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Cardiac genetic testing

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https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#1
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27885498/prognostic-predictive-value-of-gene-mutations-in-japanese-patients-with-hypertrophic-cardiomyopathy
#2
Ayako Chida, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani, Yoshiyuki Furutani, Yoichi Kawamura, Masaya Sugimoto, Jun Ishihara, Masako Fujiwara, Takashi Soga, Masatoshi Kawana, Shinya Fuji, Shigeru Tateno, Kenji Kuraishi, Shigetoyo Kogaki, Mitsuhiro Nishimura, Mamoru Ayusawa, Fukiko Ichida, Hirokuni Yamazawa, Rumiko Matsuoka, Shigeaki Nonoyama, Toshio Nakanishi
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes...
November 24, 2016: Heart and Vessels
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#3
REVIEW
Roddy Walsh, Stuart A Cook
BACKGROUND: Inherited cardiac conditions are a relatively common group of Mendelian diseases associated with ill health and death, often in the young. Research into the genetic causes of these conditions has enabled confirmatory and predictive diagnostic sequencing to become an integral part of the clinical management of inherited cardiomyopathies, arrhythmias, aortopathies, and dyslipidemias. CONTENT: Currently, the principle benefit of clinical genetic testing is the cascade screening of family members of patients with a pathogenic variant, enabling targeted follow up of presymptomatic genotype-positive individuals and discharge of genotype-negative individuals to health...
November 22, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27873215/current-and-future-treatment-approaches-in-transthyretin-familial-amyloid-polyneuropathy
#4
REVIEW
Philippe Kerschen, Violaine Planté-Bordeneuve
Treatment of transthyretin familial amyloid polyneuropathy (TTR FAP) must be tailored to disease stage. Patients with early stage disease (i.e., without major impairment in walking ability), especially younger patients, should be referred as soon as possible for liver transplantation (LT) in the absence of major comorbid conditions. LT remains the most effective treatment option to date and should be offered to these patients as early as possible. Bridging therapy with an oral TTR stabilizer (tafamidis or diflunisal, according to local access to these treatments) should be started as soon as the diagnosis of TTR FAP is established...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27871843/considerations-when-using-next-generation-sequencing-for-genetic-diagnosis-of-long-qt-syndrome-in-the-clinical-testing-laboratory
#5
Hyojin Chae, Jiyeon Kim, Gun Dong Lee, Woori Jang, Joonhong Park, Dong Wook Jekarl, Yong Seog Oh, Myungshin Kim, Yonggoo Kim
BACKGROUND: Congenital long-QT syndrome (LQTS) is a potentially lethal cardiac electrophysiologic disorder characterized by QT interval prolongation and T-wave abnormalities. At least 13 LQTS-associated genes have been reported, but the high cost and low throughput of conventional Sanger sequencing has hampered the multi-gene-based LQTS diagnosis in clinical laboratories. METHODS: We developed an NGS (next-generation sequencing)-based targeted gene panel for 13 LQTS genes using the Ion PGM platform, and a cohort of 36 LQTS patients were studied for characterization of analytical performance specifications...
November 18, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27868338/incomplete-timothy-syndrome-secondary-to-a-mosaic-mutation-of-the-cacna1c-gene-diagnosed-using-next-generation-sequencing
#6
Amandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, Elisabeth Villain, Caroline Bonnet, Christel Thauvin-Robinet, Caroline Jacquot, Jean-Christophe Eicher, Jean-Baptiste Gourraud, Sébastien Schmitt, Stéphane Bézieau, Mathilde Giraud, Solenne Dumont, Paul Kuentz, Vincent Probst, Antoine Burguet, Florence Kyndt, Laurence Faivre
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868291/tagging-polymorphisms-of-methyl-cpg-binding-domain-4-and-gastric-cardiac-adenocarcinoma-risk-in-a-chinese-population
#7
Xu Wang, Changqing Dong, Jun Yin, Weifeng Tang, Zhenya Shen
Potential effects of genetic factors on carcinogenesis of gastric cardiac adenocarcinoma (GCA) may exist. The present experiment specifically evaluated the genetic influence of single nucleotide in methyl-CpG binding domain 4 (MBD4) on GCA tumorigenesis. A case-control experiment based on hospital recruited 330 GCA patients and 608 non-cancer patients was carried out. We employed ligation detection reaction method to detect the genotypes. The results revealed that MBD4 rs3138373, rs2005618, and rs3138355 mutations had no significant association with the risk of GCA...
November 21, 2016: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/27863892/pericarditis-mimicking-brugada-syndrome-a-case-report
#8
Manuel Monti, Giulia Olivi, Francesca Francavilla, Francesco Borgognoni
INTRODUCTION: Brugada syndrome (BrS) is a genetic heart disorder due to alteration of the ion channels function that causes an impaired in the cardiac conduction system. It is characterized by an abnormal electrocardiogram pattern and may be complicated by malignant ventricular arrhythmias. Pericarditis is an inflammation of the pericardium and 90% of isolated cases of acute pericarditis are idiopathic or viral. Acute pericarditis may appears with chest pain, fever, pericardial friction rub, and cardiac tamponade...
