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HCM mutation carrier

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https://www.readbyqxmd.com/read/29743414/asn391thr-mutation-of-%C3%AE-myosin-heavy-chain-in-a-hypertrophic-cardiomyopathy-family
#1
Xiaotong Feng, Tingting He, Ji-Gang Wang, Peng Zhao
The present study was performed to identify the genetic abnormalities in a family with familial hypertrophic cardiomyopathy.Peripheral blood samples were collected from 22 members of a Chinese family with hypertrophic cardiomyopathy and 307 healthy controls. A total of 26 candidate pathogenic genes were analyzed in the proband using targeted capture sequencing. Identified mutations were analyzed using Sanger sequencing in all family members and healthy controls.A missense mutation (c.1172A>C, p. Asn391Thr) in exon 12 of MYH7 was identified in eight family members, among which six of them were hypertrophic cardiomyopathy carriers...
May 9, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29741611/crispr-cas9-editing-in-human-pluripotent-stem-cell-cardiomyocytes-highlights-arrhythmias-hypocontractility-and-energy-depletion-as-potential-therapeutic-targets-for-hypertrophic-cardiomyopathy
#2
Diogo Mosqueira, Ingra Mannhardt, Jamie R Bhagwan, Katarzyna Lis-Slimak, Puspita Katili, Elizabeth Scott, Mustafa Hassan, Maksymilian Prondzynski, Stephen C Harmer, Andrew Tinker, James G W Smith, Lucie Carrier, Philip M Williams, Daniel Gaffney, Thomas Eschenhagen, Arne Hansen, Chris Denning
Aims: Sarcomeric gene mutations frequently underlie hypertrophic cardiomyopathy (HCM), a prevalent and complex condition leading to left ventricle thickening and heart dysfunction. We evaluated isogenic genome-edited human pluripotent stem cell-cardiomyocytes (hPSC-CM) for their validity to model, and add clarity to, HCM. Methods and results: CRISPR/Cas9 editing produced 11 variants of the HCM-causing mutation c.C9123T-MYH7 [(p.R453C-β-myosin heavy chain (MHC)] in 3 independent hPSC lines...
May 8, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29622585/prevalence-and-progression-of-late-gadolinium-enhancement-in-children-and-adolescents-with-hypertrophic-cardiomyopathy
#3
Anna Axelsson Raja, Hoshang Farhad, Anne Marie Valente, John-Paul Couce, John Lynn Jefferies, Henning Bundgaard, Kenneth Zahka, Harry Lever, Anne M Murphy, Euan Ashley, Sharlene M Day, Mark V Sherrid, Ling Shi, David A Bluemke, Charles E Canter, Steven D Colan, Carolyn Y Ho
Background -Late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) is believed to represent dense replacement fibrosis. It is seen in ~60% of adult patients with hypertrophic cardiomyopathy (HCM). However, the prevalence of LGE in children and adolescents with HCM is not well established. Additionally, longitudinal studies describing the development and evolution of LGE in pediatric HCM are lacking. This study assesses the prevalence, progression, and clinical correlations of LGE in children and adolescents with, or genetically predisposed to, HCM...
April 5, 2018: Circulation
https://www.readbyqxmd.com/read/29550324/native-t1-and-extracellular-volume-in-transthyretin-amyloidosis
#4
Ana Martinez-Naharro, Tushar Kotecha, Karl Norrington, Michele Boldrini, Tamer Rezk, Candida Quarta, Thomas A Treibel, Carol J Whelan, Daniel S Knight, Peter Kellman, Frederick L Ruberg, Julian D Gillmore, James C Moon, Philip N Hawkins, Marianna Fontana
OBJECTIVES: This study evaluated the prognostic potential of native myocardial T1 in cardiac transthyretin amyloidosis (ATTR) and compared native T1 with extracellular volume (ECV) in terms of diagnostic accuracy and prognosis. BACKGROUND: ATTR is an increasingly recognized cause of heart failure that has an overlapping clinical phenotype with hypertrophic cardiomyopathy (HCM). Native T1 mapping by cardiac magnetic resonance (CMR) is useful for diagnosis in cardiac amyloidosis but its prognostic potential has never been assessed...
