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Genetic cardiomyopathies

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https://www.readbyqxmd.com/read/28228157/genetics-and-genomics-of-dilated-cardiomyopathy-and-systolic-heart-failure
#1
REVIEW
Upasana Tayal, Sanjay Prasad, Stuart A Cook
Heart failure is a major health burden, affecting 40 million people globally. One of the main causes of systolic heart failure is dilated cardiomyopathy (DCM), the leading global indication for heart transplantation. Our understanding of the genetic basis of both DCM and systolic heart failure has improved in recent years with the application of next-generation sequencing and genome-wide association studies (GWAS). This has enabled rapid sequencing at scale, leading to the discovery of many novel rare variants in DCM and of common variants in both systolic heart failure and DCM...
February 22, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#2
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28215516/aisf-position-paper-on-nonalcoholic-fatty-liver-disease-nafld-updates-and-future-directions
#3
Amedeo Lonardo, Fabio Nascimbeni, Giovanni Targher, Mauro Bernardi, Ferruccio Bonino, Elisabetta Bugianesi, Alessandro Casini, Amalia Gastaldelli, Giulio Marchesini, Fabio Marra, Luca Miele, Filomena Morisco, Salvatore Petta, Fabio Piscaglia, Gianluca Svegliati-Baroni, Luca Valenti, Stefano Bellentani
This review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic "hits". The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (primary liver cancers and extra-hepatic cancers)...
January 23, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28214155/genetic-tests-in-the-assessment-of-patients-and-at-risk-relatives-the-example-of-hypertrophic-cardiomyopathy
#4
Jorge Manuel Saraiva
No abstract text is available yet for this article.
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28214152/clinical-and-genetic-diagnosis-of-familial-hypertrophic-cardiomyopathy-results-in-pediatric-cardiology
#5
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/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#6
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28203206/mild-and-short-term-caloric-restriction-prevents-obesity-induced-cardiomyopathy-in-young-zucker-rats-without-changing-in-metabolites-and-fatty-acids-cardiac-profile
#7
Gema Ruiz-Hurtado, Concha F García-Prieto, Helena Pulido-Olmo, Juan P Velasco-Martín, Palmira Villa-Valverde, María E Fernández-Valle, Lisardo Boscá, María Fernández-Velasco, Javier Regadera, Beatriz Somoza, María S Fernández-Alfonso
Caloric restriction (CR) ameliorates cardiac dysfunction associated with obesity. However, most of the studies have been performed under severe CR (30-65% caloric intake decrease) for several months or even years in aged animals. Here, we investigated whether mild (20% food intake reduction) and short-term (2-weeks) CR prevented the obese cardiomyopathy phenotype and improved the metabolic profile of young (14 weeks of age) genetically obese Zucker fa/fa rats. Heart weight (HW) and HW/tibia length ratio was significantly lower in fa/fa rats after 2 weeks of CR than in counterparts fed ad libitum...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28202948/identification-of-pathogenic-variants-in-genes-related-to-channelopathy-and-cardiomyopathy-in-korean-sudden-cardiac-arrest-survivors
#8
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-Jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki, Young Keun On
Pathogenic variants in genes related to channelopathy and cardiomyopathy are the most common cause of sudden unexplained cardiac death. However, few reports have investigated the frequency and/or spectrum of pathogenic variants in these genes in Korean sudden cardiac arrest survivors. This study aimed to investigate the causative genetic variants of cardiac-associated genes in Korean sudden cardiac arrest survivors. We performed exome sequencing followed by filtering and validation of variants in 100 genes related to channelopathy and cardiomyopathy in 19 Korean patients who survived sudden cardiac arrest...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28195132/analysis-of-craniocardiac-malformations-in-xenopus-using-optical-coherence-tomography
#9
Engin Deniz, Stephan Jonas, Michael Hooper, John N Griffin, Michael A Choma, Mustafa K Khokha
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28194437/mitochondrial-quality-control-dysregulation-in-conditional-ho-1-mice
#10
Hagir B Suliman, Jeffrey E Keenan, Claude A Piantadosi
The heme oxygenase-1 (Hmox1; HO-1) pathway was tested for defense of mitochondrial quality control in cardiomyocyte-specific Hmox1 KO mice (HO-1[CM](-/-)) exposed to oxidative stress (100% O2). After 48 hours of exposure, these mice showed persistent cardiac inflammation and oxidative tissue damage that caused sarcomeric disruption, cardiomyocyte death, left ventricular dysfunction, and cardiomyopathy, while control hearts showed minimal damage. After hyperoxia, HO-1(CM)(-/-) hearts showed suppression of the Pgc-1α/nuclear respiratory factor-1 (NRF-1) axis, swelling, low electron density mitochondria by electron microscopy (EM), increased cell death, and extensive collagen deposition...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28193612/lack-of-phenotypic-differences-by-cardiovascular-magnetic-resonance-imaging-in-myh7-%C3%AE-myosin-heavy-chain-versus-mybpc3-myosin-binding-protein-c-related-hypertrophic-cardiomyopathy
#11
Adaya Weissler-Snir, Waseem Hindieh, Christiane Gruner, Dana Fourey, Evan Appelbaum, Ethan Rowin, Melanie Care, John R Lesser, Tammy S Haas, James E Udelson, Warren J Manning, Iacopo Olivotto, Benedetta Tomberli, Barry J Maron, Martin S Maron, Andrew M Crean, Harry Rakowski, Raymond H Chan
BACKGROUND: The 2 most commonly affected genes in hypertrophic cardiomyopathy (HCM) are MYH7 (β-myosin heavy chain) and MYBPC3 (β-myosin-binding protein C). Phenotypic differences between patients with mutations in these 2 genes have been inconsistent. Scarce data exist on the genotype-phenotype association as assessed by tomographic imaging using cardiac magnetic resonance imaging. METHODS AND RESULTS: Cardiac magnetic resonance imaging was performed on 358 consecutive genotyped hypertrophic cardiomyopathy probands at 5 tertiary hypertrophic cardiomyopathy centers...
