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Cardiac genetic testing

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https://www.readbyqxmd.com/read/28223051/functional-status-and-quality-of-life-in-survivors-of-extracorporeal-membrane-oxygenation-after-the-norwood-operation
#1
Joshua M Friedland-Little, Karen Uzark, Sunkyung Yu, Ray Lowery, Ranjit Aiyagari, Jennifer C Hirsch-Romano
BACKGROUND: Infants who require extracorporeal membrane oxygenation (ECMO) support after a Norwood operation are at increased risk for early and late death compared with patients who do not require ECMO post-Norwood. Little is known about the effect that ECMO post-Norwood has on functional status and quality of life among long-term survivors. METHODS: We prospectively evaluated functional status and health-related quality of life in 12 surviving patients (cases) and 19 corresponding patients (controls) from a previous retrospective case-control assessment of long-term survival in patients requiring ECMO post-Norwood...
February 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28220464/perspectives-and-challenges-of-pluripotent-stem-cells-in-cardiac-arrhythmia-research
#2
REVIEW
Alexander Goedel, Ilaria My, Daniel Sinnecker, Alessandra Moretti
PURPOSE OF REVIEW: The promises of human-induced pluripotent stem cells (hiPSCs) for modeling arrhythmogenic disease, but also for drug discovery and toxicity tests, are straightforward and exciting. However, the full potential of this new technology has not been fully realized yet. The purpose of this review is to provide an overview of the state-of-the-art research in arrhythmogenic disease modeling and drug discovery and an outlook of what can be expected from the second decade of hiPSC-based arrhythmia research...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28216547/mid-term-follow-up-of-school-aged-children-with-borderline-long-qt-interval
#3
Aya Miyazaki, Heima Sakaguchi, Yu Matsumura, Yosuke Hayama, Kanae Noritake, Jun Negishi, Etsuko Tsuda, Yoshihiro Miyamoto, Takeshi Aiba, Wataru Shimizu, Kengo Kusano, Isao Shiraishi, Hideo Ohuchi
BACKGROUND: There are no definitive diagnostic criteria or follow-up strategies for long QT syndrome (LQTS) in children with a borderline long QT interval (b-LQT).Methods and Results:We retrospectively evaluated the clinical course, genetic testing results, corrected QT interval (QTc), and LQTS score of 59 school-aged children (5-18 years old) with a b-LQT (400≤QTc<500 ms). Syncope, but neither aborted cardiac arrest nor sudden cardiac death, occurred in 2 patients during the follow-up (6±3...
February 18, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28214153/arrhythmogenic-right-ventricular-dysplasia-atypical-clinical-presentation
#4
José Marçalo, Luiz Menezes Falcão
A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28214152/clinical-and-genetic-diagnosis-of-familial-hypertrophic-cardiomyopathy-results-in-pediatric-cardiology
#5
Bárbara Cardoso, Inês Gomes, Petra Loureiro, Conceição Trigo, Fátima Ferreira Pinto
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant inheritance with incomplete penetrance and variable expression. The main purpose of family screening is to identify relatives with unrecognized HCM and to monitor those at risk for disease, in order to minimize complications and to assess risk of sudden cardiac death. The ESC and ACCF/AHA guidelines on the diagnosis and management of HCM recommend the screening of child relatives from the age of 10-12 years...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#6
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28194437/mitochondrial-quality-control-dysregulation-in-conditional-ho-1-mice
#7
Hagir B Suliman, Jeffrey E Keenan, Claude A Piantadosi