November 9, 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27861187/genetic-testing-in-cardiomyopathies-an-update-on-indications-and-benefits
#9
Natasha Aleksova, Julie Rutberg, Martin Green, Haissam Haddad
PURPOSE OF REVIEW: As rapid genetic testing has become increasingly accessible in a timely fashion, more genetic mutations are identified in inherited conditions such as cardiomyopathies. Understanding when to consider genetic testing is an important part of the management of patients whose presentations vary from decompensated heart failure to sudden cardiac death. RECENT FINDINGS: We describe the benefits of genetic testing for risk stratification of family members, prognostication of probands, and identification of novel disease-causing mutations and examine the possible role of genetic predisposition in seemingly acquired cardiomyopathies such as peripartum and anthracycline-induced cardiomyopathy...
November 18, 2016: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/27857240/detection-of-sudden-death-syndromes-in-new-zealand
#10
Nikki Earle, Jackie Crawford, Kate Gibson, Donald Love, Ian Hayes, Katherine Neas, Martin Stiles, Mandy Graham, Tom Donoghue, Andrew Aitken, Jon Skinner
AIM: To investigate regional variations in the detection of sudden death syndromes across New Zealand by assessing registrations in the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ). METHODS: The CIDRNZ has been a national entity since 2009, with a hub in Auckland and locally funded regional coordinators (Midland, Central) linked with multidisciplinary cardiac genetic teams. Registration is consent-based and voluntary, and involves the collection of clinical/genetic information and permits genetic testing and research...
November 18, 2016: New Zealand Medical Journal
https://www.readbyqxmd.com/read/27835942/detection-of-a-novel-circovirus-pcv3-in-pigs-with-cardiac-and-multi-systemic-inflammation
#11
Tung Gia Phan, Federico Giannitti, Stephanie Rossow, Douglas Marthaler, Todd Knutson, Linlin Li, Xutao Deng, Talita Resende, Fabio Vannucci, Eric Delwart
BACKGROUND: Porcine circovirus 2 causes different clinical syndromes resulting in a significant economic loss in the pork industry. Three pigs with unexplained cardiac and multi-organ inflammation that tested negative for PCV2 and other known porcine pathogens were further analyzed. METHODS: Histology was used to identify microscopic lesions in multiple tissues. Metagenomics was used to detect viral sequences in tissue homogenates. In situ hybridization was used to detect viral RNA expression in cardiac tissue...
November 11, 2016: Virology Journal
https://www.readbyqxmd.com/read/27834932/functional-studies-and-in-silico-analyses-to-evaluate-non-coding-variants-in-inherited-cardiomyopathies
#12
Giulia Frisso, Nicola Detta, Pamela Coppola, Cristina Mazzaccara, Maria Rosaria Pricolo, Antonio D'Onofrio, Giuseppe Limongelli, Raffaele Calabrò, Francesco Salvatore
Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not predictable. The aim of this study was to functionally test five intronic variants (MYBPC3-c.506-2A>C, MYBPC3-c...
November 10, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27818009/use-of-the-six-minute-walk-test-to-characterize-golden-retriever-muscular-dystrophy
#13
Austin R Acosta, Emiko Van Wie, William B Stoughton, Amanda K Bettis, Heather H Barnett, Nicholas R LaBrie, Cynthia J Balog-Alvarez, Peter P Nghiem, Kevin J Cummings, Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder in which loss of the dystrophin protein causes progressive skeletal/cardiac muscle degeneration and death within the third decade. For clinical trials and supportive animal studies, DMD disease progression and response to treatment must be established using outcome parameters (biomarkers). The 6-minute walk test (6MWT), defined as the distance an individual can walk in 6 minutes, is commonly used in DMD clinical trials and has been employed in dogs to characterize cardiac and respiratory disease severity...
October 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27816473/characterization-of-soluble-n-ethylmaleimide-sensitive-factor-attachment-protein-receptor-gene-stx18-variations-for-possible-roles-in-congenital-heart-diseases
#14
Xia Li, Shuai Shi, Fei-Feng Li, Rui Cheng, Ying Han, Li-Wei Diao, Qiong Zhang, Ji-Xin Zhi, Shu-Lin Liu
Congenital heart disease (CHD) is among the most prevalent and complex congenital anatomic malformations in newborns. Interactions of cardiac progenitor with a broad range of cellular regulatory factors play key roles in the formation of mammalian heart and pathogenesis of CHD. STX18 is a soluble N-ethylmaleimide-sensitive factor attachment protein receptor, which is involved in numeral cellular activities such as organelle assembly and the cell cycle. The aim of this work was to find evidence on whether STX18 variations might be associated with CHD in Chinese Han populations...
