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https://www.readbyqxmd.com/read/29915644/right-ventricular-dysplasia-management-and-treatment-in-light-of-current-evidence
#1
REVIEW
Amr Idris, Syed Raza Shah, Ki Park
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiovascular disease that predisposes to ventricular arrhythmias potentially leading to sudden cardiac death (SCD). ARVC varies considerably with multiple clinical presentations, ranging from no symptoms to cardiac arrhythmias to SCD. ARVC prevalence is not well known, but the estimated prevalence in the general population is 1:5000. Diagnosis of ARVC can be made by using the Revised European Society of Cardiology criteria for ARVC that includes ventricular structural and functional changes, ECG abnormalities, arrhythmias, family and genetic factors...
2018: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29912308/metabolic-changes-in-hypertrophic-cardiomyopathies-scientific-update-from-the-working-group-of-myocardial-function-of-the-european-society-of-cardiology
#2
Jolanda van der Velden, Carlo Gabriele Tocchetti, Gilda Varricchi, Anna Bianco, Vasco Sequeira, Denise Hilfiker-Kleiner, Nazha Hamdani, Adelino Leite-Moreira, Manuel Mayr, Ines Falcão-Pires, Thomas Thum, Dana K Dawson, Jean-Luc Balligand, Stephane Heymans
Disturbed metabolism as a consequence of obesity and diabetes may cause cardiac diseases (recently highlighted in the CVR spotlight issue on Metabolic cardiomyopathies).1 In turn, the metabolism of the heart may also be disturbed in genetic and acquired forms of hypertrophic cardiac disease. Here, we provide an overview of recent insights on metabolic changes in genetic hypertrophic cardiomyopathy (HCM) and discuss several therapies which may be explored to target disturbed metabolism and prevent onset of cardiac hypertrophy...
June 15, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29878156/management-of-patients-with-ventricular-arrhythmias-and-prevention-of-sudden-cardiac-death-translating-guidelines-into-practice-results-of-the-european-heart-rhythm-association-survey
#3
Kristina H Haugaa, Gheorghe-Andrei Dan, Konstantinos Iliodromitis, Radoslaw Lenarczyk, Germanas Marinskis, Joaquin Osca, Daniel Scherr, Nikolaos Dagres
Prevention of sudden cardiac death (SCD) remains a partly unsolved task in cardiology. The European Society of Cardiology (ESC) guidelines on management of patients with ventricular arrhythmias and prevention of SCD published in 2015 considered the new insights of the natural history of diseases predisposing to SCD. The guidelines improved strategies for management of patients at risk of SCD and included both drug and device therapies. The intention of this survey was to evaluate the extent of the disparities between daily clinical practice and the 2015 SCD ESC guidelines among electrophysiology centres in Europe...
June 5, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29870068/j-wave-syndromes-as-a-cause-of-malignant-cardiac-arrhythmias
#4
REVIEW
José M Di Diego, Charles Antzelevitch
The J wave syndromes, including the Brugada (BrS) and early repolarization (ERS) syndromes, are characterized by the manifestation of prominent J waves in the electrocardiogram appearing as an ST segment elevation and the development of life-threatening cardiac arrhythmias. BrS and ERS differ with respect to the magnitude and lead location of abnormal J waves and are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes (JWS). Despite over 25 years of intensive research, risk stratification and the approach to therapy of these two inherited cardiac arrhythmia syndromes are still rapidly evolving...
June 5, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29845954/early-neurodevelopmental-outcomes-after-corrective-cardiac-surgery-in-infants
#5
Ritchie Sharon Solomon, Tanuja Sasi, Abish Sudhakar, Raman Krishna Kumar, Balu Vaidyanathan
OBJECTIVE: To assess neurodevelopmental status in Indian infants undergoing corrective surgery for congenital heart disease (CHD) and to analyze factors associated with neurodevelopmental delay. DESIGN: Cross-sectional study. SETTING: Tertiary-care pediatric cardiology facility. PARTICIPANTS: Consecutive infants undergoing corrective surgery for CHD (January 2013 -December 2014). Palliative procedures, and patients with known genetic syndromes were excluded...
May 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29801713/awareness-of-fabry-disease-in-cardiology-a-gap-to-be-filled
#6
Dulce Brito, Nuno Cardim, Luís Rocha Lopes, Adriana Belo, Jorge Mimoso, Lino Gonçalves, Hugo Madeira
INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included...
