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Genetic cardiomyopathy

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https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#1
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430962/ulk1-prevents-cardiac-dysfunction-in-obesity-through-autophagy-meditated-regulation-of-lipid-metabolism
#2
Minae An, Dong-Ryeol Ryu, Jang Won Park, Ji Ha Choi, Eun-Mi Park, Kyung Eun Lee, Minna Woo, Minsuk Kim
Aims: Autophagy is essential to maintain tissue homeostasis, particularly in long-lived cells such as cardiomyocytes. Whereas many studies support the importance of autophagy in the mechanisms underlying obesity-related cardiac dysfunction, the role of autophagy in cardiac lipid metabolism remains unclear. In the heart, lipotoxicity is exacerbated by cardiac lipoprotein lipase (LPL), which mediates accumulation of fatty acids to the heart through intravascular triglyceride (TG) hydrolysis...
April 17, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28427417/novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#3
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical assessments. DNAs were extracted from peripheral blood leukocytes for genetic screening with next generation method...
April 20, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28425041/familial-amyloid-cardiomyopathy-masquerading-as-chronic-guillain-barre-syndrome-things-are-not-always-what-they-seem
#4
Die Hu, Ling Liu, Shuguang Yuan, Yuhong Yi, Daoquan Peng
Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium...
April 19, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28420666/prevalence-and-clinical-implication-of-double-mutations-in-hypertrophic-cardiomyopathy-revisiting-the-gene-dose-effect
#5
Dana Fourey, Melanie Care, Katherine A Siminovitch, Adaya Weissler-Snir, Waseem Hindieh, Raymond H Chan, Michael H Gollob, Harry Rakowski, Arnon Adler
BACKGROUND: Available data suggests that double mutations in patients with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype. Most of this data, however, is based on noncontemporary variant classification. METHODS AND RESULTS: Clinical data of all hypertrophic cardiomyopathy patients with 2 rare genetic variants were retrospectively reviewed and compared with a group of patients with a single disease-causing variant. Furthermore, a literature search was performed for all studies with information on prevalence and outcome of patients with double mutations...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28420138/adjustment-of-dysregulated-ceramide-metabolism-in-a-murine-model-of-sepsis-induced-cardiac-dysfunction
#6
Ha-Yeun Chung, Anna S Kollmey, Andrea Schrepper, Matthias Kohl, Markus F Bläss, Sebastian N Stehr, Amelie Lupp, Markus H Gräler, Ralf A Claus
Cardiac dysfunction, in particular of the left ventricle, is a common and early event in sepsis, and is strongly associated with an increase in patients' mortality. Acid sphingomyelinase (SMPD1)-the principal regulator for rapid and transient generation of the lipid mediator ceramide-is involved in both the regulation of host response in sepsis as well as in the pathogenesis of chronic heart failure. This study determined the degree and the potential role to which SMPD1 and its modulation affect sepsis-induced cardiomyopathy using both genetically deficient and pharmacologically-treated animals in a polymicrobial sepsis model...
April 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28416588/association-between-mutation-status-and-left-ventricular-reverse-remodelling-in-dilated-cardiomyopathy
#7
Matteo Dal Ferro, Davide Stolfo, Alessandro Altinier, Marta Gigli, Martina Perrieri, Federica Ramani, Giulia Barbati, Alberto Pivetta, Francesca Brun, Lorenzo Monserrat, Mauro Giacca, Luisa Mestroni, Marco Merlo, Gianfranco Sinagra
OBJECTIVE: To explore the genetic landscape of a well selected dilated cardiomyopathy (DCM) cohort, assessing the possible relation between different genotypes and left ventricular reverse remodelling (LVRR). METHODS: A cohort of 152 patients with DCM from the Heart Muscle Disease Registry of Trieste has been studied by next-generation sequencing (NGS). Patients were grouped into different 'gene-clusters' with functionally homogeneous genetic backgrounds. LVRR was defined by left ventricular ejection fraction normalisation or increase ≥10% associated with normalisation in indexed left ventricular end-diastolic diameter or relative decrease ≥10% at 24 months follow-up...
April 17, 2017: Heart: Official Journal of the British Cardiac Society
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
#8
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/28408708/nonfamilial-hypertrophic-cardiomyopathy-prevalence-natural-history-and-clinical-implications
#9
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll, Christopher Semsarian
BACKGROUND: Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM. METHODS AND RESULTS: Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#10
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28401079/mutation-in-%C3%AE-sg-gene-in-familial-dilated-cardiomyopathy
#11
Marzieh Asadi, Roger Foo, Ahmad Reza Salehi, Rasoul Salehi, Mohammad Reza Samienasab
BACKGROUND: Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The δ-SG gene contains nine exons spanning a 433-kb region of genomic DNA. It encodes a 35-kDa, singlepass, and type II transmembrane glycoprotein. MATERIALS AND METHODS: In this study for the first time in Iran we screened 6 patients of a large family that they had positive family history of MI or sudden death by next generation sequencing method...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28396031/penetrance-of-hypertrophic-cardiomyopathy-in-children-who-are-mutation-positive
#12
Alexa M C Vermeer, Sally-Ann B Clur, Nico A Blom, Arthur A M Wilde, Imke Christiaans
OBJECTIVES: To investigate the presence of hypertrophic cardiomyopathy (HCM) at first cardiac evaluation and during follow-up and cardiac events in predictively tested children who are mutation positive. STUDY DESIGN: The study included 119 predictively tested children who were mutation positive, with a mean age of 12.1 years. A family history and clinical variables from all cardiac evaluations after predictive genetic testing were recorded. Outcome measures were a clinical diagnosis of HCM, death, and cardiac events...
