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Familial dilated cardiomyopathy

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https://www.readbyqxmd.com/read/28098235/molecular-characterization-of-pediatric-restrictive-cardiomyopathy-from-integrative-genomics
#1
Tara N Rindler, Robert B Hinton, Nathan Salomonis, Stephanie M Ware
Pediatric restrictive cardiomyopathy (RCM) is a genetically heterogeneous heart disease with limited therapeutic options. RCM cases are largely idiopathic; however, even within families with a known genetic cause for cardiomyopathy, there is striking variability in disease severity. Although accumulating evidence implicates both gene expression and alternative splicing in development of dilated cardiomyopathy (DCM), there have been no detailed molecular characterizations of underlying pathways dysregulated in RCM...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28088328/altered-myocyte-contractility-and-calcium-homeostasis-in-alpha-myosin-heavy-chain-point-mutations-linked-to-familial-dilated-cardiomyopathy
#2
Matthew Klos, Lakshmi Mundada, Indroneal Banerjee, Sherry Morgenstern, Stephanie Myers, Michael Leone, Mark Kleid, Todd Herron, Eric Devaney
Mutations in the human cardiac motor protein beta-myosin heavy chain (βMHC) have been long recognized as a cause of familial hypertrophic cardiomyopathy. Recently, mutations (P830L and A1004S) in the less abundant but faster isoform alpha-myosin heavy chain (αMHC) have been linked to dilated cardiomyopathy (DCM). In this study, we sought to determine the cellular contractile phenotype associated with these point mutations. Ventricular myocytes were isolated from 2 month male Sprague Dawley rats. Cells were cultured in M199 media and infected with recombinant adenovirus containing the P830L or the A1004S mutant human αMHC at a MOI of 500 for 18 h...
January 11, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28070248/childhood-cardiomyopathies-a-study-in-tertiary-care-hospital-in-upper-egypt
#3
Mohamed Abd Elaal Bakeet, Montaser Mohamed Mohamed, Ahmed Ahmed Allam, Rania Gamal
INTRODUCTION: Cardiomyopathy (CMP) is defined by the World Health Organization (WHO) as a disease of the myocardium associated with cardiac dysfunction. An understanding of CMP is very important, as it is a common cause of heart failure in children, and the most common indication for heart transplantation in children older than one year, but data on CMP in Egypt are scarce. The aim of this study was to determine the number, risk factors, clinical presentation, complications and outcome of different types of childhood cardiomyopathies in Sohag University Hospital...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/28069640/sequence-variation-in-ppp1r13l-results-in-a-novel-form-of-cardio-cutaneous-syndrome
#4
Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan-Hersh, Eugene Vlodavsky, Liat Appl-Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman-Deutsch, Orly Avni
Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice...
January 9, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28045975/titin-truncating-variants-in-dilated-cardiomyopathy-prevalence-and-genotype-phenotype-correlations
#5
Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood samples were collected from 72 DCM probands, mean age of 34 years, 45.8% FDCM. DNA samples were examined by next generation sequencing (NGS) with a focus on the TTN gene...
2017: PloS One
https://www.readbyqxmd.com/read/28035124/your-epoch-is-not-for-trying-it-s-for-living-and-for-dying
#6
Leonid P Churilov
The article is devoted to biographies of three Russian physicians of the Silver Age (a period in the History of Russian culture between 1890 and 1917). They made early, significant and internationally recognized contribution into medical science and became eponymous, although social disasters of the twentieth century caused deep impact on their subsequent lives and careers, so their role was shadowed from global medical community. The article analyzes biographies and academic achievements of A-F.K. Siewert (aka: Zivert, Ziwert, von Siewert) (1872-1922), known for first description of the hereditary dyskinesia of cilia (as a triad of: situs inversus of the viscera, abnormal frontal sinuses producing sinusitis and bronchiectasis); S...
December 2016: Psychiatria Danubina
https://www.readbyqxmd.com/read/28032242/molecular-pathological-study-on-lrrc10-in-sudden-unexplained-nocturnal-death-syndrome-in-the-chinese-han-population
#7
Lei Huang, Shuangbo Tang, Yili Chen, Liyong Zhang, Kun Yin, Yeda Wu, Jinxiang Zheng, Qiuping Wu, Jonathan C Makielski, Jianding Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Clinical features of SUNDS survivors suggested that SUNDS is similar to Brugada syndrome (BrS). Leucine-rich repeat containing 10 (LRRC10) gene was a newly identified gene linked to dilated cardiomyopathy, a disease associated with sudden cardiac death. To investigate the prevalence and spectrum of genetic variants of LRRC10 gene in SUNDS and BrS, the coding regions of LRRC10 were genetically screened in 113 sporadic SUNDS victims (from January 2005 to December 2015, 30...
