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Cardiac defects

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https://www.readbyqxmd.com/read/28445175/traumatic-ventral-septal-defect-after-stab-wound-to-the-chest-missed-by-transthoracic-echocardiogram-a-case-report
#1
Abimbola O Faloye, Raphael Y Gershon
Traumatic ventral septal defect may be sustained after either blunt force or penetrating trauma to the chest. Severity ranges from asymptomatic to acute decompensated heart failure. Our patient suffered a stab wound to the chest and was initially taken to the operating room for repair of a lacerated right ventricle. Subsequent postoperative hemodynamic deterioration prompted a bedside transthoracic echocardiogram, which failed to identify causal factors. A transesophageal echocardiogram performed immediately after ventral septal defect was demonstrated...
April 25, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#2
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28439760/prognostic-study-of-cardiac-events-in-japanese-patients-with-chronic-kidney-disease-using-ecg-gated-myocardial-perfusion-imaging-final-3-year-report-of-the-j-access-3-study
#3
Satoko Nakamura, Yuhei Kawano, Kenichi Nakajima, Hiroki Hase, Nobuhiko Joki, Tsuguru Hatta, Shigeyuki Nishimura, Masao Moroi, Susumu Nakagawa, Tokuo Kasai, Hideo Kusuoka, Yasuchika Takeishi, Mitsuru Momose, Kazuya Takehana, Mamoru Nanasato, Syunichi Yoda, Hidetaka Nishina, Naoya Matsumoto, Tsunehiko Nishimura
BACKGROUND: Myocardial perfusion imaging (MPI) is considered useful for risk stratification among patients with chronic kidney disease (CKD), without renal deterioration by contrast media. METHODS AND RESULTS: The Japanese Assessment of Cardiac Events and Survival Study by Quantitative Gated SPECT (J-ACCESS 3) is a multicenter, prospective cohort study investigating the ability of MPI to predict cardiac events in 529 CKD patients without a definitive coronary artery disease...
April 24, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28439736/early-cardiac-perfusion-defects-after-left-sided-radiation-therapy-for-breast-cancer-is-there-a-volume-response
#4
REVIEW
Orit Kaidar-Person, Timothy M Zagar, Jorge Daniel Oldan, Jason Matney, Ellen L Jones, Shiva Das, Brian C Jensen, Richard C Zellars, Terence Z Wong, Lawrence B Marks
PURPOSE: Cardiac single-photon emission computed tomography (SPECT) is often used to identify defects in myocardial perfusion due to atherosclerotic coronary artery disease. It was also used in studies to evaluate radiation therapy (RT)-associated cardiac abnormalities. In the current review, we aim to evaluate the rates of post-RT cardiac SPECT early perfusion abnormalities and relate this to the irradiated left ventricular volume. METHODS: The studies cited in this systematic review were identified using the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines...
April 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28438064/utility-of-fetal-cardiac-magnetic-resonance-imaging-to-assess-fetuses-with-right-aortic-arch-and-right-ductus-arteriosus
#5
Su-Zhen Dong, Zhu Ming
OBJECTIVE: To evaluate the utility of fetal cardiac magnetic resonance imaging (MRI) to diagnose right aortic arch with right ductus arteriosus. METHODS: This retrospective study included six fetuses with right aortic arch and right ductus arteriosus. The six fetal cases were examined using a 1.5-T magnetic resonance unit. The steady-state free precession (SSFP) and single-shot turbo spin echo (SSTSE) sequences were used to evaluate the fetal heart and airway. The gestational age of the six fetuses ranged from 22 to 35 weeks (mean, 26...
April 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28436679/cited2-mutations-in-conserved-regions-contribute-to-conotruncal-heart-defects-in-chinese-children
#6
Bojian Li, Tian Pu, Yang Liu, Yuejuan Xu, Rang Xu
Conotruncal heart defects (CTDs) are severe malformations of outflow tract with heterogeneous morphology. Several missense variants of CITED2 have been identified to cause CTDs in recent researches. In this study, we screened the coding regions of CITED2 in 605 Chinese children with CTDs and found two possible pathogenic mutant sites: p.Q117L and p.T257A, both located in the conserved regions of CITED2. Then, we investigated the biological and functional alterations of them. Western blotting showed low level of protein expression of mutant Q117 and T257A compared with wild-type CITED2...