February 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28190577/dilated-cardiomyopathy
#12
REVIEW
Robert G Weintraub, Christopher Semsarian, Peter Macdonald
Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal, sarcomere, and nuclear envelope proteins, among others, account for up to 35% of cases. Acquired causes include myocarditis and exposure to alcohol, drugs and toxins, and metabolic and endocrine disturbances. The most common presenting symptoms relate to congestive heart failure, but can also include circulatory collapse, arrhythmias, and thromboembolic events...
February 9, 2017: Lancet
https://www.readbyqxmd.com/read/28183324/identification-of-taz-mutations-in-pediatric-patients-with-cardiomyopathy-by-targeted-next-generation-sequencing-in-a-chinese-cohort
#13
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28174390/-surgical-regeneration-therapy-using-myoblast-sheets-for-severe-heart-failure
#14
Yoshiki Sawa
Heart failure is a life-threatening disorder worldwide, and the current end-stage therapies for severe heart failure are replacement therapies such as ventricular-assist devices and heart transplantation. Although these therapies have been reported to be useful, there are many issues in terms of the durability, complications, limited donors, adverse effect of continuous administration of immunosuppressive agents, and high costs involved. Recently, regenerative therapy based on genetic, cellular, or tissue engineering techniques has gained attention as a new therapy to overcome the challenges encountered in transplantation medicine...
January 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28171858/exome-sequencing-identifies-a-novel-des-mutation-r227c-in-a-chinese-dilated-cardiomyopathy-family
#15
Rong Yu, Lv Liu, Chan Chen, Jin-Mei Shen
OBJECTIVES: Dilated cardiomyopathy (DCM) is a common disease in the clinic, and it is the leading cause of heart failure and sudden cardiac death. Previous studies have proven that genetic factors play a crucial role in the occurrence of DCM; more than 50 disease genes including desmin (DES) have been identified to be associated with DCM. At present, most DES mutations are reported in desmin-related myofibrilla myopathy patients, but variants leading to isolated DCM are rarely reported...
February 8, 2017: Cardiology
https://www.readbyqxmd.com/read/28170191/metabolomic-profiling-of-pompe-disease-induced-pluripotent-stem-cell-derived-cardiomyocytes-reveals-that-oxidative-stress-is-associated-with-cardiac-and-skeletal-muscle-pathology
#16
Yohei Sato, Hiroshi Kobayashi, Takashi Higuchi, Yohta Shimada, Hiroyuki Ida, Toya Ohashi
Pompe disease (PD) is a lysosomal storage disease that is caused by a deficiency of the acid α-glucosidase, which results in glycogen accumulation in the lysosome. The major clinical symptoms of PD include skeletal muscle weakness, respiratory failure, and cardiac hypertrophy. Based on its severity and symptom onset, PD is classified into infantile and late-onset forms. Lysosomal accumulation of glycogen can promote many types of cellular dysfunction, such as autophagic dysfunction, endoplasmic reticulum stress, and abnormal calcium signaling within skeletal muscle...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28163434/aortic-and-pulmonary-artery-calcification-an-unusual-manifestation-of-twin-to-twin-transfusion-syndrome
#17
Sumitra Venkatesh, J Sanyukta, S Jain, S S Prabhu, S Kulkarni
Twin-to-twin transfusion syndrome (TTTS) at times complicates monochorionic twin gestations, resulting in conditions ranging from discordant sizes to fetal demise of one baby. Various types of cardiac defects have been described in the recipient twin of this syndrome. Isolated great artery calcification, i.e. aortic and pulmonary artery calcification is one such uncommon condition associated with TTTS. Calcification of the walls of great vessels may be due to chronic vascular injury sustained as a result of circulatory volume overload in the recipient twin...
January 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28152524/tafamidis-for-the-treatment-of-hereditary-transthyretin-amyloid-cardiomyopathy-a-case-report
#18
Teppei Fujita, Takayuki Inomata, Toyoji Kaida, Yuichirou Iida, Yuki Ikeda, Takeru Nabeta, Shunsuke Ishii, Emi Maekawa, Takashi Naruke, Toshimi Koitabashi, Eiji Kitamura, Yoshiki Sekijima, Junya Ako
Tafamidis meglumine is a novel medicine that has been shown to slow the progression of peripheral neurological impairment in patients with hereditary transthyretin amyloidosis (ATTR). However, the efficacy of tafamidis against ATTR-related cardiac amyloidosis remains unclear. A 72-year-old woman had cardiac hypertrophy and axonopathy in her lower legs. Endomyocardial biopsy revealed an infiltrative cardiomyopathy consistent with amyloidosis. Immunostaining and genetic studies confirmed the diagnosis of ATTR, and tafamidis was started subsequently...
February 3, 2017: Cardiology
https://www.readbyqxmd.com/read/28152038/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels
#19
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference...
2017: PloS One
https://www.readbyqxmd.com/read/28151760/titin-truncating-mutations-in-dilated-cardiomyopathy-the-long-and-short-of-it
#20
Diane Fatkin, Inken G Huttner
PURPOSE OF REVIEW: Truncating variants in the TTN gene (TTNtv) are frequently identified in patients with dilated cardiomyopathy (DCM) but are also present in apparently healthy people in the general population. Consequently, there is considerable uncertainty about what it means for any single individual if a TTNtv is found. The aim of this review is to summarize current evidence implicating TTNtv in DCM pathogenesis and to provide some interpretative guidelines for clinical management...
February 1, 2017: Current Opinion in Cardiology
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