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Cardiac genetic testing

Marcin Kubik, Alicja Dąbrowska-Kugacka, Ewa Lewicka, Ludmiła Daniłowicz-Szymanowicz, Grzegorz Raczak
Left ventricular noncompaction (LVNC) is a unique inherited cardiomyopathy, characterized by an increased risk of adverse cardiovascular events such as heart failure, arrhythmia or sudden cardiac death. Although in comparison to dilated cardiomyopathy, the number of clinical studies concerning LVNC is still small, it is quickly increasing, which reflects a huge effort of the cardiovascular society to develop data to improve understanding of this cardiomyopathy. However, the predictors of adverse outcomes in LVNC are not well established...
March 16, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Mio Noma, Muneaki Matsubara, Chiho Tokunaga, Tomomi Nakajima, Bryan James Mathis, Hiroaki Sakamoto, Yuji Hiramatsu
BACKGROUND: Although pulmonary artery banding (PAB) is a common palliative procedure for pediatric heart malformation, there are concerns of pressure overload and concomitant immune reactions in the right ventricle causing postsurgical complications such as pericardial effusion. At this time, no clear guidelines as to potential risk factors or procedural contraindications have been widely disseminated. Therefore, a study was undertaken to examine wide-ranging factors to find potential biomarkers for postsurgical pericardial effusion formation risk...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Joanna A Pulit-Penaloza, Joyce Jones, Xiangjie Sun, Yunho Jang, Sharmi Thor, Jessica A Belser, Natosha Zanders, Hannah M Creager, Callie Ridenour, Li Wang, Thomas J Stark, Rebecca Garten, Li-Mei Chen, John Barnes, Terrence M Tumpey, David E Wentworth, Taronna R Maines, C Todd Davis
Influenza A(H1) viruses circulating in swine represent an emerging virus threat as zoonotic infections occur sporadically following exposure to swine. A fatal infection caused by an H1N1 variant (H1N1v) virus was detected in a patient with reported exposure to swine and who presented with pneumonia, respiratory failure, and cardiac arrest. To understand the genetic and phenotypic characteristics of the virus, genome sequence analysis, antigenic characterization, and ferret pathogenesis and transmissibility experiments were performed...
March 14, 2018: Journal of Virology
Ali J Marian, Yanli Tan, Lili Li, Jeffrey T Chang, Petros Syrris, Manouchehr Hessabi, Mohammad H Rahbar, James T Willerson, Benjamin Y Cheong, Chia-Ying Liu, Neal S Kleiman, David A Bluemke, Sherif F Nagueh
<u>Rationale:</u> Hypertrophic cardiomyopathy (HCM) is a genetic paradigm of cardiac hypertrophy. Cardiac hypertrophy and interstitial fibrosis are important risk factors for sudden death and morbidity in HCM. Oxidative stress is implicated in the pathogenesis of cardiac hypertrophy and fibrosis. Treatment with anti-oxidant N-acetylcysteine (NAC) reverses cardiac hypertrophy and fibrosis in animal models of HCM. <u>Objective:</u> To determine effect sizes of NAC on indices of cardiac hypertrophy and fibrosis in patients with established HCM...
March 14, 2018: Circulation Research
Juanjuan Zhao, Mathilda T M Mommersteeg
The Slit ligands and their Robo receptors are well-known for their roles during axon guidance in the central nervous system, but are still relatively unknown in the cardiac field. However, data from different animal models suggest a broad involvement of the pathway in many aspects of heart development, from cardiac cell migration and alignment, lumen formation, chamber formation, to the formation of the ventricular septum, semilunar and atrioventricular valves, caval veins and pericardium. Absence of one or more of the genes in the pathway results in defects ranging from bicuspid aortic valves to ventricular septal defects and abnormal venous connections to the heart...
