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congenital cardiac defects

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https://www.readbyqxmd.com/read/28438064/utility-of-fetal-cardiac-magnetic-resonance-imaging-to-assess-fetuses-with-right-aortic-arch-and-right-ductus-arteriosus
#1
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/28435681/a-hol-e-y-predicament
#2
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/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
#3
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/28427867/outcomes-from-anomalous-origin-of-the-left-coronary-artery-from-the-pulmonary-artery-repair-long-term-complications-in-relation-to-residual-myocardial-abnormalities
#4
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
#5
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
#6
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
#7
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/28419229/non-invasive-assessment-of-cerebral-oxygen-metabolism-following-surgery-of-congenital-heart-disease
#8
Felix Neunhoeffer, Katharina Sandner, Milena Wiest, Christoph Haller, Hanna Renk, Matthias Kumpf, Christian Schlensak, Michael Hofbeck
OBJECTIVES: Cerebral protection is a major issue in the treatment of infants with complex congenital heart disease. We tested a new device combining tissue spectrometry and laser Doppler flowmetry for non-invasive determination of cerebral oxygen metabolism following cardiac surgery in infants. METHODS: We prospectively measured regional cerebral oxygen saturation cSO 2 and microperfusion (rcFlow) in 43 infants 12-24 h following corrective ( n  = 30) or palliative surgery ( n  = 13) of congenital heart defects...
April 16, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28414679/misses-opportunity-tof-diagnoses-in-4th-decade-of-life
#9
O Baniahmad, T Jarreau, A Johnson
CASE: A 40 year old woman with a history of HIV, congestive heart failure secondary to an unknown congenital heart defect, and hypertension presented to our emergency department with worsening edema. On room air, oxygen saturation was 55 percent . On 5L of oxygen via nasal cannula, oxygen saturation was 88 percent . Physical examination was notable for central cyanosis, facial and lid edema, a II/VI holosystolic murmur across right chest radiating to entire right back hemithorax, decreased breath sounds at bases with pulmonary crackles, clubbing of fingers and edema of bilateral lower extremities...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28414001/transcatheter-closure-of-a-residual-aorto-left-ventricular-tunnel-report-of-a-case-with-a-6-year-follow-up
#10
Milan Djukic, Stefan A Djordjevic, Ingo Dähnert
Aorto-left ventricular tunnel is an exceedingly rare congenital cardiac defect. Early surgical closure is the treatment of choice. Residual or recurrent tunnel and aortic valve insufficiency are well-recognised complications after surgical repair. In this article, we report on successful transcatheter closure of a residual aorto-left ventricular tunnel using an Amplatzer duct occluder in a 7-year-old boy. The outcome after 6 years of follow-up is encouraging.
April 17, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28411047/immunodepression-after-cpb-cytokine-dynamics-and-clinics-after-pediatric-cardiac-surgery-a-prospective-trial
#11
Georgia Justus, Christoph Walker, Lisa-Maria Rosenthal, Felix Berger, Oliver Miera, Katharina Rose Luise Schmitt
BACKGROUND: Corrective surgery for congenital heart defects is known to trigger a severe immune reaction. There has been extensive research on the effects of inflammation after cardiopulmonary bypass (CPB). Interestingly, monocytes are observed to be non-responsive to stimulation with lipopolysaccharide (LPS) under these conditions, indicating a state of immunodepression, which lays the ground for second hit infections after cardiosurgery with CPB. OBJECTIVES: The aim of this prospective study was to analyze immunodepression after pediatric cardiopulmonary bypass and to differentiate the effects of monocytic anergy on postoperative outcome...
April 11, 2017: Cytokine
https://www.readbyqxmd.com/read/28404481/clinical-utility-and-diagnostic-accuracy-of-palm-held-mini-sized-ultrasonocardiographic-scanner-in-congenital-heart-disease
#12
Mao-Hung Lo, Chien-Fu Huang, I-Chun Lin, Ying-Jui Lin, Hsuan-Chang Kuo, Kai-Sheng Hsieh
BACKGROUND/PURPOSE: To investigate whether a palm-held ultrasonocardiographic scanner would be useful for screening and follow-up in congenital heart disease (CHD). METHODS: We retrospectively reviewed the echocardiographic images from June 1, 2014 to November 1, 2014. All patients underwent two ultrasonographic examinations including palm-held scanner examination and standard echocardiography. To compare the quality of the two instruments, we developed a diagnostic scoring system ranging from 1 point to 10 points, with 10 points indicating the best quality...
