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Genetic cardiomyopathies

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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/28097316/evaluation-of-structural-progression-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#2
Thomas P Mast, Cynthia A James, Hugh Calkins, Arco J Teske, Crystal Tichnell, Brittney Murray, Peter Loh, Stuart D Russell, Birgitta K Velthuis, Daniel P Judge, Dennis Dooijes, Ryan J Tedford, Jeroen F van der Heijden, Harikrishna Tandri, Richard N Hauer, Theodore P Abraham, Pieter A Doevendans, Anneline S J M Te Riele, Maarten J Cramer
Importance: Considerable research has described the arrhythmic course of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). However, objective data characterizing structural progression, such as ventricular enlargement and cardiac dysfunction, in ARVD/C are relatively scarce. Objectives: To define the extent of structural progression, identify determinants of structural progression, and determine the association between structural progression and electrocardiographic (ECG) changes in patients with ARVD/C...
January 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28079110/left-ventricular-noncompaction-cardiomyopathy-cardiac-neuromuscular-and-genetic-factors
#3
REVIEW
Josef Finsterer, Claudia Stöllberger, Jeffrey A Towbin
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate...
January 12, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#4
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28073646/hypertrophic-cardiomyopathy-without-ventricular-hypertrophy-usefulness-of-genetic-and-pathological-study-in-preventing-sudden-death
#5
Federico Segura-Villalobos, Ana Isabel Hernández-Guerra, Fernando Wanguemert-Pérez, Juan Carlos Rodríguez-Pérez, Haridian Mendoza-Lemes, Roberto Barriales-Villa
No abstract text is available yet for this article.
January 7, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28069640/sequence-variation-in-ppp1r13l-results-in-a-novel-form-of-cardio-cutaneous-syndrome
#6
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/28069601/comprehensive-multi-modality-imaging-approach-in-arrhythmogenic-cardiomyopathy-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#7
Kristina H Haugaa, Cristina Basso, Luigi P Badano, Chiara Bucciarelli-Ducci, Nuno Cardim, Oliver Gaemperli, Maurizio Galderisi, Gilbert Habib, Juhani Knuuti, Patrizio Lancellotti, William McKenna, Danilo Neglia, Bogdan A Popescu, Thor Edvardsen
Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias...
January 9, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28062247/severe-apical-hypertrophic-cardiomyopathy-with-ser-236-gly-mutation-in-mybpc3-a-three-year-follow-up-investigation
#8
XueJiang Cen, JianLei Zheng, XueLie Hu, BaiMing Qu
Apical hypertrophic cardiomyopathy (AHCM) is a relatively rare form of hypertrophic cardiomyopathy (HCM) and usually involved with genetic variations encoding sarcomeric proteins. In this report, a 68-year-old male presented with exertional angina and giant negative T-waves in the precordial leads V3-V6 was eventually diagnosed with severe AHCM by echocardiography and left ventriculogram. The entire coding Sequences of the most frequent HCM-causing genes were analyzed. A novel mutation of Ser 236 Gly in myosin-binding protein C (MYBPC3) gene was discovered...
January 3, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28050600/histiocytoid-cardiomyopathy-and-microphthalmia-with-linear-skin-defects-syndrome-phenotypes-linked-by-truncating-variants-in-ndufb11
#9
Gillian Rea, Tessa Homfray, Jan Till, Ferran Roses-Noguer, Rachel J Buchan, Sam Wilkinson, Alicja Wilk, Roddy Walsh, Shibu John, Shane McKee, Fiona J Stewart, Victoria Murday, Robert W Taylor, Michael Ashworth, A John Baksi, Piers Daubeney, Sanjay Prasad, Paul J R Barton, Stuart A Cook, James S Ware
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28045975/titin-truncating-variants-in-dilated-cardiomyopathy-prevalence-and-genotype-phenotype-correlations
#10
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/28045696/sudden-death-in-a-male-infant-due-to-histiocytoid-cardiomyopathy-an-autopsy-case-and-review-of-the-literature
#11
Hanbing Xie, Xueqin Chen, Ni Chen, Qiao Zhou
Histiocytoid cardiomyopathy (HC) is a very rare cardiac disorder that mainly affects female infants younger than 2 years. It may manifest as ventricular tachycardia or dilated cardiomyopathy and frequently causes sudden death. The most common grossly change is multifocal uneven thickening of the endocardium, presenting a yellowish color, with some area forming nodular appearance, and histologically featured by scattered clusters of histiocytoid myocytes under the endocardium. Here, we present a 19-month-old male infant who died of heart failure, and an autopsy was performed and confirmed the diagnosis of HC...