March 10, 2018: Cardiovascular Research
Jan-Michael Abicht, Riccardo Sfriso, Bruno Reichart, Matthias Längin, Katja Gahle, Gisella L Puga Yung, Jörg D Seebach, Robert Rieben, David Ayares, Eckhard Wolf, Nikolai Klymiuk, Andrea Baehr, Alexander Kind, Tanja Mayr, Andreas Bauer
BACKGROUND: In pig-to-human xenotransplantation, early cellular rejection reactions are mediated by natural killer cells (NK cells). Human NK cells are inhibited by HLA-E via CD94/NKG2A receptors. To protect porcine grafts against human NK cell responses, transgenic GTKO pigs expressing hCD46 and HLA-E have been generated. The aim of this study was to test the effect of this genetic modification on xenogeneic, and in particular human NK cell response, using an ex vivo perfusion model of pig hearts with human blood...
March 14, 2018: Xenotransplantation
Evan D Muse, Nathan E Wineinger, Emily G Spencer, Melissa Peters, Riley Henderson, Yunyue Zhang, Paddy M Barrett, Steven P Rivera, Jay G Wohlgemuth, James J Devlin, Dov Shiffman, Eric J Topol
BACKGROUND: Atrial fibrillation (AF) is the most commonly encountered arrhythmia and is associated with an elevated risk of stroke. Improving the identification of patients with the highest risk for AF to enable appropriate surveillance and treatment, if necessary, is critical to reducing AF-associated morbidity and mortality. Multiple common single nucleotide polymorphisms (SNPs) are unequivocally associated with the lifetime risk of AF. In the current study we aimed to prospectively validate an AF genetic risk score (GRS) in previously undiagnosed patients at risk for AF...
March 2018: PLoS Medicine
Babken Asatryan, Argelia Medeiros-Domingo
Inherited primary arrhythmia syndromes are genetically determined disorders of cardiac ion channels or ion channel macromolecular complexes usually associated with a higher risk of sudden cardiac death. These conditions have a very broad spectrum of clinical manifestations, ranging from an asymptomatic course to syncope, atrial and ventricular arrhythmias, and conduction disturbances, but may produce sudden infant death syndrome and unexplained sudden cardiac death in apparently healthy individuals. During the last 20 years, the evolving knowledge on the genetic basis of inherited arrhythmia syndromes has dramatically reshaped our understanding of these conditions and, consequently, had a great impact on patient care...
March 8, 2018: Cardiology in Review
Niccolò Maurizi, Enrico Ammirati, Raffaele Coppini, Amelia Morrone, Iacopo Olivotto
Cardiomyopathies are diseases of the myocardium, often genetically determined, associated with heterogeneous phenotypes and clinical manifestations. Despite significant progress in the understanding of these conditions, available treatments mostly target late complications, whereas approaches that promise to interfere with the primary mechanisms and natural history are just beginning to surface. The last decade has witnessed the establishment of large international cardiomyopathy registries, paralleled by advances in cardiac imaging and genetic testing, deeper understanding of the pathophysiology and growing involvement by the pharmaceutical industry...
April 2018: Heart Failure Clinics
Jodie Ingles, Richard D Bagnall, Christopher Semsarian
Cardiac genetic testing for inherited cardiomyopathies has become a routine aspect of care. Advances in genetic testing technologies have made testing more comprehensive and affordable. With this increase come greater understanding of the genetic basis of these diseases, but also shines a light on the challenges. Ability to ascertain whether a rare variant is causative of disease is problematic. A genetic diagnosis in a family can offer an invaluable tool for cascade genetic testing of at-risk relatives and avenues for reproductive testing options...
April 2018: Heart Failure Clinics
Broes Martens, Michel De Pauw, Jan L De Bleecker
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue. It is most frequently the result of a mutation in the TTR gene, most commonly a p.Val50Met mutation. TTR-FAP is a rare autosomal dominant heritable disabling, heterogeneous disease in which early diagnosis is of pivotal importance when attempting treatment. This paper discusses the course of four Belgian FAP patients with different TTR mutations (p...
March 9, 2018: Acta Neurologica Belgica
Jessica R Golbus, Joanna M Wells, Michael G Dickinson, Scott L Hummel
No abstract text is available yet for this article.
March 5, 2018: American Journal of Medicine
Jesus Mates, Irene Mademont-Soler, Bernat Del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada
Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy)...