May 22, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29794080/atherosclerotic-cardiovascular-disease-in-south-asians-in-the-united-states-epidemiology-risk-factors-and-treatments-a-scientific-statement-from-the-american-heart-association
#7
REVIEW
Annabelle Santos Volgman, Latha S Palaniappan, Neelum T Aggarwal, Milan Gupta, Abha Khandelwal, Aruna V Krishnan, Judith H Lichtman, Laxmi S Mehta, Hena N Patel, Kevin S Shah, Svati H Shah, Karol E Watson
South Asians (from Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka) make up one quarter of the world's population and are one of the fastest-growing ethnic groups in the United States. Although native South Asians share genetic and cultural risk factors with South Asians abroad, South Asians in the United States can differ in socioeconomic status, education, healthcare behaviors, attitudes, and health insurance, which can affect their risk and the treatment and outcomes of atherosclerotic cardiovascular disease (ASCVD)...
May 24, 2018: Circulation
https://www.readbyqxmd.com/read/29782260/-polymorphisms-of-the-scn10a-gene-in-patients-with-sick-sinus-syndrome
#8
S Y Niculina, O V Marilovceva, A A Chernova, S S Tret'jakova, D A Nikulin, V N Maksimov
PURPOSE: To study association of rs6795970 polymorphism of SCN10A gene with development of idiopathic sick sinus syndrome (ISSS). MATERIALS AND METHODS: We examined 109 patients with ISSS, 59 their healthy 1‑st-, 2‑nd-, and 3‑rd-degree relatives, and 630 controls. Patients with ISSS were divided into subgroups according to gender and clinical variant of the disease. All patients underwent cardiologic examination and molecular genetic testing of DNA. RESULTS: We revealed significant preponderance of homozygous genotype with rare allele of the studied gene among patients with ISSS compared with control group...
April 2018: Kardiologiia
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#9
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/29744013/pregnancy-in-women-with-cardiovascular-diseases
#10
REVIEW
Karolina Adam
Patients with cardiovascular disease represent a significant cohort at risk for complications during pregnancy. The normal physiologic changes of pregnancy could further compromise the hemodynamics of various cardiovascular conditions, resulting in clinical deterioration and even death. The fetus of a gravida with cardiovascular disease also has an increased risk of morbidity, including an increased risk of inherited cardiac genetic disorders, fetal growth restriction, and premature delivery. These complications also increase the risk for antenatal and perinatal mortality...
October 2017: Methodist DeBakey Cardiovascular Journal
https://www.readbyqxmd.com/read/29726431/telemedicine-in-diagnosis-treatment-and-management-of-diseases-in-children
#11
Abbas Sheikhtaheri, Farzaneh Kermani
The purpose of this study was to review different telemedicine services in diagnosis, treatment and management of various children diseases and providing an overview of systematic reviews conducted in this regard. We searched English articles published in peer-reviewed journals between 2000 to 2016. We found that tele-pediatric services have been reported in various areas such as cardiology, burn, diabetes, obesity, emergency medicine, speech and hearing loss, Ear, Nose and Throat, psychology and psychiatry, radiology, oncology, home healthcare, asthma, genetics and dentistry...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29717636/importance-of-cardiovascular-examination-in-patients-with-multiple-lentigines-two-cases-of-leopard-syndrome-with-hypertrophic-cardiomyopathy
#12
Tomas Jurko, Alexander Jurko, Jana Krsiakova, Alexander Jurko, Milan Minarik, Michal Mestanik
Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Clinical manifestations are often mild, which may result in difficult and late diagnosis. Cardiac involvement may have a significant impact on the prognosis, however, appearance of severe abnormalities such as hypertrophic cardiomyopathy usually precedes the occurrence of multiple lentigines and may be asymptomatic...
