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Cardiac genetic testing

Xiaoling Yuan, Zifeng Dong
BACKGROUND Ischemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few. MATERIAL AND METHODS In order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms...
October 22, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Assila Ben Salem, Fatma Megdich, Olfa Kacem, Malek Souayeh, Faten Hachani Ben Ali, Sondes Hizem, Faouzi Janhai, Mounir Ajina, Muhammad Abu-Elmagd, Mourad Assidi, Mohammed H Al Qahtani, Touhami Mahjoub
BACKGROUND: Polycystic ovary syndrome (PCOS) is characterized by the growth of a number of small cysts on the ovaries which leads to sex hormonal imbalance. Women who are affected by this syndrome suffer from irregular menstrual cycles, decline in their fertility, excessive hair growth, obesity, acne and most importantly cardiac function problems. The vascular endothelial growth factor (VEGF) plays a pivotal role in tissue vascularization in general and in the pathogenesis of many diseases...
October 17, 2016: BMC Genomics
Worawan B Limpitikul, Ivy E Dick, David Tester, Nicole J Boczek, Pattraranee Limphong, Wanjun Yang, Myoung Hyun Choi, Jennifer Babich, Deborah DiSilvestre, Ronald J Kanter, Gordon F Tomaselli, Michael J Ackerman, David Yue
RATIONALE: Calmodulinopathies comprise a new category of potentially life-threatening genetic arrhythmia syndromes capable of producing severe long QT syndrome (LQTS) with mutations involving either CALM1, CALM2, or CALM3 The underlying basis of this form of LQTS is a disruption of Ca(2+)/CaM-dependent inactivation (CDI) of L-type Ca(2+) channels (LTCCs). OBJECTIVE: To gain insight into the mechanistic underpinnings of calmodulinopathies and devise new therapeutic strategies for the treatment of this form of LQTS...
October 20, 2016: Circulation Research
Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jyh-Ming Jimmy Juang, Minoru Horie
In 1992, the Brugada syndrome (BrS) was recognized as a disease responsible for sudden cardiac death, characterized by a right bundle-branch block with ST segment elevation in the leads V1 and V2. This syndrome is highly associated with sudden cardiac death, especially in young males. BrS is currently diagnosed in patients with ST-segment elevation showing type 1 morphology ≥ 2 mm in ≥1 leads among the right precordial leads V1 or V2 positioned in the 2nd, 3rd, or 4th intercostal space, and occurring either spontaneously or after a provocative drug test by the intravenous administration of Class I antiarrhythmic drugs...
October 2016: Journal of Arrhythmia
Yuka Mizusawa
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits...
October 2016: Journal of Arrhythmia
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
Martino Deidda, Rosalinda Madonna, Ruggiero Mango, Pasquale Pagliaro, Pier P Bassareo, Lucia Cugusi, Silvio Romano, Maria Penco, Francesco Romeo, Giuseppe Mercuro
Despite advances in supportive and protective therapy for myocardial function, heart failure caused by various clinical conditions, including cardiomyopathy due to antineoplastic therapy, remains a major cause of morbidity and mortality. Because of the limitations associated with current therapies, investigators have been searching for alternative treatments that can effectively repair the damaged heart and permanently restore its function. Damage to the heart can result from both traditional chemotherapeutic agents, such as anthracyclines, and new targeted therapies, such as trastuzumab...
May 2016: Journal of Cardiovascular Medicine
Daoyan Liu
OBJECTIVE: Increased transient receptor potential canonical type 3 (TRPC3) channels have been observed in essential hypertensive patients and spontaneously hypertensive rats (SHR). Our previous study shows that mitochondrial respiratory dysfunctions of blood mononuclear cells link with cardiac disturbance in patients with early-stage heart failure. Telmisartan has beneficial effect on both hypertension and metabolic syndrome. In the present study we tested the hypothesis that telmisartan administration inhibited mitochondrial respiratory function was associated with decreased TRPC3 function in monocytes from genetic hypertensive rats (SHR)...
September 2016: Journal of Hypertension
Yanina Timasheva, Timur Nasibullin, Elvira Imaeva, Gulchagra Mirsaeva, Olga Mustafina
OBJECTIVE: Systemic inflammation and impaired function of endothelium play a significant role in the development of blood pressure elevation. The population of Tatars residing in the Volga-Ural region of Russia is characterized by a unique combination of European and Asian genetic ancestry, and is an interesting object for genetic study. Our aim was to analyze an association between essential hypertension and the polymorphic markers of genes encoding for molecules involved in blood pressure control and the regulation of endothelial function and inflammation in the group of 530 Tatars from the Republic of Bashkortostan, Russia...
September 2016: Journal of Hypertension
Harish Petnikota, Vrisha Madhuri, Sangeet Gangadharan, Indira Agarwal, Belavendra Antonisamy
BACKGROUND: Muscular dystrophies are inherited myogenic disorders characterized by progressive muscle wasting and weakness of variable distribution and severity. They are a heterogeneous group characterized by variable degree of skeletal and cardiac muscle involvement. The most common and the most severe form of muscular dystrophy is DMD. Currently, there is no curative treatment for muscular dystrophies. Several drugs have been studied to retard the progression of the muscle weakness...