April 24, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#7
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436133/population-trends-in-prenatal-detection-of-transposition-of-great-arteries-impact-of-obstetrical-screening-ultrasound-guidelines
#8
Ravi Prasad, Mills Lindsay, Fruitman Deborah, Savard Winnie, Colen Timothy, Khoo Nee, Serrano-Lomelin Jesus, Hornberger Lisa K
BACKGROUND: D-transposition of the great arteries (D-TGA) is one of the most common critical neonatal heart defects. Although there are clinical advantages to a prenatal diagnosis, D-TGA has had low prenatal detection internationally. Recent obstetrical ultrasound guidelines incorporating screening of cardiac outflows may improve prenatal detection of D-TGA. We sought to evaluate trends in the prenatal detection of D-TGA with/without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of enhanced ultrasound guidelines in 2009-2010 and 2013 and factors impacting detection...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28435681/a-hol-e-y-predicament
#9
Shaiva Ginoya Meka, Daniel Shelden, Amy Mertens, Paul Christensen, Meet Patel
Endocardial cushion defects are congenital abnormalities that result in valvular dysfunction as well as defects (or "holes") in the septa of the heart. They are typically diagnosed in early infancy; presentation late in life is rare. We present the case of a 72-year-old female admitted to the hospital with dyspnoea and palpitations. She was found to have multifocal atrial tachycardia. She suffered cardiac arrest associated with refractory hypoxaemia that required mechanical ventilation and vasodilator therapy with inhaled nitric oxide...
July 2017: Respirology Case Reports
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#10
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28434921/identification-of-a-novel-and-functional-mutation-in-the-tbx5-gene-in-a-patient-by-screening-from-354-patients-with-isolated-ventricular-septal-defect
#11
Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He
Ventricular septal defect (VSD) is the most frequently occurring congenital heart disease (CHD) in newborns. A number of genetic studies have linked TBX5 mutations to cardiac abnormalities. We aimed to identify potential pathogenic mutations in TBX5 and to provide insights into the etiology of sporadic and isolated VSD. Case-control mutational and functional analyses were performed in 354 sporadic patients with isolated VSD and 341 controls. All the coding exons and intron-exon boundaries of TBX5 were first sequenced in a group of VSD patients and controls...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28432673/prognostic-value-of-left-ventricular-dyssynchrony-evaluated-by-gated-myocardial-perfusion-imaging-in-patients-with-chronic-kidney-disease-and-normal-perfusion-defect-scores
#12
Hiroaki Mori, Satoshi Isobe, Susumu Suzuki, Kazumasa Unno, Ryota Morimoto, Naoaki Kano, Takahiro Okumura, Yoshinari Yasuda, Katsuhiko Kato, Toyoaki Murohara
BACKGROUND: This study aimed to investigate whether indices of left ventricular (LV) dyssynchrony by gated myocardial perfusion SPECT (GMPS) could be useful to predict prognosis in chronic kidney disease (CKD) patients with normal perfusion defect scores. METHODS: One hundred and sixty-seven CKD patients with normal perfusion defect scores on adenosine-stress (201)Tl GMPS and no previous history of overt heart diseases were enrolled. Phase standard deviation (PSD) and bandwidth (BW) were automatically calculated from GMPS...
April 21, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28431062/impact-of-basal-inferolateral-scar-burden-determined-by-automatic-analysis-of-99mtc-mibi-myocardial-perfusion-spect-on-the-long-term-prognosis-of-cardiac-resynchronization-therapy
#13
Itsuro Morishima, Kenji Okumura, Hideyuki Tsuboi, Yasuhiro Morita, Kensuke Takagi, Ruka Yoshida, Hiroaki Nagai, Toshiro Tomomatsu, Yoshihiro Ikai, Kazushi Terada, Takahito Sone, Toyoaki Murohara
Aims: Left-ventricular (LV) scarring may be associated with a poor response to cardiac resynchronization therapy (CRT). The automatic analysis of myocardial perfusion single-photon emission computed tomography (MP-SPECT) may provide objective quantification of LV scarring. We investigated the impact of LV scarring determined by an automatic analysis of MP-SPECT on short-term LV volume response as well as long-term outcome. Methods and Results: We studied consecutive 51 patients who were eligible to undergo 99mTc-MIBI MP-SPECT both at baseline and 6 months after CRT (ischaemic cardiomyopathies 31%)...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430739/downstream-indication-to-revascularization-following-hybrid-cardiac-pet-mri-preliminary-results
#14
Julien Priamo, Dionysos Adamopoulos, Oliver Rager, Angela Frei, Stephane Noble, David Carballo, Osman Ratib, René Nkoulou
BACKGROUND: Hybrid PET/MRI allows the acquisition of both fluorine-18-fluorodeoxyglucose (F-FDG) PET and cardiac magnetic resonance (CMR) during one session. Whether this will result in different referral to coronary revascularization (CR) is unknown. We compared this new hybrid method with all-nuclear/all-CMR methods in the assessment of viable myocardium and in downstream referral to CR. PATIENTS AND METHODS: Overall, 12 patients with rest perfusion defects on a single photon emission computed tomography (SPECT) were recruited for cardiac viability assessment using a PET/MRI device...
