keyword
MENU ▼
Read by QxMD icon Read
search

Congenital heart defects

keyword
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#1
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
March 21, 2017: Gene
https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#2
Meagan G Grant, Victoria L Patterson, Daniel T Grimes, Rebecca D Burdine
Cardiac development is a dynamic process regulated by spatial and temporal cues that are integrated to effect molecular, cellular, and tissue-level events that form the adult heart. Disruption of these highly orchestrated events can be devastating for cardiac form and function. Aberrations in heart development result in congenital heart defects (CHDs), which affect 1 in 100 infants in the United States each year. Zebrafish have proven informative as a model organism to understand both heart development and the mechanisms associated with CHDs due to the similarities in heart morphogenesis among vertebrates, as well as their genetic tractability and amenability to live imaging...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28335795/gemella-morbillorum-endocarditis-of-pulmonary-valve-a-case-report
#3
Dan Li, Zhicheng Zhu, Xiaomei Zheng, Weitie Wang, Rihao Xu, Kexiang Liu
BACKGROUND: Pulmonary valve infective endocarditis is a rare finding for endocarditis. Infective endocarditis caused by Gemella morbillorum remains a scanty occurrence. CASE PRESENTATION: This is a case reported of a 28-year-old Chinese male with endocarditis caused by pulmonary valve infection of Gemella morbillorum associated with congenital ventricular septal defect, atrial septal defect and double-chambered right ventricle. The patient presented with fever, shortness of breath, progressively worsening exertional fatigue, dyspnea and weight loss for 3 months...
March 23, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28333672/case-report-pediatric-scar-management-after-open-heart-surgery
#4
Ha Phan, Beau Harger, Nick Estrada
Tetralogy of Fallot is a congenital disease caused by structural defects within the heart that can lead to cyanosis. The purpose of this case report is to discuss the use of PracaSil-Plus, a proprietary topical anhydrous silicone base containing pracaxi oil, in scar-management therapy, following open-heart surgery on a pediatric patient with tetralogy of Fallot. The Patient and Observer Scar Assessment Scale was the research instrument used to evaluate for efficacy of the scar therapy. Following 8 weeks of treatment with PracaSil-Plus, reduction in scores were observed for scar color, stiffness, thickness, and irregularity, with improvements of 87...
July 2016: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#5
P F Zhu, Y Zhang, J Ban, T T Li, X M Shi
Objective: To summarize the progress in the research of the association between air pollution and adverse birth outcomes in China. Methods: A literature retrieval was conducted by using the databases of CNKI, Wanfang, Pubmed, Science Direct, and Web of Science to select relevant research papers published before 30(th), June 2016 in China according to inclusion criteria. Finally, 27 papers were included in analysis. Results: Exposure to particulate matter (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), total suspended particles (TSP) during pregnancy might increase risk for low birth weight; exposure to PM(10), SO(2), NO(2) during pregnancy might increase risk for premature birth; and exposure to SO(2), NO(2), ozone (O(3)), and PM(10) during pregnancy might increase risk for congenital heart diseases and other birth defects...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28329464/left-ventricular-retraining-and-double-switch-in-patients-with-congenitally-corrected-transposition-of-the-great-arteries
#6
Ali N Ibrahimiye, Richard D Mainwaring, William L Patrick, Laura Downey, Vamsi Yarlagadda, Frank L Hanley
PURPOSE: Congenitally corrected transposition of the great arteries (CC-TGA) is a complex form of congenital heart defect with numerous anatomic subgroups. The majority of patients with CC-TGA are excellent candidates for a double-switch procedure. However, in the absence of an unrestrictive ventricular septal defect or subpulmonary stenosis, the left ventricle (LV) may undergo involution and require retraining prior to double switch. The purpose of this study was to review our experience with patients having CC-TGA who required LV retraining prior to a double-switch procedure...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28328125/two-patients-with-the-heterozygous-r189h-mutation-in-acta2-and-complex-congenital-heart-defects-expands-the-cardiac-phenotype-of-multisystemic-smooth-muscle-dysfunction-syndrome
#7
Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn
De novo heterozygous mutations changing R179 to histidine, leucine, or cysteine in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood, and cerebrovascular anomalies. We describe two patients, a 3-day-old newborn and a 26-year-old woman, with this unique mutation in association with a huge PDA and an aorto-pulmonary window...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#8
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#9
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326155/dental-plaque-microbial-profiles-of-children-from-khartoum-sudan-with-congenital-heart-defects
#10
Hiba Mohamed Ali, Ellen Berggreen, Daniel Nguyen, Raouf Wahab Ali, Thomas E Van Dyke, Hatice Hasturk, Manal Mustafa
Few studies have focused on the bacterial species associated with the deterioration of the dental and gingival health of children with congenital heart defects (CHD). The aims of this study were (1) to examine the dental plaque of children with CHD in order to quantify bacterial load and altered bacterial composition compared with children without CHD; and (2) to investigate the correlation between the level of caries and gingivitis and dental biofilm bacteria among those children. In this cross-sectional study, participants were children (3-12 years) recruited in Khartoum State, Sudan...