The heme oxygenase-1 (Hmox1; HO-1) pathway was tested for defense of mitochondrial quality control in cardiomyocyte-specific Hmox1 KO mice (HO-1[CM](-/-)) exposed to oxidative stress (100% O2). After 48 hours of exposure, these mice showed persistent cardiac inflammation and oxidative tissue damage that caused sarcomeric disruption, cardiomyocyte death, left ventricular dysfunction, and cardiomyopathy, while control hearts showed minimal damage. After hyperoxia, HO-1(CM)(-/-) hearts showed suppression of the Pgc-1α/nuclear respiratory factor-1 (NRF-1) axis, swelling, low electron density mitochondria by electron microscopy (EM), increased cell death, and extensive collagen deposition...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28193612/lack-of-phenotypic-differences-by-cardiovascular-magnetic-resonance-imaging-in-myh7-%C3%AE-myosin-heavy-chain-versus-mybpc3-myosin-binding-protein-c-related-hypertrophic-cardiomyopathy
#8
Adaya Weissler-Snir, Waseem Hindieh, Christiane Gruner, Dana Fourey, Evan Appelbaum, Ethan Rowin, Melanie Care, John R Lesser, Tammy S Haas, James E Udelson, Warren J Manning, Iacopo Olivotto, Benedetta Tomberli, Barry J Maron, Martin S Maron, Andrew M Crean, Harry Rakowski, Raymond H Chan
BACKGROUND: The 2 most commonly affected genes in hypertrophic cardiomyopathy (HCM) are MYH7 (β-myosin heavy chain) and MYBPC3 (β-myosin-binding protein C). Phenotypic differences between patients with mutations in these 2 genes have been inconsistent. Scarce data exist on the genotype-phenotype association as assessed by tomographic imaging using cardiac magnetic resonance imaging. METHODS AND RESULTS: Cardiac magnetic resonance imaging was performed on 358 consecutive genotyped hypertrophic cardiomyopathy probands at 5 tertiary hypertrophic cardiomyopathy centers...
February 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28183324/identification-of-taz-mutations-in-pediatric-patients-with-cardiomyopathy-by-targeted-next-generation-sequencing-in-a-chinese-cohort
#9
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28177711/the-influence-of-genetic-polymorphisms-on-performance-cardiac-and-hemodynamic-parameters-among-brazilian-soccer-players
#10
Thiago José Dionísio, Carlos Rogério Thiengo, Daniel Thomas Brozoski, Evandro José Dionísio, Guilherme Augusto Talamoni, Roberto Braga Silva, Gustavo Pompermaier Garlet, Carlos Ferreira Santos, Sandra Lia Amaral
This study investigated whether ACTN3 R577X, AMPD1 C34T, I/D ACE and M235T AGT polymorphisms can affect performance tests such as jumping, sprinting and endurance in 220 young male athletes from professional minor league soccer team from São Paulo Futebol Clube, Brazil. I/D ACE and M235T AGT polymorphisms were also analyzed according to cardiac and hemodynamic parameters. Athletes were grouped or not by age. DNA from saliva and Taqman® assays were used for genotyping 220 athletes and the results were associated with performance tests...
January 24, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28177551/the-significance-of-a-prenatal-diagnosis-of-right-aortic-arch
#11
Anna Wójtowicz, Maria Respondek-Liberska, Maciej Słodki, Paulina Kordjalik, Joanna Płużańska, Anna Knafel, Hubert Huras
OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in 2 referral centers. RESULTS: RAA was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28163043/p53-modulates-the-fate-of-cardiac-progenitor-cells-ex-vivo-and-in-the-diabetic-heart-in-vivo
#12
Ramaswamy Kannappan, Alex Matsuda, João Ferreira-Martins, Eric Zhang, Giorgia Palano, Anna Czarna, Mauricio Castro Cabral-Da-Silva, Adriana Bastos-Carvalho, Fumihiro Sanada, Noriko Ide, Marcello Rota, Maria A Blasco, Manuel Serrano, Piero Anversa, Annarosa Leri
p53 is an important modulator of stem cell fate, but its role in cardiac progenitor cells (CPCs) is unknown. Here, we tested the effects of a single extra-copy of p53 on the function of CPCs in the presence of oxidative stress mediated by doxorubicin in vitro and type-1 diabetes in vivo. CPCs were obtained from super-p53 transgenic mice (p53-tg), in which the additional allele is regulated in a manner similar to the endogenous protein. Old CPCs with increased p53 dosage showed a superior ability to sustain oxidative stress, repair DNA damage and restore cell division...