April 20, 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28427867/outcomes-from-anomalous-origin-of-the-left-coronary-artery-from-the-pulmonary-artery-repair-long-term-complications-in-relation-to-residual-myocardial-abnormalities
#15
Miki Kanoh, Kei Inai, Tokuko Shinohara, Hirofumi Tomimatsu, Toshio Nakanishi
BACKGROUND: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary artery irregularity. This study aimed to clarify the long-term postoperative outcomes in ALCAPA patients, and to compare the infantile and adult types. METHODS: We retrospectively analyzed the clinical data from 33 patients with ALCAPA who underwent surgical repairs after 1980. The patients were grouped based on whether presentation occurred before (infantile type: n=14) or after (adult type: n=19) 1 year of age...
April 17, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28427801/-multimodality-imaging-in-the-cardiac-catheterization-laboratory
#16
Karine Warin-Fresse, Sébastien Hascoet, Patrice Guérin
Cardiac catheterization has greatly contributed to the progress made in the management of congenital heart diseases (CHD). Initially used in diagnosis, it allowed the understanding of heart diseases, their anatomy and hemodynamics. Gradually, the development of interventional cardiology has played a major role in the management of these malformations (Patent ductus arteriosus [PDA] and atrial septal defect [ASD] closure, pulmonary dilatation, percutaneous pulmonary valve implantation…). The development of such technology was made possible through the concomitant development of imaging techniques: fluoroscopy, ultrasound, MRI and CT...
April 17, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28424445/management-of-tachyarrhythmia-during-pregnancy
#17
Emily Ann Enderlin, Khaldia Taufiq Khaled, Luke Oke, Mohammed Madmani, Hakan Paydak
Maternal tachyarrhythmia is a common complication during pregnancy due to hormonal changes that enhance pre-existing arrhythmias or induce new arrhythmias in the presence of congenital heart defects in pregnant females. Presence of tachyarrhythmia during pregnancy poses risk to the mother and fetus, calling for proper treatment with medications. Use of antiarrhythmic drugs in cases of maternal tachyarrhythmia must give due consideration of potential teratogenic side effects. Utilization of antiarrhythmic drugs during pregnancy has been well studied; some result in minimal fetal harm or none at all...
March 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#18
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421204/diabetic-cardiomyopathy-current-approach-and-potential-diagnostic-and-therapeutic-targets
#19
REVIEW
Georgiana-Emmanuela Gilca, Gabriela Stefanescu, Oana Badulescu, Daniela-Maria Tanase, Iris Bararu, Manuela Ciocoiu
Although ischemic heart disease is the major cause of death in diabetic patients, diabetic cardiomyopathy (DCM) is increasingly recognized as a clinically relevant entity. Considering that it comprises a variety of mechanisms and effects on cardiac function, increasing the risk of heart failure and worsening the prognosis of this patient category, DCM represents an important complication of diabetes mellitus, with a silent development in its earlier stages, involving intricate pathophysiological mechanisms, including oxidative stress, defective calcium handling, altered mitochondrial function, remodeling of the extracellular matrix, and consequent deficient cardiomyocyte contractility...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28419746/factors-for-postoperative-complications-following-pressure-ulcer-operation-stepwise-multiple-logistic-regression-analysis
#20
Hyun Ho Han, Jun Gul Ko, Jong Won Rhie
Patients with pressure ulcers are generally older, have a long hospital stay and often have a variety of comorbidities. The decision to perform surgery for pressure ulcer management can be difficult because of concerns about the risk of postoperative complications. The aim of this study was to analyse the relationship between comorbid conditions and surgical outcomes in order to guide patient selection for pressure ulcer surgery. In 57 patients, data on age, defect size, operating time, hospital stay, body mass index, surgical site, mobility state, cardiac ischaemic history, diabetes, renal failure, ventilator dependency, tracheostomy state, use of haemodilution therapy and cancer were evaluated using stepwise multiple logistic regression analysis to determine the relationships between variables...
April 17, 2017: International Wound Journal
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