December 30, 2016: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28032242/molecular-pathological-study-on-lrrc10-in-sudden-unexplained-nocturnal-death-syndrome-in-the-chinese-han-population
#12
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/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#13
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28025268/hypertrophic-cardiomyopathy-with-aortic-dilation-a-novel-observation
#14
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/28018818/surgical-myectomy-after-failed-ablation-for-hypertrophic-obstructive-cardiomyopathy
#15
Ioannis Bougioukas, Uta Hoppe, Bernhard Danner, Friedrich A Schoendube
Background Hypertrophic cardiomyopathy is a genetic disease of the myocardial sarcolemma characterized by left ventricular hypertrophy. When obstruction to the left ventricular outflow tract is present and symptoms are refractory to medication, surgical myectomy or alcohol septal ablation is indicated. Case Description We report a case of a patient presented for myectomy due to recurrence only 1 year after alcohol ablation. Interesting findings were a firm subaortic membrane and a direct insertion of the papillary muscle into the mitral valve...
December 2016: Thoracic and Cardiovascular Surgeon Reports
https://www.readbyqxmd.com/read/28013283/delayed-and-decreased-lv-untwist-and-unstrain-rate-in-mutation-carriers-for-hypertrophic-cardiomyopathy
#16
Floris Kauer, Bas M van Dalen, Michelle Michels, Arend F L Schinkel, Wim B Vletter, Marjon van Slegtenhorst, Osama I I Soliman, Marcel L Geleijnse
BACKGROUND: The echocardiographic focus to detect abnormalities in genetically hypertrophic cardiomyopathy (HCM) affected subjects without left ventricular (LV) hypertrophy (G+/LVH-) has been on diastolic abnormalities in transmitral flow and longitudinal myocardial function with tissue Doppler imaging. The aim of this study was to assess diastolic LV unstrain and untwist. METHODS AND RESULTS: Forty-one consecutive genotyped family members of HCM patients (mean age 37 ± 11 years, 16 men) and 41 age- and gender-matched healthy volunteers underwent speckle-tracking echocardiography to measure untwist and unstrain...
December 24, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28012557/exercise-testing-for-long-term-follow-up-in-arrhythmogenic-right-ventricular-cardiomyopathy
#17
Daniel Karlsson, Jan Engvall, Agota Alfoldine Ando, Meriam Åström Aneq
OBJECTIVES: We investigated arrhythmia, electrocardiography and physical work capacity (PWC) in the follow-up of ARVC. DESIGN: Twenty-three patients (13 men; age 41±12years) fulfilling diagnostic criteria were re-investigated after at least five years. RESULTS: Ventricular arrhythmia during exercise testing (ET) was present in 14 patients (61%) and showed variation between examinations. In eleven (48%), complex ventricular ectopic activity was observed at peak exercise or immediately thereafter...
October 28, 2016: Journal of Electrocardiology
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
#18
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/28009297/integrative-analysis-of-prkag2-cardiomyopathy-ips-and-microtissue-models-identifies-ampk-as-a-regulator-of-metabolism-survival-and-fibrosis
#19
J Travis Hinson, Anant Chopra, Andre Lowe, Calvin C Sheng, Rajat M Gupta, Rajarajan Kuppusamy, John O'Sullivan, Glenn Rowe, Hiroko Wakimoto, Joshua Gorham, Kehan Zhang, Kiran Musunuru, Robert E Gerszten, Sean M Wu, Christopher S Chen, Jonathan G Seidman, Christine E Seidman
AMP-activated protein kinase (AMPK) is a metabolic enzyme that can be activated by nutrient stress or genetic mutations. Missense mutations in the regulatory subunit, PRKAG2, activate AMPK and cause left ventricular hypertrophy, glycogen accumulation, and ventricular pre-excitation. Using human iPS cell models combined with three-dimensional cardiac microtissues, we show that activating PRKAG2 mutations increase microtissue twitch force by enhancing myocyte survival. Integrating RNA sequencing with metabolomics, PRKAG2 mutations that activate AMPK remodeled global metabolism by regulating RNA transcripts to favor glycogen storage and oxidative metabolism instead of glycolysis...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28008423/flnc-gene-splice-mutations-cause-dilated-cardiomyopathy
#20
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
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