December 28, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28025268/hypertrophic-cardiomyopathy-with-aortic-dilation-a-novel-observation
#8
Rayan Yousefzai, Anushree Agarwal, M Fuad Jan, Chi Cho, Michael Anigbogu, Kambiz Shetabi, Maharaj Singh, Michelle Bush, Shannon Treiber, Steven Port, Khawaja Afzal Ammar, Timothy E Paterick, Renuka Jain, Bijoy K Khandheria, A Jamil Tajik
AIMS: Our goal was to identify the prevalence of aortic dilation in patients with hypertrophic cardiomyopathy (HCM), the most prevalent (0.2%) heritable, genetic cardiovascular disease. Aortic dilation also represents a spectrum of familial inheritance. However, data regarding the prevalence of aortic dilation in HCM patients is lacking. METHODS AND RESULTS: This is an observational retrospective study of all patients referred to our HCM centre. Aortic dilation was defined based on recent American Society of Echocardiography and European Association of Cardiovascular Imaging published guidelines...
December 26, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28011106/a-novel-scn5a-mutation-found-in-a-familial-case-of-long-qt-syndrome-complicated-by-severe-left-ventricular-dysfunction
#9
Mai Kimura, Takashi Kohno, Yoshiyasu Aizawa, Taku Inohara, Yasuyuki Shiraishi, Yoshinori Katsumata, Toru Egashira, Hiroyuki Fukushima, Kenjiro Kosaki, Keiichi Fukuda
A 16-year-old boy with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure resulting from dilated cardiomyopathy (DCM). His brother was also diagnosed with LQT3 and DCM. A comprehensive genetic analysis identified a novel SCN5A missense mutation-p.Q371E-in these 2 affected living family members. It might be important to suspect the coexistence of DCM and LQT3 (which is rare according to previous articles) in cases with this novel SCN5A missense mutation.
October 20, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28008423/flnc-gene-splice-mutations-cause-dilated-cardiomyopathy
#10
Rene L Begay, Charles A Tharp, August Martin, Sharon L Graw, Gianfranco Sinagra, Daniela Miani, Mary E Sweet, Dobromir B Slavov, Neil Stafford, Molly J Zeller, Rasha Alnefaie, Teisha J Rowland, Francesca Brun, Kenneth L Jones, Katherine Gowan, Luisa Mestroni, Deborah M Garrity, Matthew R G Taylor
OBJECTIVE: To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. BACKGROUND: DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. METHODS: We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing...
August 2016: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/27993910/a-38-year-old-man-with-progressive-dyspnoea-and-ventricular-tachycardia
#11
Alphonsus C Liew, Claire E Raphael, Raad Mohiaddin
CLINICAL INTRODUCTION: A previously healthy 38-year-old man presented with a 3-month history of progressive dyspnoea and ventricular tachycardia (VT). He suffered a viral illness 4 months earlier. There was no family history of cardiac disease or sudden cardiac death (SCD). ECG showed left bundle branch block (LBBB). Echocardiography revealed a dilated left ventricle with severely impaired systolic function. Coronary angiogram showed angiographically normal coronary arteries. He was diagnosed as having dilated cardiomyopathy and was referred for further assessment with cardiovascular magnetic resonance (CMR) (figure 1) and subsequently CT thorax...
December 19, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27936050/gene-targeted-mice-with-the-human-troponin-t-r141w-mutation-develop-dilated-cardiomyopathy-with-calcium-desensitization
#12
Mohun Ramratnam, Guy Salama, Ravi K Sharma, David Wen Rui Wang, Stephen H Smith, Sanjay K Banerjee, Xueyin N Huang, Lindsey M Gifford, Michele L Pruce, Bethann E Gabris, Samir Saba, Sanjeev G Shroff, Ferhaan Ahmad
Most studies of the mechanisms leading to hereditary dilated cardiomyopathy (DCM) have been performed in reconstituted in vitro systems. Genetically engineered murine models offer the opportunity to dissect these mechanisms in vivo. We generated a gene-targeted knock-in murine model of the autosomal dominant Arg141Trp (R141W) mutation in Tnnt2, which was first described in a human family with DCM. Mice heterozygous for the mutation (Tnnt2R141W/+) recapitulated the human phenotype, developing left ventricular dilation and reduced contractility...