May 2, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29707173/analysis-of-the-mutations-in-exon-10-of-mefv-gene-in-patients-with-premature-coronary-heart-disease-in-west-azerbaijan-province-of-iran
#13
Morteza Bagheri, Kamal Khadem-Vatani, Mir Hossein Seyed Mohammad Zad, Isa Abdi Rad, Behzad Rahimi, Alireza Rostamzadeh, Mojtaba Godarzi, Shabnam Ashena
Introduction: Premature coronary heart disease (PCHD) affects public health and leads to death. PCHD has several genetic and environmental risk factors. The aim of this study was to analysis of the mutations in exon 10 of MEFV gene in patients with PCHD in West Azerbaijan province of Iran. Methods: Totally 41 PCHD patients who were admitted to the cardiology unit of Sayedoshohada hospital (Urmia, Iran) enrolled in the study. Selection of the patients was done based on the strict criteria, that is, who had a minimum of one angiographically documented coronary artery with the stenosis of 50%...
2018: Journal of Cardiovascular and Thoracic Research
https://www.readbyqxmd.com/read/29705807/rapamycin-protects-skin-fibroblasts-from-ultraviolet-b-induced-photoaging-by-suppressing-the-production-of-reactive-oxygen-species
#14
Dengke Qin, Runjian Ren, Chuanlong Jia, Yongzhou Lu, Qingjian Yang, Liang Chen, Xinyuan Wu, Jingjing Zhu, Yu Guo, Ping Yang, Yiqun Zhou, Ningwen Zhu, Bo Bi, Tianyi Liu
BACKGROUND/AIMS: Ultraviolet B (UVB) irradiation alters multiple molecular pathways in the skin, thereby inducing skin photoaging. Murine dermal fibroblasts (MDFs) were subjected to a series of 4 sub-cytotoxic UVB doses (120 mJ/cm2), resulting in changes in cell shape, DNA damage, cell cycle arrest, extracellular matrix variations, reactive oxygen species (ROS) generation, and alterations in major intracellular antioxidant and cellular autophagy levels. Rapamycin (RAPA) is a new macrolide immunosuppressive agent that is primarily used in oncology, cardiology, and transplantation medicine and has been found to extend the lifespan of genetically heterogeneous mice...
2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29665072/an-update-on-canine-cardiomyopathies-is-it-all-in-the-genes
#15
REVIEW
E Dutton, J López-Alvarez
Dilated cardiomyopathy is the second most common cardiac disease in dogs and causes considerable morbidity and mortality. Primary dilated cardiomyopathy is suspected to be familial, and genetic loci have been associated with the disease in a number of breeds. Because it is an adult-onset disease, usually with late onset, testing breeding dogs and bitches before breeding for a genetic mutation that could lead to dilated cardiomyopathy would be helpful to prevent disease. There is growing evidence that the genetic basis may be multigenic rather than monogenic in the majority of studied breeds...
April 17, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29565423/short-term-costs-of-integrating-whole-genome-sequencing-into-primary-care-and-cardiology-settings-a-pilot-randomized-trial
#16
Kurt D Christensen, Jason L Vassy, Kathryn A Phillips, Carrie L Blout, Danielle R Azzariti, Christine Y Lu, Jill O Robinson, Kaitlyn Lee, Michael P Douglas, Jennifer M Yeh, Kalotina Machini, Natasha K Stout, Heidi L Rehm, Amy L McGuire, Robert C Green, Dmitry Dukhovny
PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29562793/wolff-parkinson-white-syndrome-and-noncompaction-in-leber-s-hereditary-optic-neuropathy-due-to-the-variant-m-3460g-a
#17
Josef Finsterer, Claudia Stollberger, Edmund Gatterer
This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt...
May 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29543226/effectiveness-of-plasma-lyso-gb3-as-a-biomarker-for-selecting-high-risk-patients-with-fabry-disease-from-multispecialty-clinics-for-genetic-analysis
#18
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29506731/common-presentation-of-rare-cardiac-diseases-arrhythmias
#19
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
https://www.readbyqxmd.com/read/29486707/genomic-analysis-in-patients-with-myxomatous-mitral-valve-prolapse-current-state-of-knowledge
#20
S Gasser, H Reichenspurner, E Girdauskas
BACKGROUND: Myxomatous mitral valve prolapse is a common cardiac abnormality. Morbus Barlow is characterized by excess myxomatous leaflet tissue, bileaflet prolapse or billowing, chordae elongation and annular dilatation with or without calcification. Extensive myxoid degeneration with destruction of the normal three-layered leaflet tissue architecture is observed histologically in such patients. Autosomal dominant inheritance with an age and sex-dependent expression has long been recognised...
February 27, 2018: BMC Cardiovascular Disorders
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