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Cardiac genetic testing

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https://www.readbyqxmd.com/read/29773157/genetic-etiology-for-alcohol-induced-cardiac-toxicity
#1
James S Ware, Almudena Amor-Salamanca, Upasana Tayal, Risha Govind, Isabel Serrano, Joel Salazar-Mendiguchía, Jose Manuel García-Pinilla, Domingo A Pascual-Figal, Julio Nuñez, Gonzalo Guzzo-Merello, Emiliano Gonzalez-Vioque, Alfredo Bardaji, Nicolas Manito, Miguel A López-Garrido, Laura Padron-Barthe, Elizabeth Edwards, Nicola Whiffin, Roddy Walsh, Rachel J Buchan, William Midwinter, Alicja Wilk, Sanjay Prasad, Antonis Pantazis, John Baski, Declan P O'Regan, Luis Alonso-Pulpon, Stuart A Cook, Enrique Lara-Pezzi, Paul J Barton, Pablo Garcia-Pavia
BACKGROUND: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. OBJECTIVES: This study sought to evaluate the role of variation in cardiomyopathy-associated genes in the pathophysiology of ACM, and to examine the effects of alcohol intake and genotype on dilated cardiomyopathy (DCM) severity. METHODS: The authors characterized 141 ACM cases, 716 DCM cases, and 445 healthy volunteers...
May 22, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#2
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29759671/yield-and-pitfalls-of-ajmaline-testing-in-the-evaluation-of-unexplained-cardiac-arrest-and-sudden-unexplained-death-single-center-experience-with-482-families
#3
Rafik Tadros, Eline A Nannenberg, Krystien V Lieve, Doris Škorić-Milosavljević, Najim Lahrouchi, Ronald H Lekanne Deprez, Jeroen Vendrik, Yolan J Reckman, Pieter G Postema, Ahmad S Amin, Connie R Bezzina, Arthur A M Wilde, Hanno L Tan
OBJECTIVES: This study evaluated the yield of ajmaline testing and assessed the occurrence of confounding responses in a large cohort of families with unexplained cardiac arrest (UCA) or sudden unexplained death (SUD). BACKGROUND: Ajmaline testing to diagnose Brugada syndrome (BrS) is routinely used in the evaluation of SUD and UCA, but its yield, limitations, and appropriate dosing have not been studied in a large cohort. METHODS: We assessed ajmaline test response and genetic testing results in 637 individuals from 482 families who underwent ajmaline testing for SUD or UCA...
December 11, 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29758173/lack-of-genotype-phenotype-correlation-in-families-who-had-brugada-syndrome-and-sudden-arrhythmic-death-syndrome-with-reported-pathogenic-scn1b-variants
#4
Belinda Gray, Can Hasdemir, Jodie Ingles, Takeshi Aiba, Naomasa Makita, Vincent Probst, Arthur A M Wilde, Ruth Newbury-Ecob, Mary N Sheppard, Christopher Semsarian, Raymond W Sy, Elijah R Behr
BACKGROUND: There is limited evidence that Brugada syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or sudden arrhythmic death syndrome (SADS). OBJECTIVE: We sought to characterize the genotype-phenotype correlation in families who had BrS and SADS with reportedly pathogenic SCN1B variants and to review their pathogenicity. METHODS: Families with BrS and SADS were assessed from 6 inherited arrhythmia centers worldwide, and a comprehensive literature review was performed...
May 3, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29754959/human-induced-pluripotent-stem-cell-derived-cardiac-cell-sheets-expressing-genetically-encoded-voltage-indicator-for-pharmacological-and-arrhythmia-studies
#5
Naim Shaheen, Assad Shiti, Irit Huber, Rami Shinnawi, Gil Arbel, Amira Gepstein, Noga Setter, Idit Goldfracht, Amit Gruber, Snizhanna V Chorna, Lior Gepstein
Fulfilling the potential of human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes for studying conduction and arrhythmogenesis requires development of multicellular models and methods for long-term repeated tissue phenotyping. We generated confluent hiPSC-derived cardiac cell sheets (hiPSC-CCSs), expressing the genetically encoded voltage indicator ArcLight. ArcLight-based optical mapping allowed generation of activation and action-potential duration (APD) maps, which were validated by mapping the same hiPSC-CCSs with the voltage-sensitive dye, Di-4-ANBDQBS...