2016: PloS One
https://www.readbyqxmd.com/read/27922664/expression-of-bcl-2-and-micrornas-in-cardiac-tissues-of-patients-with-dilated-cardiomyopathy
#13
Yong Wang, Min Li, Li Xu, Ju Liu, Dong Wang, Quan Li, Lili Wang, Peijie Li, Shanliang Chen, Tianqi Liu
Dilated cardiomyopathy (DCM) is associated with sudden cardiac death and heart failure, resulting in a significant medical burden. The mechanisms underlying the pathogenesis of DCM remain elusive. In the present study, human cardiac tissues from patients with DCM and healthy donors were collected and their pathology was examined. The expression levels of apoptosis regulator Bcl-2 and fibrosis-associated microRNAs were also evaluated. Extensive myocardial fibrosis and apoptosis in DCM cardiac tissues was observed...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#14
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27901040/follow-up-care-by-a-genetic-counsellor-for-relatives-at-risk-for-cardiomyopathies-is-cost-saving-and-well-appreciated-a-randomised-comparison
#15
Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen, Irene M van Langen
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27895589/amino-acid-changes-at-arginine-204-of-troponin-i-result-in-increased-calcium-sensitivity-of-force-development
#16
Susan Nguyen, Rylie Siu, Shannamar Dewey, Ziyou Cui, Aldrin V Gomes
Mutations in human cardiac troponin I (cTnI) have been associated with restrictive, dilated, and hypertrophic cardiomyopathies. The most commonly occurring residue on cTnI associated with familial hypertrophic cardiomyopathy (FHC) is arginine (R), which is also the most common residue at which multiple mutations occur. Two FHC mutations are known to occur at cTnI arginine 204, R204C and R204H, and both are associated with poor clinical prognosis. The R204H mutation has also been associated with restrictive cardiomyopathy (RCM)...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27889554/familial-dilated-cardiomyopathy-a-multidisciplinary-entity-from-basic-screening-to-novel-circulating-biomarkers
#17
REVIEW
D de Gonzalo-Calvo, M Quezada, O Campuzano, A Perez-Serra, J Broncano, R Ayala, M Ramos, V Llorente-Cortes, S Blasco-Turrión, F J Morales, P Gonzalez, R Brugada, A Mangas, R Toro
Idiopathic dilated cardiomyopathy has become one of the most prevalent inherited cardiomyopathies over the past decades. Genetic screening of first-degree relatives has revealed that 30-50% of the cases have a familial origin. Similar to other heart diseases, familial dilated cardiomyopathy is characterized by a high genetic heterogeneity that complicates family studies. Cli'nical screening, 12-lead electrocardiogram and transthoracic echocardiogram are recommended for patients and first-degree family members...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27855642/mutation-of-a-common-amino-acid-in-nkx2-5-results-in-dilated-cardiomyopathy-in-two-large-families
#18
Alan Hanley, Katie A Walsh, Caroline Joyce, Michael A McLellan, Sebastian Clauss, Amaya Hagen, Marisa A Shea, Nathan R Tucker, Honghuang Lin, Gerard J Fahy, Patrick T Ellinor
BACKGROUND: The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases. METHODS: We report two large families with pleiotropic inherited cardiomyopathy. In addition to DCM, the phenotypes included atrial and ventricular septal defects, cardiac arrhythmia and sudden death. Probands underwent whole exome sequencing to identify potentially causative variants...
November 17, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27822399/diagnosis-of-dilated-cardiomyopathy-patient-reaction-and-adaptation-case-study-and-review-of-the-literature
#19
Solomis Solomou, Maria Stavrou, Justin Marley
Objective. Heart failure remains a major cause of morbidity and mortality. Given that heart failure generally has a chronic course, it is important to appreciate the impact it can have on the quality of life of patients and also their partners or family carers. Method. Questionnaires were given to a patient newly diagnosed with dilated cardiomyopathy, during his hospital admission, as well as after discharge. The responses are summarised and explored in the discussion section, where we used review of the literature to discuss the implications of a new diagnosis of heart failure...
2016: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/27813223/truncating-titin-mutations-are-associated-with-a-mild-and-treatable-form-of-dilated-cardiomyopathy
#20
Joeri A Jansweijer, Karin Nieuwhof, Francesco Russo, Edgar T Hoorntje, Jan D H Jongbloed, Ronald H Lekanne Deprez, Alex V Postma, Marieke Bronk, Ingrid A W van Rijsingen, Simone de Haij, Elena Biagini, Paul L van Haelst, Jan van Wijngaarden, Maarten P van den Berg, Arthur A M Wilde, Marcel M A M Mannens, Rudolf A de Boer, Karin Y van Spaendonck-Zwarts, J Peter van Tintelen, Yigal M Pinto
AIMS: Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. METHODS AND RESULTS: We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM); n = 60]...
November 3, 2016: European Journal of Heart Failure
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