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Familial dilated cardiomyopathy

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https://www.readbyqxmd.com/read/29305677/coupling-interval-variability-of-premature-ventricular-contractions-in-patients-with-different-underlying-pathology-an-insight-into-the-arrhythmia-mechanism
#1
Lennart J de Vries, Mihran Martirosyan, Ron T van Domburg, Sip A Wijchers, Tamas Géczy, Tamas Szili-Torok
PURPOSE: Coupling interval (CI) variability of premature ventricular contractions (PVCs) is influenced by the underlying arrhythmia mechanism. The aim of this study was to compare CI variability of PVCs in different myocardial disease entities, in order to gain insight into their arrhythmia mechanism. METHODS: Sixty-four patients with four underlying pathologies were included: idiopathic (n = 16), non-ischemic dilated cardiomyopathy (NIDCM) (n = 16), familial cardiomyopathy (PLN/LMNA) (n = 16), and post-MI (n = 16)-associated PVCs...
January 5, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29243008/examining-the-psychosocial-impact-of-genetic-testing-for-cardiomyopathies
#2
Julia Wynn, David T Holland, Jimmy Duong, Priyanka Ahimaz, Wendy K Chung
Inherited cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), are the most common monogenic cause of cardiac disease and can rarely lead to sudden cardiac death (SCD). They are characterized by incomplete and age-dependent penetrance and are usually initially symptomatic in adulthood yet can present in childhood as well. Over 20 genes have been identified to cause HCM, and more than 40 genes are known to cause DCM. Genetic testing for these genes has been integrated into medical care; however, the psychological impact of genetic testing and the impact of the uncertainty that comes with receiving these results have not been well studied...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29238064/role-of-titin-in-cardiomyopathy-from-dna-variants-to-patient-stratification
#3
REVIEW
James S Ware, Stuart A Cook
Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading indication for heart transplantation. DCM is often familial, and the most common genetic predisposition is a truncating variation in the giant sarcomeric protein, titin, which occurs in up to 15% of ambulant patients with DCM and 25% of end-stage or familial cases. In this article, we review the evidence for the role of titin truncation in the pathogenesis of DCM and our understanding of the molecular mechanisms and pathophysiological consequences of variation in the gene encoding titin (TTN)...
December 14, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29237686/toward-genetics-driven-early-intervention-in-dilated-cardiomyopathy-design-and-implementation-of-the-dcm-precision-medicine-study
#4
REVIEW
Daniel D Kinnamon, Ana Morales, Deborah J Bowen, Wylie Burke, Ray E Hershberger
BACKGROUND: The cause of idiopathic dilated cardiomyopathy (DCM) is unknown by definition, but its familial subtype is considered to have a genetic component. We hypothesize that most idiopathic DCM, whether familial or nonfamilial, has a genetic basis, in which case a genetics-driven approach to identifying at-risk family members for clinical screening and early intervention could reduce morbidity and mortality. METHODS: On the basis of this hypothesis, we have launched the National Heart, Lung, and Blood Institute- and National Human Genome Research Institute-funded DCM Precision Medicine Study, which aims to enroll 1300 individuals (600 non-Hispanic African ancestry, 600 non-Hispanic European ancestry, and 100 Hispanic) who meet rigorous clinical criteria for idiopathic DCM along with 2600 of their relatives...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237675/gene-based-risk-stratification-for-cardiac-disorders-in-lmna-mutation-carriers
#5
Suguru Nishiuchi, Takeru Makiyama, Takeshi Aiba, Kenzaburo Nakajima, Sayako Hirose, Hirohiko Kohjitani, Yuta Yamamoto, Takeshi Harita, Mamoru Hayano, Yimin Wuriyanghai, Jiarong Chen, Kenichi Sasaki, Nobue Yagihara, Taisuke Ishikawa, Kenji Onoue, Nobuyuki Murakoshi, Ichiro Watanabe, Kimie Ohkubo, Hiroshi Watanabe, Seiko Ohno, Takahiro Doi, Satoshi Shizuta, Tohru Minamino, Yoshihiko Saito, Yasushi Oginosawa, Akihiko Nogami, Kazutaka Aonuma, Kengo Kusano, Naomasa Makita, Wataru Shimizu, Minoru Horie, Takeshi Kimura
