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Familial dilated cardiomyopathy

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https://www.readbyqxmd.com/read/28912206/clinical-yield-of-familial-screening-after-sudden-death-in-young-subjects-the-french-experience
#1
Pauline Quenin, Florence Kyndt, Philippe Mabo, Jacques Mansourati, Dominique Babuty, Aurélie Thollet, Béatrice Guyomarch, Richard Redon, Julien Barc, Jean-Jacques Schott, Frederic Sacher, Vincent Probst, Jean Baptiste Gourraud
BACKGROUND: After sudden cardiac death with negative autopsy, clinical screening of relatives identifies a high proportion of inherited arrhythmia syndrome. However, the efficacy of this screening in families not selected by autopsy has never been assessed. We aim to investigate the value of clinical screening in relatives of all subjects who died suddenly before 45 years of age. METHODS AND RESULTS: One hundred and three consecutive families who experienced unexplained sudden cardiac death before 45 years of age were included from May 2009 to December 2014 in a prospective multicenter registry...
September 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28912180/dilated-cardiomyopathy-genetic-determinants-and-mechanisms
#2
REVIEW
Elizabeth M McNally, Luisa Mestroni
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28911200/homozygous-eef1a2-mutation-causes-dilated-cardiomyopathy-failure-to-thrive-global-developmental-delay-epilepsy-and-early-death
#3
Siqi Cao, Laura L Smith, Sergio R Padilla-Lopez, Brandon S Guida, Elizabeth Blume, Jiahai Shi, Sarah U Morton, Catherine A Brownstein, Alan H Beggs, Michael C Kruer, Pankaj B Agrawal
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28902616/mef2c-loss-of-function-mutation-associated-with-familial-dilated-cardiomyopathy
#4
Fang Yuan, Zhao-Hui Qiu, Xing-Hua Wang, Yu-Min Sun, Jun Wang, Ruo-Gu Li, Hua Liu, Min Zhang, Hong-Yu Shi, Liang Zhao, Wei-Feng Jiang, Xu Liu, Xing-Biao Qiu, Xin-Kai Qu, Yi-Qing Yang
BACKGROUND: The MADS-box transcription factor myocyte enhancer factor 2C (MEF2C) is required for the cardiac development and postnatal adaptation and in mice-targeted disruption of the MEF2C gene results in dilated cardiomyopathy (DCM). However, in humans, the association of MEF2C variation with DCM remains to be investigated. METHODS: The coding regions and splicing boundaries of the MEF2C gene were sequenced in 172 unrelated patients with idiopathic DCM. The available close relatives of the index patient harboring an identified MEF2C mutation and 300 unrelated, ethnically matched healthy individuals used as controls were genotyped for MEF2C...
September 13, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28874395/celf1-mediates-connexin-43-mrna-degradation-in-dilated-cardiomyopathy
#5
Kuei-Ting Chang, Ching-Feng Cheng, Pei-Chih King, Shin-Yi Liu, Guey-Shin Wang
Rationale: Downregulation of connexin 43 (Cx43), the major cardiac gap junction protein, is often associated with arrhythmia, dilated cardiomyopathy (DCM) and heart failure. However, the cause of the reduced expression remains elusive. Re-induction of a nuclear RNA-binding protein CUGBP, Elav-like family member 1 (CELF1) in the adult heart has been implicated in the cardiac pathogenesis of myotonic dystrophy type 1 (DM1). However, how elevated CELF1 level leads to cardiac dysfunction, such as conduction defect, DCM and heart failure, remains unclear...
September 5, 2017: Circulation Research
https://www.readbyqxmd.com/read/28864942/a%C3%A2-dutch-myh7-founder-mutation-p-asn1918lys-is-associated-with-early-onset-cardiomyopathy-and-congenital-heart-defects
#6
I H M van der Linde, Y L Hiemstra, R Bökenkamp, A M van Mil, M H Breuning, C Ruivenkamp, S W Ten Broeke, R F Veldkamp, J I van Waning, M A van Slegtenhorst, K Y van Spaendonck-Zwarts, R H Lekanne Deprez, J C Herkert, L Boven, P A van der Zwaag, J D H Jongbloed, M Bootsma, D Q C M Barge-Schaapveld
BACKGROUND: Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. METHODS: In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members. RESULTS: Of the 80 carriers (age range 0-88 years), 46 (57.5%) had cardiomyopathy (mainly dilated cardiomyopathy (DCM)) and seven (8...