May 7, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29752375/functional-invalidation-of-putative-sudden-infant-death-syndrome-associated-variants-in-the-kcnh2-encoded-kv11-1-channel
#6
Jennifer L Smith, David J Tester, Allison R Hall, Don E Burgess, Chun-Chun Hsu, Samy Claude Elayi, Corey L Anderson, Craig T January, Jonathan Z Luo, Dustin N Hartzel, Uyenlinh L Mirshahi, Michael F Murray, Tooraj Mirshahi, Michael J Ackerman, Brian P Delisle
BACKGROUND: Heterologous functional validation studies of putative long-QT syndrome subtype 2-associated variants clarify their pathological potential and identify disease mechanism(s) for most variants studied. The purpose of this study is to clarify the pathological potential for rare nonsynonymous KCNH2 variants seemingly associated with sudden infant death syndrome. METHODS: Genetic testing of 292 sudden infant death syndrome cases identified 9 KCNH2 variants: E90K, R181Q, A190T, G294V, R791W, P967L, R1005W, R1047L, and Q1068R...
May 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29750649/cardiac-examination-in-children-with-laron-syndrome-undergoing-mecasermin-therapy
#7
Nurdan Erol, Metin Yıldız, Ayla Güven, Ayse Yıldırım
BACKGROUND: Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS. This study aims to research cardiac findings of children with LS, who receive treatment with mecasermin...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29746361/prolonged-qrs-widening-after-aripiprazole-overdose
#8
Maryann Mazer-Amirshahi, Robert Porter, Kayla Dewey
BACKGROUND: Aripiprazole is an atypical antipsychotic with a long half-life. Overdose can result in protracted somnolence and cardiac disturbances, particularly QT interval prolongation. METHODS: This is a single case report of a 14-year-old boy who took an overdose of aripiprazole and developed QRS widening. CASE: A 14-year-old boy intentionally ingested 20 tablets of aripiprazole (5 mg). He was brought to the emergency department when his ingestion was discovered...
May 5, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29745509/-research-on-malignant-arrhythmia-detection-algorithm-using-neural-network-optimized-by-genetic-algorithm
#9
Ming Yu, Feng Chen, Guang Zhang, Liangzhe Li, Chunchen Wang, Ningbo Zhan, Biao Gu, Jing Wei, Taihu Wu
Detection and classification of malignant arrhythmia are key tasks of automated external defibrillators. In this paper, 21 metrics extracted from existing algorithms were studied by retrospective analysis. Based on these metrics, a back propagation neural network optimized by genetic algorithm was constructed. A total of 1,343 electrocardiogram samples were included in the analysis. The results of the experiments indicated that this network had a good performance in classification of sinus rhythm, ventricular fibrillation, ventricular tachycardia and asystole...
June 1, 2017: Sheng Wu Yi Xue Gong Cheng Xue za Zhi, Journal of Biomedical Engineering, Shengwu Yixue Gongchengxue Zazhi
https://www.readbyqxmd.com/read/29743074/genetic-analyses-in-a-cohort-of-191-pulmonary-arterial-hypertension-patients
#10
Hang Yang, Qixian Zeng, Yanyun Ma, Bingyang Liu, Qianlong Chen, Wenke Li, Changming Xiong, Zhou Zhou
BACKGROUND: Pulmonary arterial hypertension (PAH) is a progressive and fatal disorder associated with high pulmonary artery pressure. Genetic testing enables early diagnosis and offers an opportunity for family screening. To identify genetic mutations and help make a precise diagnosis, we performed genetic testing in 191 probands with PAH and tried to analyze the genotype-phenotype correlation. METHODS: Initially, PAH samples (n = 119) were submitted to BMPR2 screening using Sanger sequencing...
May 9, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29741282/restrictive-cardiomyopathy-an-unusual-phenotype-of-a-lamin-a-variant
#11
Mark S Paller, Cindy M Martin, Mary Ella Pierpont
Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presenting with conduction defects followed by cardiac dysfunction of a restrictive nature eventually requiring cardiac transplantation is described. Subsequently, progressive skeletal muscle weakness became evident. The finding of a new LMNA pathologic gene variant in this patient increases the options for genetic testing of individuals with restrictive cardiomyopathy...
May 9, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29733784/hypertrophic-cardiomyopathy-a-complex-disease
#12
REVIEW
Laura Young, Nicholas G Smedira, Albree Tower-Rader, Harry Lever, Milind Y Desai
Hypertrophic cardiomyopathy (HCM) is a complex cardiovascular disease with wide phenotypic variations. Despite significant advances in imaging and genetic testing, more information is needed about the roles and implications of these resources in clinical practice. Patients with suspected or established HCM should be evaluated at an expert referral center to allow for the best multidisciplinary care. Research is needed to better predict the risk of sudden cardiac death in those judged to be at low risk by current risk-stratification methods...
