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Genetic cardiomyopathies

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https://www.readbyqxmd.com/read/29053178/utility-of-genetics-for-risk-stratification-in-pediatric-hypertrophic-cardiomyopathy
#1
J Mathew, L Zahavich, M Lafreniere-Roula, J Wilson, K George, L Benson, S Bowdin, S Mital
Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life-threatening events. We assessed if affected gene and variant burden predict outcomes. Patients <18 years old with primary HCM with a pathogenic variant or variant of uncertain significance in cardiomyopathy genes were included. Association of gene and variant number and type with freedom from major adverse cardiac events (MACE) i.e. ICD insertion, myectomy, aborted SCD, transplantation or death, was assessed by Cox regression...
October 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29050118/-gene-mutation-and-clinical-phenotype-analysis-of-patients-with-noonan-syndrome-and-hypertrophic-cardiomyopathy
#2
X H Liu, W W Ding, L Han, X R Liu, Y Y Xiao, J Yang, Y Mo
Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy...
October 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29049825/comparison-of-clinical-characteristics-and-outcomes-of-peripartum-cardiomyopathy-between-african-american-and-non-african-american-women
#3
Olga Corazón Irizarry, Lisa D Levine, Jennifer Lewey, Theresa Boyer, Valerie Riis, Michal A Elovitz, Zolt Arany
Importance: Peripartum cardiomyopathy (PPCM) disproportionately affects women of African ancestry, but well-powered studies to explore differences in severity of disease and clinical outcomes are lacking. Objective: To compare the clinical characteristics, presentation, and outcomes of PPCM between African American and non-African American women. Design, Setting, and Participants: This retrospective cohort study using data from January 1, 1986, through December 31, 2016, performed at the University of Pennsylvania Health System, a tertiary referral center serving a population with a high proportion of African American individuals, included 220 women with PPCM...
October 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29047356/non-syndromic-cardiac-progeria-in-a-patient-with-the-rare-pathogenic-p-asp300asn-variant-in-the-lmna-gene
#4
Ali J Marian
BACKGROUND: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA gene and developed progressive degeneration of various cardiac structures, as seen in the elderly...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29046207/-clinical-characteristics-and-gaa-gene-mutation-in-children-with-glycogen-storage-disease-type-ii-an-analysis-of-3-cases
#5
Shan Yuan, Jie Jiang, Lu-Ting Zha, Zuo-Cheng Yang
Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD II, and two cases as late-onset GSD II. The infantile-onset patient (aged 4 months) showed no weight increase and had dyspnea, muscle hypotonia, and increased alanine aminotransferase and creatine kinase; echocardiography showed hypertrophic cardiomyopathy...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29040909/treatment-with-fenofibrate-plus-a-low-dose-of-benznidazole-attenuates-cardiac-dysfunction-in-experimental-chagas-disease
#6
Ágata C Cevey, Gerardo A Mirkin, Martín Donato, María J Rada, Federico N Penas, Ricardo J Gelpi, Nora B Goren
Trypanosoma cruzi induces serious cardiac alterations during the chronic infection. Intense inflammatory response observed from the beginning of infection, is critical for the control of parasite proliferation and evolution of Chagas disease. Peroxisome proliferator-activated receptors (PPAR)-α, are known to modulate inflammation. In this study we investigated whether a PPAR-α agonist, Fenofibrate, improves cardiac function and inflammatory parameters in a murine model of T. cruzi infection. BALB/c mice were sequentially infected with two T...
October 7, 2017: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29039828/-clinical-laboratory-and-instrumental-criteria-for-myocarditis-established-in-comparison-with-myocardial-biopsy-a-non-invasive-diagnostic-algorithm
#7
O V Blagova, Yu V Osipova, A V Nedostup, E A Kogan, V A Sulimov
AIM: To determine the diagnostic value of different clinical, laboratory, and instrumental signs in the diagnosis of myocarditis in patients with the picture of idiopathic arrhythmias, dilated cardiomyopathy (DCM) and in a comparison group when comparing with myocardial morphological examination. SUBJECTS AND METHODS: A study group included 100 patients (35 women; mean age, 44.7±12.5 years) with idiopathic arrhythmias (n=20) and DCM as a syndrome (n=100). All underwent myocardial morphological examination: endomyocardial biopsy (EMB) (n=71), intraoperative biopsy (n=13), study of the explanted heart (n=6), and autopsy (n=11)...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29038103/large-genomic-rearrangements-of-desmosomal-genes-in-italian-arrhythmogenic-cardiomyopathy-patients
#8
Kalliopi Pilichou, Elisabetta Lazzarini, Ilaria Rigato, Rudy Celeghin, Marzia De Bortoli, Marina Perazzolo Marra, Marco Cason, Jan Jongbloed, Martina Calore, Stefania Rizzo, Daniela Regazzo, Giulia Poloni, Sabino Iliceto, Luciano Daliento, Pietro Delise, Domenico Corrado, J Peter Van Tintelen, Gaetano Thiene, Alessandra Rampazzo, Cristina Basso, Barbara Bauce, Alessandra Lorenzon, Gianluca Occhi
BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening is positive in ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetrance by cosegregation analysis in family members. METHODS AND RESULTS: A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutation screening underwent multiplex ligation-dependent probe amplification...