September 1, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28816949/whole-exome-sequencing-identifies-a-kcnj12-mutation-as-a-cause-of-familial-dilated-cardiomyopathy
#7
Hai-Xin Yuan, Kai Yan, Dong-Yan Hou, Zhi-Yong Zhang, Hua Wang, Xin Wang, Juan Zhang, Xiao-Rong Xu, Yan-Hong Liang, Wen-Shu Zhao, Lin Xu, Lin Zhang
Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation, and is associated with systolic dysfunction and increased action potential duration. Approximately 50% of DCM cases are caused by inherited gene mutations with genetic and phenotypic heterogeneity. Next generation sequencing may be useful in screening unknown mutations in such cases.A family was identified with DCM, in which the affected family members developed heart failure, arrhythmia, and sudden death. Probands and 4 affected family members underwent whole exome sequencing (WES), bioinformatics methods, and gene annotation to identify potentially causative variants...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28805231/the-histone-methyltransferase-mixed-lineage-leukemia-mll-3-may-play-a-potential-role-on-clinical-dilated-cardiomyopathy
#8
Ding-Sheng Jiang, Xin Yi, Rui Li, Yun-Shu Su, Jing Wang, Min-Lai Chen, Li-Gang Liu, Min Hu, Cai Cheng, Ping Zheng, Xue-Hai Zhu, Xiang Wei
Histone modifications play a critical role in the pathological processes of dilated cardiomyopathy (DCM). While the role and expression pattern of histone methyltransferases (HMTs), especially mixed lineage leukemia (MLL) families on DCM are unclear. To this end, twelve normal and fifteen DCM heart samples were included in the present study. A murine cardiac remodelling model was induced by transverse aortic constriction (TAC). Real-time PCR was performed to detect the expression levels of MLL families in the mouse and human left ventricles...
August 9, 2017: Molecular Medicine
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
#9
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/28793145/role-of-genetic-testing-in-inherited-cardiovascular-disease-a-review
#10
Allison L Cirino, Stephanie Harris, Neal K Lakdawala, Michelle Michels, Iacopo Olivotto, Sharlene M Day, Dominic J Abrams, Philippe Charron, Colleen Caleshu, Christopher Semsarian, Jodie Ingles, Harry Rakowski, Daniel P Judge, Carolyn Y Ho
Importance: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics...
August 9, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28790152/lamin-a-c-related-cardiac-disease-late-onset-with-a-variable-and-mild-phenotype-in-a-large-cohort-of-patients-with-the-lamin-a-c-p-arg331gln-founder-mutation
#11
Edgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, Florence H van Tienen, Gerard J Te Meerman, Joeri A Jansweijer, Anthonie J van Essen, Paul G Volders, Alina A Constantinescu, Peter C van den Akker, Karin Y van Spaendonck-Zwarts, Rogier A Oldenburg, Carlo L Marcelis, Jasper J van der Smagt, Eric A Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A Wilde, Arthur van den Wijngaard, Jos L Broers, Jan D Jongbloed, Jolanda van der Velden, Maarten P van den Berg, J Peter van Tintelen
BACKGROUND: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate the effect of this variant, we combined an evaluation of clinical data with functional experiments and morphological studies. METHODS AND RESULTS: Clinical data of 23 probands and 35 family members carrying this variant were retrospectively collected...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28776299/the-role-of-genetics-in-peripartum-cardiomyopathy
#12
REVIEW
Yi Zhen Joan Lee, Daniel P Judge
Peripartum cardiomyopathy (PPCM) is an uncommon complication of pregnancy. Early case reports identified overlap between familial dilated cardiomyopathy (DCM) and PPCM, although the degree of overlap is largely unknown. Other evidence supporting a contribution from gene mutations in PPCM includes familial occurrence, genome-wide association studies, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. Murine models implicate the role of altered metabolism and increased free radical stress to the heart during pregnancy, which seems to be involved in the pathogenesis of this condition...
August 3, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28772054/heart-failure-is-associated-with-depletion-of-core-intestinal-microbiota
#13
Mark Luedde, Thorben Winkler, Femke-Anouska Heinsen, Malte C Rühlemann, Martina E Spehlmann, Amer Bajrovic, Wolfgang Lieb, Andre Franke, Stephan J Ott, Norbert Frey
AIMS: In spite of current medical treatment approaches, mortality of chronic heart failure (HF) remains high and novel treatment modalities are thus urgently needed. A recent theory proposes a possible impact of the intestinal microbiome on the incidence and clinical course of heart failure. This study sought to systematically investigate, if there are specific changes of the intestinal microbiome in heart failure patients. METHODS AND RESULTS: The intestinal microbiome of 20 patients with heart failure with reduced ejection fraction due to ischemic or dilated cardiomyopathy was investigated by applying high-throughput sequencing of the bacterial 16S rRNA gene...