May 2018: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/29728395/-scn5a-na-v-1-5-variant-functional-perturbation-and-clinical-presentation-variants-of-a-certain-significance
#13
Brett M Kroncke, Andrew M Glazer, Derek K Smith, Jeffrey D Blume, Dan M Roden
BACKGROUND: Accurately predicting the impact of rare nonsynonymous variants on disease risk is an important goal in precision medicine. Variants in the cardiac sodium channel SCN5A (protein NaV 1.5; voltage-dependent cardiac Na+ channel) are associated with multiple arrhythmia disorders, including Brugada syndrome and long QT syndrome. Rare SCN5A variants also occur in ≈1% of unaffected individuals. We hypothesized that in vitro electrophysiological functional parameters explain a statistically significant portion of the variability in disease penetrance...
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29728175/congenital-and-iatrogenic-laryngeal-and-vocal-abnormalities-in-patients-with-22q11-2-deletion
#14
Bridget Ebert, James Sidman, Noelle Morrell, Brianne Barnett Roby
BACKGROUND: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation. OBJECTIVE: To analyze voice and vocal fold abnormalities in patients with 22q11.2 deletion by examining voice, not speech. METHODS: This is a case series with chart review from 2009 to 2016. Records of both a velocardiofacial syndrome (VCF) clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29705385/diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-progress-and-pitfalls
#15
REVIEW
Ad W G J Oomen, Christopher Semsarian, Rajesh Puranik, Raymond W Sy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing)...
April 4, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29705154/genetic-mutations-of-young-patients-admitted-to-an-emergency-department-for-syncope-during-sport-practice
#16
Jorge Gómez Alcaraz, José Bustamante, Ervigio Corral, Maria Isabel Casado Florez, David Vivas, Victoria Cañadas-Godoy, Juan González Del Castillo, Juan Jorge González Armengol, Antonio López-Farré, Francisco Javier Martín Sánchez
BACKGROUND AND OBJECTIVES: To study the frequency of genetic mutations related to genetic heart disease among young patients admitted for syncope during sport practice. PATIENTS AND METHODS: A case series study that included patients≤45 years admitted for syncope during sport practice during 2010-2011. We collected demographic and clinical variables, genetic tests mutations and final clinical diagnosis. RESULTS: A genetic test was performed in 46 (76...
April 25, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29704693/cardiac-arrest-during-spine-surgery-in-the-prone-position-case-report-and-review-of-the-literature
#17
REVIEW
Victor E Staartjes, Shiva A Schillevoort, Patricia G Blum, J Peter van Tintelen, Wouter E Kok, Marc L Schröder
OBJECTIVE: Intraoperative cardiac arrest (CA) is usually attributable to pre-existing disease, or to intraoperative complications. In rare cases, intraoperative stress can demask certain genetic diseases, such as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). It is essential that neurosurgeons are aware of the etiologies, risk factors, and initial management of CA during surgery in the prone position. METHODS: We present a case of CA directly after spinal fusion for lumbar spondylolisthesis, and review the literature on cardiac arrests during spinal neurosurgery in the prone position...
April 26, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29699389/a-synopsis-on-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#18
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Results: Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
April 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29688911/tranilast-blunts-the-hypertrophic-and-fibrotic-response-to-increased-afterload-independent-of-cardiomyocyte-transient-receptor-potential-vanilloid-2-channels
#19
Sheryl E Koch, Michelle L Nieman, Nathan Robbins, Samuel Slone, Mariah Worley, Lisa C Green, Yamei Chen, Alexandria Barlow, Michael Tranter, HongSheng Wang, John N Lorenz, Jack Rubinstein
Tranilast is clinically indicated for the treatment of allergic disorders and is also a non-selective blocker of the Transient Receptor Potential Vanilloid 2 (TRPV2) channel. Prior studies have found that it has protective effects in various animal models of cardiac disease. Our laboratory has found that genetic deletion of TRPV2 results in a blunted hypertrophic response to increased afterload, thus this study tested the hypothesis that tranilast through cardiomyocyte TRPV2 blockade can inhibit the hypertrophic response to pressure overload in-vivo via transverse aortic constriction and ex vivo via isolated myocyte studies...
April 20, 2018: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/29688316/diagnostic-and-therapeutic-strategies-for-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-patient
#20
Weijia Wang, Cynthia A James, Hugh Calkins
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited heart muscle disease characterized by ventricular tachyarrhythmia, predominant right ventricular dysfunction, and sudden cardiac death. Its pathophysiology involves close interaction between genetic mutations and exposure to physical activity. Mutations in genes encoding desmosomal protein are the most common genetic basis. Genetic testing plays important roles in diagnosis and screening of family members. Syncope, palpitation, and lightheadedness are the most common symptoms...
April 23, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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