January 31, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28155223/evaluation-of-prolonged-qt-interval-structural-heart-disease-mimicking-long-qt-syndrome
#13
Adaya Weissler-Snir, Michael H Gollob, Vijay Chauhan, Melanie Care, Danna A Spears
BACKGROUND: In about 20-25% of patients with congenital long QT syndrome (LQTS) a causative pathogenic mutation is not found. The aim of this study was to explore the prevalence of alternative cardiac diagnoses among patients exhibiting prolongation of QT interval with negative genetic testing for LQTS genes. METHODS: We conducted a retrospective analysis of 239 consecutive patients who were evaluated in the inherited arrhythmia clinic at the Toronto General Hospital between July 2013 and December 2015 for possible LQTS...
February 3, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28134617/modeling-susceptibility-to-drug-induced-long-qt-with-a-panel-of-subject-specific-induced-pluripotent-stem-cells
#14
Francesca Stillitano, Jens Hansen, Chi-Wing Kong, Ioannis Karakikes, Christian Funck-Brentano, Lin Geng, Stuart Scott, Stephan Reynier, Ma Wu, Yannick Valogne, Carole Desseaux, Joe-Elie Salem, Dorota Jeziorowska, Noël Zahr, Ronald Li, Ravi Iyengar, Roger J Hajjar, Jean-Sébastien Hulot
A large number of drugs can induce prolongation of cardiac repolarization and life-threatening cardiac arrhythmias. The prediction of this side effect is however challenging as it usually develops in some genetically predisposed individuals with normal cardiac repolarization at baseline. Here, we describe a platform based on a genetically diverse panel of induced pluripotent stem cells (iPSCs) that reproduces susceptibility to develop a cardiotoxic drug response. We generated iPSC-derived cardiomyocytes from patients presenting in vivo with extremely low or high changes in cardiac repolarization in response to a pharmacological challenge with sotalol...
January 30, 2017: ELife
https://www.readbyqxmd.com/read/28127136/a-variant-of-brugada-syndrome
#15
Maryna Popp Switzer, Mohamed Teleb, Enoch Agunanne, Aamer Abbas
Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28109524/torsades-de-pointes-with-high-dose-loperamide
#16
Patrick M Kozak, Amanda K Harris, John A McPherson, Dan M Roden
CASE: A 41year-old male presented with torsades de pointes. The patient was taking over 100mg of loperamide per day to self-medicate for chronic pain. Coronary angiography, cardiac magnetic resonance imaging, and genetic testing were negative for pre-disposing ischemia, cardiomyopathy, or genetic variant respectively. CONCLUSIONS: Patients without predisposing genetic or cardiac abnormalities are at risk of life-threatening QTc prolongation and torsades with use of high-dose loperamide...
January 16, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#17
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28100344/-recurrent-syncope-related-to-catecholaminergic-polymorphic-ventricular-tachycardia-due-to-de-novo-ryr2-r2401h-mutation
#18
X Liu, J X Li, J Z Hu, Y Shen, R Wan, Q M Xiong, Q Q Zhou, J Y Xie, J J Jin, X Yan, J H Yu, K Hong
Objective: To explore the clinical and molecular genetic features of a Chinese patient with catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods: Clinical data including resting electrocardiography, echocardiography and treadmill exercise testing of a patient with CPVT admitted to our department in March 2013 were analyzed, and the peripheral venous blood samples of the patient and his family members and 400 ethnicity-matched healthy controls were obtained. All exons and exon-intron boundaries of the six CPVT-related genes including RYR2, CASQ2, TRDN, CALM1, KCNJ2 and ANKB were sequenced to detect the variants related to CPVT...
January 25, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28089252/practical-approaches-for-whole-genome-sequence-analysis-of-heart-and-blood-related-traits
#19
Alanna C Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf, Xiaoming Liu, Christie Ballantyne, Josef Coresh, Fuli Yu, Donna Muzny, Elena Feofanova, Navin Rustagi, Richard Gibbs, Eric Boerwinkle
Whole-genome sequencing (WGS) allows for a comprehensive view of the sequence of the human genome. We present and apply integrated methodologic steps for interrogating WGS data to characterize the genetic architecture of 10 heart- and blood-related traits in a sample of 1,860 African Americans. In order to evaluate the contribution of regulatory and non-protein coding regions of the genome, we conducted aggregate tests of rare variation across the entire genomic landscape using a sliding window, complemented by an annotation-based assessment of the genome using predefined regulatory elements and within the first intron of all genes...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#20
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
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