August 2017: ESC Heart Failure
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/28732641/the-cardiomyopathy-associated-k15n-mutation-in-tropomyosin-alters-actin-filament-pointed-end-dynamics
#15
Mert Colpan, Thu Ly, Samantha Grover, Dmitri Tolkatchev, Alla S Kostyukova
Correct assembly of thin filaments composed of actin and actin-binding proteins is of crucial importance for properly functioning muscle cells. Tropomyosin (Tpm) mediates the binding of tropomodulin (Tmod) and leiomodin (Lmod) at the slow-growing, or pointed, ends of the thin filaments. Together these proteins regulate thin filament lengths and actin dynamics in cardiac muscle. The K15N mutation in the TPM1 gene is associated with familial dilated cardiomyopathy (DCM) but the effect of this mutation on Tpm's function is unknown...
September 15, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28724793/a-bag3-chaperone-complex-maintains-cardiomyocyte-function-during-proteotoxic-stress
#16
Luke M Judge, Juan A Perez-Bermejo, Annie Truong, Alexandre Js Ribeiro, Jennie C Yoo, Christina L Jensen, Mohammad A Mandegar, Nathaniel Huebsch, Robyn M Kaake, Po-Lin So, Deepak Srivastava, Beth L Pruitt, Nevan J Krogan, Bruce R Conklin
Molecular chaperones regulate quality control in the human proteome, pathways that have been implicated in many diseases, including heart failure. Mutations in the BAG3 gene, which encodes a co-chaperone protein, have been associated with heart failure due to both inherited and sporadic dilated cardiomyopathy. Familial BAG3 mutations are autosomal dominant and frequently cause truncation of the coding sequence, suggesting a heterozygous loss-of-function mechanism. However, heterozygous knockout of the murine BAG3 gene did not cause a detectable phenotype...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28716623/a-second-truncation-in-ttn-causes-early-onset-recessive-muscular-dystrophy
#17
Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub
Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing. We undertook whole exome sequencing in four individuals with LGMD...
June 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28690296/prevalence-and-spectrum-of-nkx2-5-mutations-associated-with-sporadic-adult-onset-dilated-cardiomyopathy
#18
Jia-Hong Xu, Jian-Yun Gu, Yu-Han Guo, Hong Zhang, Xing-Biao Qiu, Ruo-Gu Li, Hong-Yu Shi, Hua Liu, Xiao-Xiao Yang, Ying-Jia Xu, Xin-Kai Qu, Yi-Qing Yang
Dilated cardiomyopathy (DCM), the most common form of primary myocardial disease, is a leading cause of congestive heart failure and the most common indication for heart transplantation. Recently, NKX2-5 mutations have been involved in the pathogenesis of familial DCM. However, the prevalence and spectrum of NKX2-5 mutations associated with sporadic DCM remain to be evaluated. In this study, the coding regions and flanking introns of the NKX2-5 gene, which encodes a cardiac transcription factor pivotal for cardiac development and structural remodeling, were sequenced in 210 unrelated patients with sporadic adult-onset DCM...
August 3, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28669108/novel-genetic-variants-in-bag3-and-tnnt2-in-a-swedish-family-with-a-history-of-dilated-cardiomyopathy-and-sudden-cardiac-death
#19
Eva Fernlund, A Wålinder Österberg, E Kuchinskaya, M Gustafsson, K Jansson, C Gunnarsson
Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed initially from the deceased girl using next-generation sequencing including 50 genes involved in cardiomyopathy...
August 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28663758/lmna-sequences-of-60-706-unrelated-individuals-reveal-132-novel-missense-variants-in-a-type-lamins-and-suggest-a-link-between-variant-p-g602s-and-type-2-diabetes
#20
Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L Wilson
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases ('laminopathies') including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and progeria. To assess the prevalence of LMNA missense mutations ('variants') in a broad, ethnically diverse population, we compared missense alleles found among 60,706 unrelated individuals in the ExAC cohort to those identified in 1,404 individuals in the laminopathy database (UMD-LMNA)...
2017: Frontiers in Genetics
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