October 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29037169/left-ventricular-non-compaction-cardiomyopathy-with-coronary-artery-anomaly-complicated-by-ventricular-tachycardia
#9
Gustav Mattsson, Abdullah Baroudi, Hoshmand Tawfiq, Peter Magnusson
BACKGROUND: Non-compaction cardiomyopathy (NCCM) is characterized by prominent trabeculations, deep intertrabecular recesses, and a thick non-compacted endocardial myocardium. Prevalence in the general population remains unclear, but echocardiography series report 0.05%. During fetal development muscle fibers and trabeculae should compact into a solid myocardium and when this fails, NCCM occurs. The condition is genetic, even though acquired forms have been described. Worsening myocardial dysfunction may lead to heart failure and/or arrhythmias...
October 16, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29032884/the-genetics-underlying-idiopathic-ventricular-fibrillation-a-special-role-for-catecholaminergic-polymorphic-ventricular-tachycardia
#10
Jaakko T Leinonen, Lia Crotti, Aurora Djupsjöbacka, Silvia Castelletti, Nella Junna, Alice Ghidoni, Annukka M Tuiskula, Carla Spazzolini, Federica Dagradi, Matti Viitasalo, Kimmo Kontula, Maria-Christina Kotta, Elisabeth Widén, Heikki Swan, Peter J Schwartz
BACKGROUND: Ventricular fibrillation (VF) is a major cause of sudden cardiac death. In some cases clinical investigations fail to identify the underlying cause and the event is classified as idiopathic (IVF). Since mutations in arrhythmia-associated genes frequently determine arrhythmia susceptibility, screening for disease-predisposing variants could improve IVF diagnostics. METHODS AND RESULTS: The study included 76 Finnish and Italian patients with a mean age of 31...
October 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29032433/diffuse-mesangial-sclerosis-in-a-pdss2-mutation-induced-coenzyme-q10-deficiency
#11
Béla Iványi, Gábor Z Rácz, Péter Gál, Kitti Brinyiczki, István Bódi, Tibor Kalmár, Zoltán Maróti, Csaba Bereczki
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene...
October 14, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29030401/a-comparison-of-whole-genome-sequencing-to-multigene-panel-testing-in-hypertrophic-cardiomyopathy-patients
#12
Allison L Cirino, Neal K Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark Weinfeld, Patrick O'Gara, Heidi L Rehm, Kalotina Machini, Matthew Lebo, Carrie Blout, Robert C Green, Calum A MacRae, Christine E Seidman, Carolyn Y Ho
BACKGROUND: As DNA sequencing costs decline, genetic testing options have expanded. Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multigene panels that have been the cornerstone of genetic testing. METHODS AND RESULTS: Forty-one patients with hypertrophic cardiomyopathy who had undergone targeted hypertrophic cardiomyopathy genetic testing (either multigene panel or familial variant test) were recruited into the MedSeq Project, a clinical trial of WGS...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29029073/clinical-genetics-and-outcome-of-left-ventricular-non-compaction-cardiomyopathy
#13
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/29027470/next-generation-sequencing-applications-for-cardiovascular-disease
#14
Samira Kalayinia, Hamidreza Goodarzynejad, Majid Maleki, Nejat Mahdieh
The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular diseases (CVDs)...