April 7, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28395744/peripheral-blood-derived-induced-pluripotent-stem-cells-ipscs-from-a-female-with-familial-hypertrophic-cardiomyopathy
#13
Samantha Barratt Ross, Stuart T Fraser, Richard D Bagnall, Christopher Semsarian
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 62-year-old female with familial hypertrophic cardiomyopathy (HCM). PBMCs were reprogrammed to a pluripotent state following transfection with non-integrative episomal vectors carrying reprogramming factors OCT4, SOX2, LIN28, KLF4 and L-MYC. iPSCs were shown to express pluripotency markers, possess trilineage differentiation potential, carry rare variants identified in DNA isolated directly from the patient's whole blood, have a normal karyotype and no longer carry episomal vectors for reprogramming...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395030/clinical-features-molecular-heterogeneity-and-prognostic-implications-in-yars2-related-mitochondrial-myopathy
#14
Ewen W Sommerville, Yi Shiau Ng, Charlotte L Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L Chin, Andrew M Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A Bindoff, John M Rawles, John C S Dean, Richard K Petty, Maria E Farrugia, Tobias B Haack, Holger Prokisch, Robert McFarland, Douglass M Turnbull, Claudia Donnini, Robert W Taylor, Gráinne S Gorman
Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant. Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature...
April 10, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28395011/metabolism-in-cardiomyopathy-every-substrate-matters
#15
Julia Ritterhoff, Rong Tian
Cardiac metabolism is highly adaptive to changes in fuel availability and the energy demand of the heart. This metabolic flexibility is key for the heart to maintain its output during the development and in response to stress. Alterations in substrate preference have been observed in multiple disease states; a clear understanding of their impact on cardiac function in the long term is critical for the development of metabolic therapies. In addition, the contribution of cellular metabolism to growth, survival, and other signalling pathways through the generation of metabolic intermediates has been increasingly noted, adding another layer of complexity to the impact of metabolism on cardiac function...
March 15, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28394420/tiron-ameliorates-high-glucose-induced-cardiac-myocyte-apoptosis-by-pkc%C3%AE-dependent-inhibition-of-osteopontin
#16
Ping Jiang, Deling Zhang, Hong Qiu, Xianqi Yi, Yemin Zhang, Yingkang Cao, Bo Zhao, Zhongyuan Xia, Changhua Wang
Tiron functions as an effective antioxidant alleviating the intracellular reactive oxygen species (ROS) or the acute toxic metal overload. The previous studies have shown that cardiac myocyte apoptosis can be effectively inhibited by tiron administration in streptozotocin (STZ)-induced diabetic rats, primary neonatal rat cardiomyocytes (NRVMs), and H9c2 embryonic rat cardiomyocytes. However, the underlying signaling mechanism is ill-defined. In the present study, we found that tiron supplementation significantly inhibited apoptosis of high glucose (HG)-treated NRVMs and the left ventricular cardiomyocytes from STZ-diabetic rat, accompanied with a reduction of osteopontin (OPN) levels as well as an inhibition of PKCδ phosphorylation...
April 10, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28393127/novel-junctophilin-2-mutation-a405s-is-associated-with-basal-septal-hypertrophy-and-diastolic-dysfunction
#17
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
https://www.readbyqxmd.com/read/28391581/contribution-of-mitral-valve-leaflet-length-and-septal-wall-thickness-to-outflow-tract-obstruction-in-patients-with-hypertrophic-cardiomyopathy
#18
Kareem Morant, Yoko Mikami, Immaculate Nevis, David McCarty, John Stirrat, David Scholl, Martin Rajchl, Peter Giannoccaro, Louis Kolman, Bobby Heydari, Carmen Lydell, Andrew Howarth, Andrew Grant, James A White
We sought to examine whether elongation of the mitral valve leaflets in patients with hypertrophic cardiomyopathy (HCM) is synergistic to septal wall thickness (SWT) in the development of left ventricular outflow tract obstruction (LVOTO). HCM is a common genetic cardiac disease characterized by asymmetric septal hypertrophy and predisposition towards LVOTO. It has been reported that elongation of the mitral valve leaflets may be a primary phenotypic feature and contribute to LVOTO. However, the relative contribution of this finding versus SWT has not been studied...
April 8, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28391114/genotype-phenotype-dilemma-in-a-case-of-sudden-cardiac-death-with-the-e1053k-mutation-and-a-deletion-in-the-scn5a-gene
#19
T Jenewein, B M Beckmann, S Rose, H H Osterhues, U Schmidt, C Wolpert, P Miny, C Marschall, M Alders, C R Bezzina, A A M Wilde, S Kääb, S Kauferstein
Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM). In most of these inherited cardiac arrhythmia syndromes the phenotypical expression may range from asymptomatic phenotypes to sudden cardiac death (SCD). A 16-year-old female died during sleep. Autopsy did not reveal any explanation for her death and a genetic analysis was performed...
March 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28382084/diverse-phenotypic-expression-of-cardiomyopathies-in-a-family-with-tnni3-p-arg145trp-mutation
#20
Ji-Won Hwang, Mi-Ae Jang, Shin Yi Jang, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Chang-Seok Ki, Duk-Kyung Kim
Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. The proband was a 57-year-old female with HCMP. Examining the family history revealed that her elder sister had expired due to severe RCMP...
March 2017: Korean Circulation Journal
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