March 6, 2018: European Journal of Human Genetics: EJHG
Viorica Chelban, Ekawat Vichayanrat, Lucia Schottlaende, Valeria Iodice, Henry Houlden
The discovery of genetic links between alpha-synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Sarah Morar Schneider, Vidya Sridhar, Amanda K Bettis, Heather Heath-Barnett, Cynthia J Balog-Alvarez, Lee-Jae Guo, Rachel Johnson, Scott Jaques, Stanislav Vitha, Alan C Glowcwski, Joe N Kornegay, Peter P Nghiem
PURPOSE: Metabolic dysfunction in Duchenne muscular dystrophy (DMD) is characterized by reduced glycolytic and oxidative enzymes, decreased and abnormal mitochondria, decreased ATP, and increased oxidative stress. We analyzed glucose metabolism as a potential disease biomarker in the genetically homologous golden retriever muscular dystrophy (GRMD) dog with molecular, biochemical, and in vivo imaging. PROCEDURES: Pelvic limb skeletal muscle and left ventricle tissue from the heart were analyzed by mRNA profiling, qPCR, western blotting, and immunofluorescence microscopy for the primary glucose transporter (GLUT4)...
March 5, 2018: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
Till Huelnhagen, Min-Chi Ku, Henning Matthias Reimann, Teresa Serradas Duarte, Andreas Pohlmann, Bert Flemming, Erdmann Seeliger, Christina Eichhorn, Victor A Ferrari, Marcel Prothmann, Jeanette Schulz-Menger, Thoralf Niendorf
Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the myocardium and bares the risk of progression to heart failure or sudden cardiac death. Identifying patients at risk remains an unmet need. Recognizing the dependence of microscopic susceptibility on tissue microstructure and on cardiac macromorphology we hypothesized that myocardial T2 * might be altered in HCM patients compared to healthy controls. To test this hypothesis, myocardial T2 * -mapping was conducted at 7.0 Tesla to enhance T2 * -contrast...
March 5, 2018: Scientific Reports
Iacopo Olivotto, Gherardo Finocchiaro, Niccolò Maurizi, Lia Crotti
Ventricular or supraventricular ectopic beats or atrial fibrillation may be the first presentation of uncommon cardiac disease, both acquired and genetically determined. In some patients, these manifestations can be the first sign of the underlying cardiac disorder. In others, however, they are also important as prognostic indicators, reflecting electrical instability and risk. Most cardiology clinics are busy environments where the implementation of complex diagnostic algorithms is not feasible. However, it is equally impossible to reach a final diagnosis, among the thousands of rare diseases that involve the heart, moving from a first line clinical and instrumental examination...
April 15, 2018: International Journal of Cardiology
Andrew P Landstrom, Ernesto Fernandez, Jill A Rosenfeld, Yaping Yang, Andrew L Dailey-Schwartz, Christina Y Miyake, Hugh D Allen, Daniel J Penny, Jeffrey J Kim
BACKGROUND: Due to rapid expansion of clinical genetic testing, an increasing number of genetic variants of undetermined significance are being identified in children with unclear diagnostic value. Variants found in genes associated with heritable channelopathies, such as long QT syndrome (LQTS), are particularly difficult to interpret given the risk of sudden cardiac death associated with pathologic mutations. OBJECTIVE: To determine whether variants in LQTS-associated genes from whole exome sequencing (WES) represent disease-associated biomarkers or background genetic "noise...
March 1, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Preben Bjerregaard
Establishing a definition of SQTS including symptomatology and QT interval duration is still a work in progress. It is clear, however, that SQTS is a rare, life-threatening, inherited heart disease presenting as SCD or aborted SCD in 34% and a family history of SCD in 15%. Genetic testing is important in diagnosing the disease, but so far with a causative mutation found in less than 25%. A benign variety of the disease has been observed in children with atrial fibrillation and a KCNH2-V141M mutation, and just recently a mutation in the cardiac Cl,HCO3 - exchanger AE3 was found to cause SQTS...
March 1, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Kathleen T Hickey, Amir Elzomor
The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death. Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families...
2018: AACN Advanced Critical Care
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