October 13, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/29024827/left-ventricular-non-compaction-with-ebstein-anomaly-attributed-to-a-tpm1-mutation
#15
Aleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, Anniek Corveleyn, Bert Suys, Bernard Paelinck, Johan Saenen, Emeline Van Craenenbroeck, Lut Van Laer, Bart Loeys, Aline Verstraeten
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development. While it mostly occurs as an isolated condition, association with other cardiovascular manifestations such as Ebstein anomaly (EA) has been reported. This congenital heart defect is characterized by downward displacement of the tricuspid valve and leads to diminished ventricular size and function. In an autosomal dominant LVN(C) family consisting of five affected individuals, of which two also presented with EA and two others with mitral valve insufficiency, we pursued the genetic disease cause using whole exome sequencing (WES)...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29021295/mitochondrial-cardiomyopathy-caused-by-elevated-reactive-oxygen-species-and-impaired-cardiomyocyte-proliferation
#16
Donghui Zhang, Yifei Li, Danielle A Heims-Waldron, Vassilios J Bezzerides, Silvia Guatimosim, Yuxuan Guo, Fei Gu, Pingzhu Zhou, Zhiqiang Lin, Qing Ma, Jianming Liu, Da-Zhi Wang, William T Pu
Rationale: Although mitochondrial diseases often cause abnormal myocardial development, the mechanisms by which mitochondria influence heart growth and function are poorly understood. Objective: To investigate these disease mechanisms, we studied a genetic model of mitochondrial dysfunction caused by inactivation of Tfam (Transcription Factor A, Mitochondrial), a nuclear-encoded gene that is essential for mitochondrial gene transcription and mitochondrial DNA replication. Methods and Results:Tfam inactivation by Nkx2...
October 11, 2017: Circulation Research
https://www.readbyqxmd.com/read/29018006/%C3%AE-galactosidase-a-genotype-n215s-induces-a-specific-cardiac-variant-of-fabry-disease
#17
Daniel Oder, Dan Liu, Kai Hu, Nurcan Üçeyler, Tim Salinger, Jonas Müntze, Kristina Lorenz, Reinhard Kandolf, Hermann-Josef Gröne, Claudia Sommer, Georg Ertl, Christoph Wanner, Peter Nordbeck
BACKGROUND: Hypertrophic cardiomyopathy is the most common type of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations. We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement. METHODS AND RESULTS: All subjects who tested positive for the N215S genotype (n=26, 13 females, mean age 49±17 [range, 14-74] years) were characterized in this prospective monocentric longitudinal cohort study to determine genotype-specific clinical characteristics of the N215S (c...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29016939/molecular-autopsy-of-sudden-unexplained-deaths-reveals-genetic-predispositions-for-cardiac-diseases-among-young-forensic-cases
#18
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
October 17, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29016726/genetic-polymorphisms-of-alcohol-metabolizing-enzymes-and-alcohol-consumption-are-associated-with-asymptomatic-cardiac-remodeling-and-subclinical-systolic-dysfunction-in-large-community-dwelling-asians
#19
Chung-Lieh Hung, Shun-Chuan Chang, Sheng-Hsiung Chang, Po-Ching Chi, Yu-Jun Lai, Shih-Wei Wang, Yih-Jer Wu, Hung-I Yeh, Shing-Jong Lin, Che-Hong Chen, Daria Mochly-Rosen, Li-Yu Wang
Aims: Excessive consumption of alcoholic beverages is associated with cardiac remodeling and cardiomyopathy. We examined the possible association of alcohol use, common Asian genetic variants in genes involved in alcohol metabolism, and cardiac structures/functions alterations. Methods: A prospective, community-dwelling survey among individuals with available complete echocardiography examined the associations of alcohol use, cardiac structure/functions, and three common alcohol metabolizing genetic variants, including aldehyde dehydrogenase 2 (ALDH2), alcohol dehydrogenase 1B (ADH1B) and cytochrome P450 (CYP) isoform 2E1 (CYP2E1)...
August 31, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28988575/alcohol-s-effects-on-the-cardiovascular-system
#20
Mariann R Piano
Alcohol use has complex effects on cardiovascular (CV) health. The associations between drinking and CV diseases such as hypertension, coronary heart disease, stroke, peripheral arterial disease, and cardiomyopathy have been studied extensively and are outlined in this review. Although many behavioral, genetic, and biologic variants influence the interconnection between alcohol use and CV disease, dose and pattern of alcohol consumption seem to modulate this most. Low-to-moderate alcohol use may mitigate certain mechanisms such as risk and hemostatic factors affecting atherosclerosis and inflammation, pathophysiologic processes integral to most CV disease...
2017: Alcohol Research: Current Reviews
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