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Cardiac genetics

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https://www.readbyqxmd.com/read/28214885/signaling-pathway-for-endothelin-1-and-phenylephrine-induced-camp-response-element-binding-protein-activation-in-rat-ventricular-myocytes-role-of-inositol-1-4-5-trisphosphate-receptors-and-camkii
#1
Krishna P Subedi, Min-Jeong Son, Bojjibabu Chidipi, Seong-Woo Kim, Jun Wang, Kyeong-Hee Kim, Sun-Hee Woo, Joon-Chul Kim
BACKGROUND/AIMS: Endothelin-1 (ET-1) and the α<Sub>1</Sub>-adrenoceptor agonist phenylephrine (PE) activate cAMP response element binding protein (CREB), a transcription factor implicated in cardiac hypertrophy. The signaling pathway involved in CREB activation by these hypertrophic stimuli is poorly understood. We examined signaling pathways for ET-1- or PE-induced cardiac CREB activation. METHODS: Western blotting was performed with pharmacological and genetic interventions in rat ventricular myocytes...
January 26, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28214153/arrhythmogenic-right-ventricular-dysplasia-atypical-clinical-presentation
#2
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
#3
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/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#4
Horacio Márquez-González, Diana López-Gallegos, Nataly Alejandra Pérez-Velázquez, Lucelli Yáñez-Gutiérrez
BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#5
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
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/28205173/measurement-of-mitochondrial-cholesterol-import-using-a-mitochondria-targeted-cyp11a1-fusion-construct
#7
Barry E Kennedy, Mark Charman, Barbara Karten
All animal membranes require cholesterol as an essential regulator of biophysical properties and function, but the levels of cholesterol vary widely among different subcellular compartments. Mitochondria, and in particular the inner mitochondrial membrane, have the lowest levels of cholesterol in the cell. Nevertheless, mitochondria need cholesterol for membrane maintenance and biogenesis, as well as oxysterol, steroid, and hepatic bile acid production. Alterations in mitochondrial cholesterol have been associated with a range of pathological conditions, including cancer, hepatosteatosis, cardiac ischemia, Alzheimer's, and Niemann-Pick Type C Disease...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28204831/tachycardia-bradycardia-syndrome-electrophysiological-mechanisms-and-future-therapeutic-approaches-review
#8
Gary Tse, Tong Liu, Ka Hou Christien Li, Victoria Laxton, Andy On-Tik Wong, Yin Wah Fiona Chan, Wendy Keung, Camie W Y Chan, Ronald A Li
Sick sinus syndrome (SSS) encompasses a group of disorders whereby the heart is unable to perform its pacemaker function, due to genetic and acquired causes. Tachycardia‑bradycardia syndrome (TBS) is a complication of SSS characterized by alternating tachycardia and bradycardia. Techniques such as genetic screening and molecular diagnostics together with the use of pre-clinical models have elucidated the electrophysiological mechanisms of this condition. Dysfunction of ion channels responsible for initiation or conduction of cardiac action potentials may underlie both bradycardia and tachycardia; bradycardia can also increase the risk of tachycardia, and vice versa...
March 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28203206/mild-and-short-term-caloric-restriction-prevents-obesity-induced-cardiomyopathy-in-young-zucker-rats-without-changing-in-metabolites-and-fatty-acids-cardiac-profile
#9
Gema Ruiz-Hurtado, Concha F García-Prieto, Helena Pulido-Olmo, Juan P Velasco-Martín, Palmira Villa-Valverde, María E Fernández-Valle, Lisardo Boscá, María Fernández-Velasco, Javier Regadera, Beatriz Somoza, María S Fernández-Alfonso
Caloric restriction (CR) ameliorates cardiac dysfunction associated with obesity. However, most of the studies have been performed under severe CR (30-65% caloric intake decrease) for several months or even years in aged animals. Here, we investigated whether mild (20% food intake reduction) and short-term (2-weeks) CR prevented the obese cardiomyopathy phenotype and improved the metabolic profile of young (14 weeks of age) genetically obese Zucker fa/fa rats. Heart weight (HW) and HW/tibia length ratio was significantly lower in fa/fa rats after 2 weeks of CR than in counterparts fed ad libitum...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28202948/identification-of-pathogenic-variants-in-genes-related-to-channelopathy-and-cardiomyopathy-in-korean-sudden-cardiac-arrest-survivors
#10
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-Jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki, Young Keun On
Pathogenic variants in genes related to channelopathy and cardiomyopathy are the most common cause of sudden unexplained cardiac death. However, few reports have investigated the frequency and/or spectrum of pathogenic variants in these genes in Korean sudden cardiac arrest survivors. This study aimed to investigate the causative genetic variants of cardiac-associated genes in Korean sudden cardiac arrest survivors. We performed exome sequencing followed by filtering and validation of variants in 100 genes related to channelopathy and cardiomyopathy in 19 Korean patients who survived sudden cardiac arrest...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28202707/cadasil-accelerated-by-acute-hypotension-arterial-and-venous-contribution-to-leukoaraiosis
#11
Jacqueline A Pettersen, Julia Keith, Fuqiang Gao, J David Spence, Sandra E Black
OBJECTIVE: To underline the importance of blood pressure regulation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to describe changes that occur in the veins in this condition, specifically venous collagenosis associated with leukoaraiosis. METHODS: Case report with neuroimaging and pathologic data. RESULTS: A 61-year-old man with genetically confirmed CADASIL was initially lucid following a motor vehicle accident but subsequently became hypotensive (60/40 mm Hg) due to an open femur fracture and required intubation...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202385/long-term-consequences-of-disrupting-adenosine-signaling-during-embryonic-development
#12
REVIEW
Scott A Rivkees, Christopher C Wendler
There is growing evidence that disruption in the prenatal environment can have long-lasting effects on an individual's health in adulthood. Research on the fetal programming of adult diseases, including cardiovascular disease, focuses on epi-mutations, which alter the normal pattern of epigenetic factors such as DNA methylation, miRNA expression, or chromatin modification, rather than traditional genetic alteration. Thus, understanding how in utero chemical exposures alter epigenetics and lead to adult disease is of considerable public health concern...