BACKGROUND: Mutations in LMNA (lamin A/C), which encodes lamin A and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac conduction disturbance, atrial fibrillation, and malignant ventricular arrhythmias. Although the type of LMNA mutations have been reported to be associated with susceptibility to malignant ventricular arrhythmias, the gene-based risk stratification for cardiac complications remains unexplored. METHODS AND RESULTS: The multicenter cohort included 77 LMNA mutation carriers from 45 families; cardiac disorders were retrospectively analyzed...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29235529/identification-of-mylk3-mutations-in-familial-dilated-cardiomyopathy
#6
Takashige Tobita, Seitaro Nomura, Hiroyuki Morita, Toshiyuki Ko, Takanori Fujita, Haruhiro Toko, Kenta Uto, Nobuhisa Hagiwara, Hiroyuki Aburatani, Issei Komuro
Dilated cardiomyopathy (DCM) is a primary cause of heart failure, life-threatening arrhythmias, and cardiac death. Pathogenic mutations have been identified at the loci of more than 50 genes in approximately 50% of DCM cases, while the etiologies of the remainder have yet to be determined. In this study, we applied whole exome sequencing in combination with segregation analysis to one pedigree with familial DCM, and identified a read-through mutation (c.2459 A > C; p.*820Sext*19) in the myosin light chain kinase 3 gene (MYLK3)...
December 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29224255/the-highest-mortality-rates-in-childhood-dilated-cardiomyopathy-occur-during-the-first-year-after-diagnosis
#7
Shalan Fadl, Håkan Wåhlander, Katja Fall, Yang Cao, Jan Sunnegårdh
AIM: The aim of the study was to assess the incidence, mortality and morbidity of dilated cardiomyopathy (DCM) and non-compaction of the left ventricle (LVNC) in Swedish children. METHODS: We reviewed hospital records of all children with dilated cardiomyopathy (DCM) or left ventricular non-compaction cardiomyopathy (LVNC) up to the age of 18 in the healthcare region of western Sweden from 1991 to 2015. RESULTS: In total, 69 cases (61% males) were identified...
December 9, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29208631/the-drosophila-junctophilin-gene-is-functionally-equivalent-to-its-four-mammalian-counterparts-and-is-a-modifier-of-a-huntingtin-poly-q-expansion-and-the-notch-pathway
#8
Eduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, Beatriz Llamusí, Rubén Artero, Carmen Espinós, Máximo I Galindo
Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells with critical implications for human pathophysiology. In mammals this family consists in four members (JPH1-4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles, and neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in CMT2K peripheral neuropathy...
November 20, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29188317/genetic-testing-in-pediatric-cardiomyopathy
#9
Chalani D Ellepola, Linda M Knight, Peter Fischbach, Shriprasad R Deshpande
Genetic testing is recommended in patients with dilated cardiomyopathy (DCM); however, limited studies demonstrate high yields of genetic testing in non-hypertrophic (HCM) patients. Furthermore, there is sparse genotype-phenotype data in pediatric DCM patients. We performed a retrospective review of 70 consecutive probands with cardiomyopathy (non-HCM) who underwent genetic evaluation. Mean age at presentation was 5.48 years. Echocardiography revealed mean ejection fraction of 32.4%. The LVEDd z score ranged from - 5...
November 29, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29175975/lamin-and-the-heart
#10
REVIEW
Gabriella Captur, Eloisa Arbustini, Gisèle Bonne, Petros Syrris, Kevin Mills, Karim Wahbi, Saidi A Mohiddin, William J McKenna, Stephen Pettit, Carolyn Y Ho, Antoine Muchir, Paul Gissen, Perry M Elliott, James C Moon
Lamins A and C are intermediate filament nuclear envelope proteins encoded by the LMNA gene. Mutations in LMNA cause autosomal dominant severe heart disease, accounting for 10% of dilated cardiomyopathy (DCM). Characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is more malignant than other common DCMs due to high event rates even when the left ventricular impairment is mild. It has several phenotypic mimics, but overall it is likely to be an under-recognised cause of DCM...