March 12, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29549657/a-novel-missense-mutation-p-gly162glu-of-the-gene-myl2-involved-in-hypertrophic-cardiomyopathy-a-pedigree-analysis-of-a-proband
#5
Pauline Renaudin, Alexandre Janin, Gilles Millat, Philippe Chevalier
BACKGROUND: Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy, is mostly caused by mutations in sarcomeric genes. Identifying the genetic cause is important for management, therapy, and genetic counseling. METHODS: A molecular diagnosis was performed on a 51-year-old woman diagnosed with HCM using a next-generation sequencing workflow based on a panel designed for sequencing the most prevalent cardiomyopathy-causing genes...
April 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29343710/phenotypic-diversity-identified-by-cardiac-magnetic-resonance-in-a-large-hypertrophic-cardiomyopathy-family-with-a-single-myh7-mutation
#6
Jie Wang, Ke Wan, Jiayu Sun, Weihao Li, Hong Liu, Yuchi Han, Yucheng Chen
Limited data is available on phenotypic variations with the same genotype in hypertrophic cardiomyopathy (HCM). The present study aims to explore the relationship between genotype and phenotype characterized by cardiovascular magnetic resonance (CMR) in a large Chinese family. A proband diagnosed with HCM from a multigenerational family underwent next-generation sequencing based on a custom sureSelect panel, including 117 candidate pathogenic genes associated with cardiomyopathies. All genetic results were confirmed by the Sanger sequencing method...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29310338/genetic-polymorphism-of-angiotensin-converting-enzyme-and-hypertrophic-cardiomyopathy-risk-a-systematic-review-and-meta-analysis
#7
REVIEW
Ye Yuan, Lin Meng, Yan Zhou, Na Lu
BACKGROUND: Genetic factors in the pathogenesis of cardiomyopathies have received a lot of attention during the past 2 decades. Some studies have reported that angiotensin-converting enzyme (ACE) gene has been associated with hypertrophic cardiomyopathy (HCM). However, there have been inconsonant results among different studies. To clarify the influence of ACE on HCM, a systemic review and meta-analysis of case-control studies were performed. METHODS: The following databases were searched to indentify related studies: PubMed database, the Embase database, the Cochrane Central Register of Controlled Trials database, China National Knowledge Information database, and Chinese Scientific and Technological Journal database...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29284499/left-atrial-structure-and-function-in-hypertrophic-cardiomyopathy-sarcomere-mutation-carriers-with-and-without-left-ventricular-hypertrophy
#8
Hoshang Farhad, Sara B Seidelmann, Davis Vigneault, Siddique A Abbasi, Eunice Yang, Sharlene M Day, Steven D Colan, Mark W Russell, Jeffrey Towbin, Mark V Sherrid, Charles E Canter, Ling Shi, Michael Jerosch-Herold, David A Bluemke, Carolyn Ho, Tomas G Neilan
BACKGROUND: Impaired left atrial (LA) function is an early marker of cardiac dysfunction and predictor of adverse cardiac events. Herein, we assess LA structure and function in hypertrophy in hypertrophic cardiomyopathy (HCM) sarcomere mutation carriers with and without left ventricular hypertrophy (LVH). METHOD: Seventy-three participants of the HCMNet study who underwent cardiovascular magnetic resonance (CMR) imaging were studied, including mutation carriers with overt HCM (n = 34), preclinical mutation carriers without HCM (n = 24) and healthy, familial controls (n = 15)...
December 28, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/29177058/biomarkers-of-cardiovascular-stress-and-fibrosis-in-preclinical-hypertrophic-cardiomyopathy
#9
Jennifer E Ho, Ling Shi, Sharlene M Day, Steven D Colan, Mark W Russell, Jeffrey A Towbin, Mark V Sherrid, Charles E Canter, John Lynn Jefferies, Anne Murphy, Matthew Taylor, Luisa Mestroni, Allison L Cirino, Lynn A Sleeper, Peter Jarolim, Begoña Lopez, Arantxa Gonzalez, Javier Diez, E John Orav, Carolyn Y Ho
Objective: Sarcomeric gene mutation carriers without overt left ventricular hypertrophy (G+/LVH-) can harbour subclinical changes in cardiovascular structure and function that precede the development of hypertrophic cardiomyopathy (HCM). We sought to investigate if circulating biomarkers of cardiovascular stress and collagen metabolism among G+/LVH- individuals, measured at rest and following exercise provocation, yield further insights into the underlying biology of HCM. Methods: We studied 76 individuals with overt HCM, 50 G+/LVH- individuals and 41 genotype-negative related controls enrolled in a cross-sectional, multicentre observational study (HCMNet)...