April 9, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28402450/sudden-cardiac-death-in-adults-with-congenital-heart-disease-does-qrs-complex-fragmentation-discriminate-in-structurally-abnormal-hearts
#13
Jim T Vehmeijer, Zeliha Koyak, Jouke P Bokma, Werner Budts, Louise Harris, Barbara J M Mulder, Joris R de Groot
Aims: Sudden cardiac death (SCD) causes a large portion of all mortality in adult congenital heart disease (ACHD) patients. However, identification of high-risk patients remains challenging. Fragmented QRS-complexes (fQRS) are a marker for SCD in patients with acquired heart disease but data in ACHD patients are lacking. We therefore aim to evaluate the prognostic value of fQRS for SCD in ACHD patients. Methods and results: From a multicentre cohort of 25 790 ACHD patients, we included tachyarrhythmic SCD cases (n = 147), and controls (n = 266) matched by age, gender, congenital defect and (surgical) intervention...
April 10, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28400925/children-with-transposition-of-the-great-arteries-should-they-actually-be-born-in-nigeria
#14
Barakat Adeola Animasahun, Akpoembele Deborah Madise-Wobo, Henry Olusegun Gbelee, Samuel Ilenre Omokhodion
AIM: To describe the clinical and echocardiographic features of Nigerian children with transposition of the great arteries and emphasize the need for collaboration with cardiac centres in the developed countries to be able to salvage the children. METHODS: Prospective and cross sectional involving consecutive patients diagnosed with transposition of the great arteries using clinical evaluation and echocardiography at the Paediatric Department of Lagos State University Teaching Hospital, Lagos Nigeria as part of a large study between January 2007 and December 2015...
March 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28398685/parvovirus-b19-infection-during-pregnancy-and-risks-to-the-fetus
#15
REVIEW
Asher Ornoy, Zivanit Ergaz
Parvovirus B19 infects 1 to 5% of pregnant women, generally with normal pregnancy outcomes. During epidemics, the rate of infection is higher. Major congenital anomalies among offspring of infected mothers are rare, as the virus does not appear to be a significant teratogen. However, parvovirus B19 infection may cause significant fetal damage, and in rare cases, brain anomalies and neurodevelopmental insults, especially if infection occurs in the first 20 weeks of pregnancy. Parvovirus B19 is also an important cause of fetal loss, especially in the second half of pregnancy when spontaneous fetal loss from other causes is relatively rare...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398665/both-a-frameshift-and-a-missense-mutation-of-the-stra6-gene-observed-in-an-infant-with-the-matthew-wood-syndrome
#16
Samantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, Ewa Czichos, Jan Wilczynski, Dorota Nowakowska
BACKGROUND: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. CASE: A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398664/rare-copy-number-variants-in-patients-with-congenital-conotruncal-heart-defects
#17
Hongbo M Xie, Petra Werner, Dwight Stambolian, Joan E Bailey-Wilson, Hakon Hakonarson, Peter S White, Deanne M Taylor, Elizabeth Goldmuntz
BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. METHODS: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398542/technical-performance-scores-are-predictors-of-midterm-mortality-and-reinterventions-following-congenital-mitral-valve-repair%C3%A2
#18
Elisabeth Martin, Pedro J Del Nido, Meena Nathan
OBJECTIVES: The Technical Performance Score (TPS) has been shown to be predictive of postoperative mortality, morbidities and reinterventions following various cardiac procedures in children. We hypothesized that TPS is also a predictor of mitral valve repair outcomes. METHODS: A review of patients who underwent mitral valve repair from January 2000 to December 2013 was performed. Primary repair of complete atrioventricular defect was excluded. The scores were determined according to previously published criteria based on the need for reintervention and predischarge echocardiograms: Class 1 (no residua), Class 2 (minor residua) or Class 3 (pacemaker implantation, major residua or reintervention for major residua prior to discharge)...
April 6, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28393793/transient-cortical-blindness-following-intracardiac-repair-of-congenital-heart-disease-in-an-11-year-old-boy
#19
Saswata Bharati, Manish Kumar Sharma, Amitabha Chattopadhay, Debasis Das
Postoperative blindness (PB) primarily involves reception and conductance parts of the visual pathway due to ischemia following cessation of blood supply, for example, retinal vascular occlusion. Although a rare cause of PB, cortical blindness (CB), which results from ischemia/infarction of visual cortex, has a poor outcome due to its mostly nonreversible nature. Ischemic optic neuropathy is the most common cause of PB following cardiac surgeries. CB following cardiac surgeries involving cardiopulmonary bypass has been rarely reported...
April 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28390597/association-of-airway-abnormalities-with-22q11-2-deletion-syndrome
#20
Rosalba Sacca, Karen B Zur, T Blaine Crowley, Elaine H Zackai, Kathleen D Valverde, Donna M McDonald-McGinn
INTRODUCTION: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association. METHODS: We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment...
May 2017: International Journal of Pediatric Otorhinolaryngology
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