November 25, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29173404/sudden-cardiac-death-in-genetic-cardiomyopathies
#11
REVIEW
Gourg Atteya, Rachel Lampert
Sudden cardiac death (SCD) caused by ventricular arrhythmias is common in patients with genetic cardiomyopathies (CMs) including dilated CM, hypertrophic CM, and arrhythmogenic right ventricular CM (ARVC). Phenotypic features can identify individuals at high enough risk to warrant placement of an implantable cardioverter-defibrillator, although risk stratification schemes remain imperfect. Genetic testing is valuable for family cascade screening but with few exceptions (eg, LMNA mutations) do not identify higher risk for SCD...
December 2017: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29170849/myh7-mutation-associated-with-two-phenotypes-of-myopathy
#12
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis...
November 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29160422/identification-of-the-difference-in-the-pathogenesis-in-heart-failure-arising-from-different-etiologies-using-a-microarray-dataset
#13
Guodong Yang, Shuping Chen, Aiqun Ma, Jun Lu, Tingzhong Wang
OBJECTIVES: Clinically, patients with chronic heart failure arising from different etiologies receive the same treatment. However, the prognoses of these patients differ. The purpose of this study was to elucidate whether the pathogenesis of heart failure arising from different etiologies differs. METHODS: Heart failure-related dataset GSE1145 was obtained from the Gene Expression Omnibus database. Differentially expressed genes were identified using R. A protein-protein interaction network of the differentially expressed genes was constructed using Search Tool for the Retrieval of Interacting Genes...
October 2017: Clinics
https://www.readbyqxmd.com/read/29157081/regulation-of-becn1-mediated-autophagy-by-hspb6-insights-from-a-human-hspb6s10f-mutant
#14
Guan-Sheng Liu, Hongyan Zhu, Wen-Feng Cai, Xiaohong Wang, Min Jiang, Kobina Essandoh, Elizabeth Vafiadaki, Kobra Haghighi, Chi Keung Lam, George Gardner, George Adly, Persoulla Nicolaou, Despina Sanoudou, Qiangrong Liang, Jack Rubinstein, Guo-Chang Fan, Evangelia G Kranias
HSPB6/Hsp20 (heat shock protein family B [small] member 6) has emerged as a novel cardioprotector against stress-induced injury. We identified a human mutant of HSPB6 (HSPB6S10F) exclusively present in dilated cardiomyopathy (DCM) patients. Cardiac expression of this mutant in mouse hearts resulted in remodeling and dysfunction, which progressed to heart failure and early death. These detrimental effects were associated with reduced interaction of mutant HSPB6S10F with BECN1/Beclin 1, leading to BECN1 ubiquitination and its proteosomal degradation...
November 20, 2017: Autophagy
https://www.readbyqxmd.com/read/29155983/meox1-accelerates-myocardial-hypertrophic-decompensation-through-gata4
#15
Dan Lu, Jizheng Wang, Jing Li, Feifei Guan, Xu Zhang, Wei Dong, Ning Liu, Shan Gao, Lianfeng Zhang
Aims: Pathological hypertrophy is the result of gene network regulation, which ultimately leads to adverse cardiac remodelling and heart failure (HF), and is accompanied by the reactivation of a 'foetal gene programme'. The Mesenchyme homeobox 1 (Meox1) gene is one of the foetal programme genes. Meox1 may play a role in embryonic development, but its regulation of pathological hypertrophy is not known. Therefore, this study investigated the effect of Meox1 on pathological hypertrophy, including familial and pressure overload-induced hypertrophy, and its potential mechanism of action...