November 2, 2016: Gene
https://www.readbyqxmd.com/read/27812765/-esped-survey-tsc-disease-in-children-and%C3%A2-adolescents-preliminary-results-from-a%C3%A2-german%C3%A2-epidemiological-survey
#15
Lilian Mann, Daniel Ebrahimi-Fakhari, Beate Heinrich, Marina Flotats-Bastardas, Ludwig Gortner, Alexander von Gontard, Justine Niemcyzk, Martin Poryo, Sascha Meyer
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3...
November 3, 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27807682/dilated-cardiomyopathy-as-the-only-clinical-manifestation-of-carnitine-transporter-deficiency
#16
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Vaia Dokousli, Maria Eboriadou, Athanasios Evangeliou
The authors present a case of carnitine transporter deficiency, which was unmasked after an episode of respiratory distress resistant to treatment with bronchodilators. Chest radiograph showed cardiomegaly; electrocardiogram showed left ventricular hypertrophy and echocardiography revealed dilated cardiomyopathy. Heart failure therapy was initiated and metabolic screening was requested, as family history was indicative of inborn errors of metabolism. Very low levels of free carnitine and carnitine esters in blood were found and genetic testing confirmed the diagnosis of carnitine transporter deficiency...
November 3, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27806113/inhibiting-extracellular-vesicle-release-from-human-cardiosphere-derived-cells-with-lentiviral-knockdown-of-nsmase2-differentially-effects-proliferation-and-apoptosis-in-cardiomyocytes-fibroblasts-and-endothelial-cells-in-vitro
#17
Jennifer K Lang, Rebeccah F Young, Hashmat Ashraf, John M Canty
Numerous studies have shown a beneficial effect of cardiosphere-derived cell (CDC) therapy on regeneration of injured myocardium. Paracrine signaling by CDC secreted exosomes may contribute to improved cardiac function. However, it has not yet been demonstrated by a genetic approach that exosome release contributes to the therapeutic effect of transplanted CDCs. By employing a lentiviral knockdown (KD) strategy against neutral spingomyelinase 2 (nSMase2), a crucial gene in exosome secretion, we have defined the role of physiologically secreted human CDC-derived exosomes on cardiac fibroblast, endothelial cell and primary cardiomyocyte proliferation, cell death, migration and angiogenesis using a series of in vitro coculture assays...
2016: PloS One
https://www.readbyqxmd.com/read/27798053/relationship-between-aetiology-and-left-ventricular-systolic-dysfunction-in-hypertrophic-cardiomyopathy
#18
Stefania Rosmini, Elena Biagini, Costantinos O'Mahony, Heerajnarain Bulluck, Niccolo' Ruozi, Luis R Lopes, Oliver Guttmann, Patricia Reant, Cristina C Quarta, Antonis Pantazis, Maria Tome-Esteban, William J Mckenna, Claudio Rapezzi, Perry M Elliott
BACKGROUND: Severe left ventricular (LV) systolic dysfunction is an uncommon complication of hypertrophic cardiomyopathy (HCM) that is associated with poor prognosis. Small observational series suggest that patients with rare causes of HCM are more likely to develop systolic impairment than those with idiopathic disease or mutations in cardiac sarcomeric protein genes. The aim of this study was to test this hypothesis by comparing the prevalence of systolic dysfunction and its impact on prognosis in patients with different causes of HCM...
October 24, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27794172/clinical-aspects-of-prenatally-detected-congenital-heart-malformations-and-the-yield-of-chromosomal-microarray-analysis
#19
Rivka Sukenik-Halevy, Shay Sukenik, Arie Koifman, Yoav Alpert, Reli Hershkovitz, Alex Levi, Tal Biron-Shental
OBJECTIVE: The yield of chromosomal microarray analysis (CMA) for prenatally detected congenital heart defects (CHD) is 6.6-19.2%. We evaluated the yield of CMA in cases of prenatally detected CHD in regard to specific clinical characteristics. METHODS: Data from 192 cases of CHD including type, clinical and familial background, work-up performed during the pregnancy, and pregnancy outcomes were collected. RESULTS: Fetal echocardiography was performed in all cases...
October 28, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27779762/differential-roles-of-two-delayed-rectifier-potassium-currents-in-regulation-of-ventricular-action-potential-duration-and-arrhythmia-susceptibility
#20
Ryan A Devenyi, Francis A Ortega, Willemijn Groenendaal, Trine Krogh-Madsen, David J Christini, Eric A Sobie
Imbalances of ionic currents can destabilize the cardiac action potential and potentially trigger lethal cardiac arrhythmias. Here we combined mathematical modeling with information-rich dynamic-clamp experiments to elucidate regulation of action potential morphology in guinea pig ventricular myocytes. Parameter sensitivity analysis was used to predict how changes in ionic currents alter action potential duration, and these were tested experimentally using dynamic clamp, a technique that allows for multiple perturbations to be tested in each cell...
October 24, 2016: Journal of Physiology
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