September 2016: Indian Journal of Orthopaedics
Daniel F Gudbjartsson, Hilma Holm, Patrick Sulem, Gisli Masson, Asmundur Oddsson, Olafur Th Magnusson, Jona Saemundsdottir, Hafdis Th Helgadottir, Hannes Helgason, Hrefna Johannsdottir, Solveig Gretarsdottir, Sigurjon A Gudjonsson, Inger Njølstad, Maja-Lisa Løchen, Larry Baum, Ronald C W Ma, Gunnlaugur Sigfusson, Augustine Kong, Guðmundur Thorgeirsson, Jon Th Sverrisson, Unnur Thorsteinsdottir, Kari Stefansson, David O Arnar
AIMS: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It is increasingly recognized as a highly heritable condition. This study aimed to determine genetic risk factors for early-onset AF. METHODS AND RESULTS: We sequenced the whole genomes of 8453 Icelanders and imputed genotypes of the 25.5 million sequence variants we discovered into 1799 Icelanders with early-onset AF (diagnosed before 60 years of age) and 337 453 controls...
October 14, 2016: European Heart Journal
Torsten Konrad, Sebastian Sonnenschein, Frank Patrick Schmidt, Hanke Mollnau, Karsten Bock, Blanca Quesada Ocete, Thomas Münzel, Cathrin Theis, Thomas Rostock
AIMS: Different cardiac arrhythmias have been suggested to be associated with Danon disease, e.g. Wolff-Parkinson-White syndrome. However, a systematic electrophysiological investigation of patients with Danon disease is lacking thus far. METHODS AND RESULTS: Seven patients with Danon disease (4 males, 35.8 ± 10.8 years; 3 females, 51.3 ± 19.9 years) from 3 different families were studied. In all patients, the presence of Danon disease was confirmed by western blot of biopsy material or genetic testing...
October 14, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
K V Firsov, A S Kotov
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Hong-Hao Yu, Heng Zhao, Yu-Bo Qing, Wei-Rong Pan, Bao-Yu Jia, Hong-Ye Zhao, Xing-Xu Huang, Hong-Jiang Wei
Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic testing because of the different pathological manifestations. Miniature pigs share similar physiology and anatomy with humans and are thus an excellent animal model of human disease...
October 9, 2016: International Journal of Molecular Sciences
Marloes Visser, Jeroen F van der Heijden, Jasper J van der Smagt, Pieter A Doevendans, Arthur A Wilde, Peter Loh, Rutger J Hassink
BACKGROUND: Idiopathic ventricular fibrillation (IVF) is a rare cause of sudden cardiac arrest. Limited data are available on the long-term outcome of IVF patients. METHODS AND RESULTS: In this retrospective cohort study, 107 consecutive patients with an initial diagnosis of IVF were analyzed (age at index event 40.4 years, 60% male). Missing diagnostic data were acquired during follow-up, including genetic testing, to exclude underlying disease. A specific diagnosis was revealed in 22 of 107 patients (21%) during a median follow-up of 10...
October 2016: Circulation. Arrhythmia and Electrophysiology
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Joanna Martenka, Krystyna Soszyńska
Apolipoprotein E is a transport protein, which by binding to lipids forms a lipoprotein particle. It is responsible for transport and redistribution of lipids between cells and tissues. Apolipoprotein E circulates in blood mainly as a component of VLDL (very low density lipoproteins) HDL (high density lipoproteins) chylomicrons and chylomicron remnants. It assists in the flow of cholesterol from peripheral cells to extracellular space. Apolipoprotein E is one of the most studied apolipoproteins. There are three isoforms of this protein: E2, E3 and E4...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Francesco Lodola, Diego Morone, Marco Denegri, Rossana Bongianino, Hiroko Nakahama, Lucia Rutigliano, Rosanna Gosetti, Giulia Rizzo, Alessandra Vollero, Michelangelo Buonocore, Carlo Napolitano, Gianluigi Condorelli, Silvia G Priori, Elisa Di Pasquale
Catecholaminergic Polymorphic Ventricular Tachycardia type 2 (CPVT2) is a highly lethal recessive arrhythmogenic disease caused by mutations in the calsequestrin-2 (CASQ2) gene. We have previously demonstrated that viral transfer of the wild-type (WT) CASQ2 gene prevents the development of CPVT2 in a genetically induced mouse model of the disease homozygous carrier of the R33Q mutation. In the present study, we investigated the efficacy of the virally mediated gene therapy in cardiomyocytes (CMs) differentiated from induced pluripotent stem cells (iPSCs) obtained from a patient carrying the homozygous CASQ2-G112+5X mutation...
October 6, 2016: Cell Death & Disease
Yanushi D Wijeyeratne, Elijah R Behr
Approximately 4% of sudden cardiac deaths are unexplained [the sudden arrhythmic death syndrome (SADS)], and up to 6-10% of survivors of cardiac arrest do not have an identifiable cardiac abnormality after comprehensive clinical evaluation [idiopathic ventricular fibrillation (IVF)]. Genetic testing may be able to play a role in diagnostics and can be targeted to an underlying phenotype present in family members following clinical evaluation. Alternatively, post-mortem genetic testing (the "molecular autopsy") may diagnose the underlying cause if a clearly pathogenic rare variant is found...
August 31, 2016: Trends in Cardiovascular Medicine
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