February 12, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/28196816/bone-marrow-derived-microrna-223-works-as-an-endocrine-genetic-signal-in-vascular-endothelial-cells-and-participates-in-vascular-injury-from-kawasaki-disease
#13
Maoping Chu, Rongzhou Wu, Shanshan Qin, Wenfeng Hua, Zhen Shan, Xing Rong, Jingjing Zeng, Lanlan Hong, Yeying Sun, Ying Liu, Wen Li, Shenming Wang, Chunxiang Zhang
BACKGROUND: Kawasaki disease (KD) is now the most common cause of acquired cardiac disease in children due to permanent coronary artery damage with unknown etiology. The study sought to determine the role of blood microRNA miR-223 in KD and KD-induced injuries in vascular endothelial cells (ECs) as well as the mechanisms involved. METHODS AND RESULTS: MicroRNA profiles in serum from patients with KD and from healthy controls were assessed by microarray analysis...
February 14, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28194788/protein-kinase-a-regulates-c-terminally-truncated-cav-1-2-in-xenopus-oocytes-roles-of-n-and-c-termini-of-the-%C3%AE-1c-subunit
#14
Shimrit Oz, Ines Pankonien, Anouar Belkacemi, Veit Flockerzi, Enno Klussmann, Hannelore Haase, Nathan Dascal
β-Adrenergic stimulation enhances Ca(2+) currents via L-type, voltage-gated CaV 1.2 channels, strengthening cardiac contraction. The signaling via β-adrenergic receptors (β-ARs) involves elevation of cyclic AMP (cAMP) levels and activation of protein kinase A (PKA). However, how PKA affects the channel remains controversial. Recent studies in heterologous systems and genetically engineered mice stress the importance of the posttranslational proteolytic truncation of distal C-terminus (dCT) of the main (α1C ) subunit...
February 14, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28194437/mitochondrial-quality-control-dysregulation-in-conditional-ho-1-mice
#15
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/28194409/a-variant-in-cox-2-gene-is-associated-with-left-main-coronary-artery-disease-and-clinical-outcomes-of-coronary-artery-bypass-grafting
#16
Hanning Liu, Zhengxi Xu, Cheng Sun, Dachuan Gu, Xiao Teng, Yan Zhao, Zhe Zheng
As a particular severe phenotype of coronary artery disease (CAD), left main coronary artery disease (LMCAD) is heritable. Genetic variants related to prostaglandin metabolism are associated with LMCAD. Cyclooxygenase-2 (COX-2), a key synthase in prostaglandin pathways, displays high density in atherosclerotic lesions and promotes early atherosclerosis in CAD progression. We hypothesized that genetic variants in COX-2 gene contribute to LMCAD phenotype susceptibility compared to more peripheral coronary artery disease (MPCAD)...
2017: BioMed Research International
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
#17
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/28192847/-gastroparesis-in-noonan-syndrome
#18
Konstantin G Heimrich, Falk Gühne, Solveig Schulz, Stephanie Mutschke, Andreas Stallmach, Jessica Rüddel
We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur...
February 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28191018/thymosin-%C3%AE-4-improves-differentiation-and-vascularization-of-ehts
#19
Tilman Ziegler, Rabea Hinkel, Andrea Stöhr, Thomas Eschenhagen, Karl-Ludwig Laugwitz, Ferdinand le Noble, Robert David, Arne Hansen, Christian Kupatt
Induced pluripotent stem cells (iPSC) constitute a powerful tool to study cardiac physiology and represents a promising treatment strategy to tackle cardiac disease. However, iPSCs remain relatively immature after differentiation. Additionally, engineered heart tissue (EHT) has been investigated as a therapy option in preclinical disease models with promising results, although their vascularization and functionality leave room for improvement. Thymosin β4 (Tβ4) has been shown to promote the differentiation of progenitor cell lines to cardiomyocytes while it also induces angiogenic sprouting and vascular maturation...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28186593/-prenatal-diagnosis-of-a-case-with-46-xx-del-4-dup-21
#20
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Xiaohong Zhang
OBJECTIVE: To investigate the genetic cause and prognosis of a fetus with a rare karyotype. METHODS: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. RESULTS: The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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