untwist. METHODS AND RESULTS: Forty-one consecutive genotyped family members of HCM patients (mean age 37 ± 11 years, 16 men) and 41 age- and gender-matched healthy volunteers underwent speckle-tracking echocardiography to measure untwist and unstrain...
December 24, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27994558/epigallocatechin-3-gallate-accelerates-relaxation-and-ca-2-transient-decay-and-desensitizes-myofilaments-in-healthy-and-mybpc3-targeted-knock-in-cardiomyopathic-mice
#5
Felix W Friedrich, Frederik Flenner, Mahtab Nasib, Thomas Eschenhagen, Lucie Carrier
Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac muscle disease with left ventricular hypertrophy, interstitial fibrosis and diastolic dysfunction. Increased myofilament Ca(2+) sensitivity could be the underlying cause of diastolic dysfunction. Epigallocatechin-3-gallate (EGCg), a catechin found in green tea, has been reported to decrease myofilament Ca(2+) sensitivity in HCM models with troponin mutations. However, whether this is also the case for HCM-associated thick filament mutations is not known...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27885498/prognostic-predictive-value-of-gene-mutations-in-japanese-patients-with-hypertrophic-cardiomyopathy
#6
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
#7
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
#8
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
#9
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 cardiac genetic 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...
November 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27373729/a-long-term-follow-up-study-of-carriers-of-hypertrophic-cardiomyopathy-mutations
#10
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...
January 2017: 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
#11
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
#12
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...
September 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/27323879/the-embryological-basis-of-subclinical-hypertrophic-cardiomyopathy
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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