November 16, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29151494/amiodarone-induced-hyponatremia-masked-by-tolvaptan-in-a-patient-with-an-implantable-left-ventricular-assist-device
#16
Makiko Nakamura, Osahiko Sunagawa, Tadao Kugai, Koichiro Kinugawa
A 43-year-old man was referred to our hospital in June 2014 because of severe heart failure. He was diagnosed with familial dilated cardiomyopathy and was administered oral tolvaptan and amiodarone for atrial and ventricular tachycardia. Since up-titration of carvedilol had failed and he was dependent on dobutamine, a left ventricular assist device (LVAD) was implanted. Tolvaptan and furosemide were both discontinued after LVAD implantation and he was discharged from the hospital. Thirteen months later, he was hospitalized for lethargy and hyponatremia of 108 mEq/L, with an antidiuretic hormone level of 2...
November 17, 2017: International Heart Journal
https://www.readbyqxmd.com/read/29109008/the-pathogenic-gene-screening-in-a-chinese-familial-dilated-cardiomyopathy-pedigree-from-hubei
#17
Yongnan Lyu, Jingjing Chen, Hongxin Xu
Dilated cardiomyopathy arises from mutations in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for cardiomyopathy mutations because of its enormous size. In this study, we report a Chinese family with two members affected by TTN. Blood samples were collected from all family members. Genomic DNA was isolated from blood, and all coding exons and adjacent intronic sequences of the TTN gene were examined for mutation analysis using polymerase chain reaction (PCR)-based sequencing...
November 3, 2017: Gene
https://www.readbyqxmd.com/read/29095976/lamin-a-c-cardiomyopathy-young-onset-high-penetrance-and-frequent-need-for-heart-transplantation
#18
Nina Eide Hasselberg, Trine Fink Haland, Jørg Saberniak, Pål Haugar Brekke, Knut Erik Berge, Trond Paul Leren, Thor Edvardsen, Kristina Hermann Haugaa
Aims: Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results: During 2003-15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography...
October 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29029073/clinical-genetics-and-outcome-of-left-ventricular-non-compaction-cardiomyopathy
#19
Farbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, Christian Geier, Elham Kayvanpour, Martin Liss, Alan Lai, Karen Frese, Regina Pribe-Wolferts, Ali Amr, Daniel Tian Li, Omid Shirvani Samani, Avisha Carstensen, Diana Martins Bordalo, Marion Müller, Christine Fischer, Jing Shao, Jing Wang, Ming Nie, Li Yuan, Sabine Haßfeld, Christine Schwartz, Min Zhou, Zihua Zhou, Yanwen Shu, Min Wang, Kai Huang, Qiutang Zeng, Longxian Cheng, Tobias Fehlmann, Philipp Ehlermann, Andreas Keller, Christoph Dieterich, Katrin Streckfuß-Bömeke, Yuhua Liao, Michael Gotthardt, Hugo A Katus, Benjamin Meder
Aims: In this study, we aimed to clinically and genetically characterize LVNC patients and investigate the prevalence of variants in known and novel LVNC disease genes. Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of heart failure, arrhythmia, thromboembolism, and sudden cardiac death. We sought here to dissect its genetic causes, phenotypic presentation and outcome. Methods and results: In our registry with follow-up of in the median 61 months, we analysed 95 LVNC patients (68 unrelated index patients and 27 affected relatives; definite familial LVNC = 23...
October 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28965168/cardiac-arrhythmias-related-to-sodium-channel-dysfunction
#20
Eleonora Savio-Galimberti, Mariana Argenziano, Charles Antzelevitch
The voltage-gated cardiac sodium channel (Nav1.5) is a mega-complex comprised of a pore-forming α subunit and 4 ancillary β-subunits together with numerous protein partners. Genetic defects in the form of rare variants in one or more sodium channel-related genes can cause a loss- or gain-of-function of sodium channel current (INa) leading to the manifestation of various disease phenotypes, including Brugada syndrome, long QT syndrome, progressive cardiac conduction disease, sick sinus syndrome, multifocal ectopic Purkinje-related premature contractions, and atrial fibrillation...
October 1, 2017: Handbook of Experimental Pharmacology
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