2017: Open Heart
https://www.readbyqxmd.com/read/29121657/hypertrophic-cardiomyopathy-clinical-phenotype-is-independent-of-gene-mutation-and-mutation-dosage
#10
Shiv Kumar Viswanathan, Heather K Sanders, James W McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A Jamil Tajik, Sakthivel Sadayappan
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding protein-C (MYBPC3) gene mutations with milder phenotype, incomplete penetrance and later age of onset. Compound mutations can worsen the phenotype. This study aimed to validate these comparative differences in a large cohort of individuals and families with HCM...
2017: PloS One
https://www.readbyqxmd.com/read/29021349/activation-of-autophagy-ameliorates-cardiomyopathy-in-mybpc3-targeted-knockin-mice
#11
Sonia R Singh, Antonia T L Zech, Birgit Geertz, Silke Reischmann-Düsener, Hanna Osinska, Maksymilian Prondzynski, Elisabeth Krämer, Qinghang Meng, Charles Redwood, Jolanda van der Velden, Jeffrey Robbins, Saskia Schlossarek, Lucie Carrier
BACKGROUND: Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of HCM cases. MYBPC3 , encoding cMyBP-C (cardiac myosin-binding protein C), is the most frequently mutated HCM gene. METHODS AND RESULTS: We evaluated autophagy in patients with HCM carrying MYBPC3 mutations and in a Mybpc3 -targeted knockin HCM mouse model, as well as the effect of autophagy modulators on the development of cardiomyopathy in knockin mice...
October 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28797094/whole-gene-sequencing-identifies-deep-intronic-variants-with-potential-functional-impact-in-patients-with-hypertrophic-cardiomyopathy
#12
Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes
BACKGROUND: High throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequencing analysis restricted to exons and exon-intron boundaries. OBJECTIVE: The aim of this study was to develop a whole-gene sequencing strategy to prioritize deep intronic variants that may play a role in HCM pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28794111/clinical-characteristics-and-long-term-outcome-of-hypertrophic-cardiomyopathy-in-individuals-with-a-mybpc3-myosin-binding-protein-c-founder-mutation
#13
Hannah G van Velzen, Arend F L Schinkel, Rogier A Oldenburg, Marjon A van Slegtenhorst, Ingrid M E Frohn-Mulder, Jolanda van der Velden, Michelle Michels
BACKGROUND: MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of MYBPC3 founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G-) HCM. METHODS AND RESULTS: The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G- probands with HCM. FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM after family screening, 74 FG+/phenotype-negative relatives, and 9 with noncompaction or dilated cardiomyopathy...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28750076/targeted-next-generation-sequencing-detects-novel-gene-phenotype-associations-and-expands-the-mutational-spectrum-in-cardiomyopathies
#14
Cinzia Forleo, Anna Maria D'Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and associated with rare mutations in a large number of genes, many of which overlap among the phenotypes. To better investigate the genetic overlap between these three phenotypes and to identify new genotype-phenotype correlations, we designed a custom gene panel consisting of 115 genes known to be associated with cardiomyopathic phenotypes and channelopathies...
2017: PloS One
https://www.readbyqxmd.com/read/28687478/factors-influencing-the-phenotypic-expression-of-hypertrophic-cardiomyopathy-in-genetic-carriers
#15
Inmaculada Pérez-Sánchez, Antonio José Romero-Puche, Esperanza García-Molina Sáez, María Sabater-Molina, José María López-Ayala, Carmen Muñoz-Esparza, David López-Cuenca, Gonzalo de la Morena, Francisco José Castro-García, Juan Ramón Gimeno-Blanes
INTRODUCTION AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM. METHODS: We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations...
March 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28624223/evaluation-of-mybpc3-trans-splicing-and-gene-replacement-as-therapeutic-options-in-human-ipsc-derived-cardiomyocytes
#16
Maksymilian Prondzynski, Elisabeth Krämer, Sandra D Laufer, Aya Shibamiya, Ole Pless, Frederik Flenner, Oliver J Müller, Julia Münch, Charles Redwood, Arne Hansen, Monica Patten, Thomas Eschenhagen, Giulia Mearini, Lucie Carrier
Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans-splicing, exon skipping, and gene replacement in a mouse model of hypertrophic cardiomyopathy (HCM) carrying a mutation in MYBPC3, encoding cardiac myosin-binding protein C (cMyBP-C). Here we used human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from an HCM patient carrying a heterozygous c.1358-1359insC MYBPC3 mutation and from a healthy donor. HCM hiPSC-CMs exhibited ∼50% lower MYBPC3 mRNA and cMyBP-C protein levels than control, no truncated cMyBP-C, larger cell size, and altered gene expression, thus reproducing human HCM features...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28538763/myosin-binding-protein-c-compound-heterozygous-variant-effect-on-the-phenotypic-expression-of-hypertrophic-cardiomyopathy
#17
Julianny Freitas Rafael, Fernando Eugênio Dos Santos Cruz, Antônio Carlos Campos de Carvalho, Ilan Gottlieb, José Guilherme Cazelli, Ana Paula Siciliano, Glauber Monteiro Dias
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression...
April 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28454798/the-design-of-the-valsartan-for-attenuating-disease-evolution-in-early-sarcomeric-hypertrophic-cardiomyopathy-vanish-trial
#18
RANDOMIZED CONTROLLED TRIAL
Carolyn Y Ho, John J V McMurray, Allison L Cirino, Steven D Colan, Sharlene M Day, Akshay S Desai, Steven E Lipshultz, Calum A MacRae, Ling Shi, Scott D Solomon, E John Orav, Eugene Braunwald
Hypertrophic cardiomyopathy (HCM) is often caused by sarcomere gene mutations, resulting in left ventricular hypertrophy (LVH), myocardial fibrosis, and increased risk of sudden cardiac death and heart failure. Studies in mouse models of sarcomeric HCM demonstrated that early treatment with an angiotensin receptor blocker (ARB) reduced development of LVH and fibrosis. In contrast, prior human studies using ARBs for HCM have targeted heterogeneous adult cohorts with well-established disease. The VANISH trial is testing the safety and feasibility of disease-modifying therapy with an ARB in genotyped HCM patients with early disease...
May 2017: American Heart Journal
https://www.readbyqxmd.com/read/28408782/assessment-of-regional-left-ventricular-systolic-function-by-strain-imaging-echocardiography-in-phenotypically-normal-and-abnormal-maine-coon-cats-tested-for-the-a31p-mutation-in-the-mybpc3-gene
#19
Arine Pellegrino, Alexandre G T Daniel, Guilherme G Pereira, Paula H Itikawa, Maria Helena M A Larsson
Myocardial dysfunction occurs in cats with hypertrophic cardiomyopathy (HCM), but little is known about the early stages of the disease. Strain imaging echocardiography is a method that enables the quantitative assessment of myocardial function and deformity, allowing the characterization of systolic dysfunction. The objective of this study was to assess systolic function using strain imaging echocardiography in Maine coon cats genetically tested for the A31P mutation in the MYBPC3 gene, with and without ventricular hypertrophy...
April 2017: Canadian Journal of Veterinary Research, Revue Canadienne de Recherche Vétérinaire
https://www.readbyqxmd.com/read/28393127/novel-junctophilin-2-mutation-a405s-is-associated-with-basal-septal-hypertrophy-and-diastolic-dysfunction
#20
Ann P Quick, Andrew P Landstrom, Qiongling Wang, David L Beavers, Julia O Reynolds, Giselle Barreto-Torres, Viet Tran, Jordan Showell, Leonne E Philippen, Shaine A Morris, Darlene Skapura, J Martijn Bos, Steen E Pedersen, Robia G Pautler, Michael J Ackerman, Xander H T Wehrens
BACKGROUND: Hypertrophic cardiomyopathy (HCM), defined as asymmetric left ventricular hypertrophy, is a leading cause of cardiac death in the young. Perturbations in calcium (Ca(2+)) handling proteins have been implicated in the pathogenesis of HCM. JPH2-encoded junctophilin 2 is a major component of the junctional membrane complex, the subcellular microdomain involved in excitation-contraction coupling. We hypothesized that a novel JPH2 mutation identified in patients with HCM is causally linked to HCM, and alters intracellular Ca(2+) signaling in a pro-hypertrophic manner...
February 2017: JACC. Basic to Translational Science
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