2017: Journal of Oral Microbiology
https://www.readbyqxmd.com/read/28325567/microvascular-surgery-in-the-congenital-cardiac-patient-a-case-series-exploring-feasibility-and-practical-applications
#11
John A LoGiudice, Karri Adamson, Nancy Ghanayem, Ronald K Woods, Michael E Mitchell
BACKGROUND: Pediatric congenital heart disease patients are at risk for vascular injuries during surgical procedures or when the arterial system is accessed for monitoring or diagnostic studies. Our treatment of emergent situations in this patient population using microvascular techniques shows the feasibility of such techniques. METHODS: A retrospective chart review of patients aged 0-18 years with congenital heart disease identified six patients who underwent microvascular surgery by the senior surgeon from June 2007 to May 2015...
February 17, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28323386/the-association-of-maternal-lymphatic-markers-and-critical-congenital-heart-defects-in-the-fetus-a-population-based-case-control-study
#12
Martina A Steurer, Mary E Norton, Rebecca J Baer, Gary M Shaw, Sheila Keating, Anita J Moon-Grady, Christina D Chambers, Laura L Jelliffe-Pawlowski
The objective ot this study was to investigate whether lymphatic markers measured in women during the second trimester are associated with critical congenital heart defects (CCHDs) in offspring. This is a retrospective cohort study of pregnant women who participated in the California Prenatal Screening Program. CCHD data in the offspring was captured by linking birth certificate data with hospital patient discharge records. Second trimester samples were assayed for vascular endothelial growth factor (VEGF), platelet derived growth factor (PDGF) AA/BB, and PDGF AB...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28320605/percutaneous-closure-of-a-giant-coronary-artery-fistula-after-surgical-pericardiectomy-review-of-the-literature
#13
REVIEW
Leire Unzué, Eulogio García, Belén Díaz-Antón, Javier Fernández-Portales, Rodrigo Teijeiro, Miguel Rodríguez-Del-Río
Coronary artery fistulae (CAF) are uncommon heart defects defined as a communication between a coronary artery and a cardiac chamber or vascular structure. They are frequently asymptomatic; nevertheless, they can produce angina, dyspnea or cardiac failure. CAF are believed to be congenital; however, isolated cases of CAF have been described as rare complications of cardiac surgery. We report the percutaneous closure of a giant CAF in an adult patient with angina and previous pericardiectomy.
March 9, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28320512/effect-of-congenital-heart-disease-on-4-year-neurodevelopment-within-multiple-gestation-births
#14
Amy H Schultz, Richard F Ittenbach, Marsha Gerdes, Gail P Jarvik, Gil Wernovsky, Judy Bernbaum, Cynthia Solot, Robert R Clancy, Susan C Nicolson, Thomas L Spray, Donna McDonald-McGinn, Elaine Zackai, J William Gaynor
OBJECTIVES: We sought to assess the effect of congenital heart disease requiring infant surgery with cardiopulmonary bypass on neurodevelopmental outcomes and growth at 4 years of age, while matching for gestational age, socioeconomic status, maternal gestational conditions, home environment, and parental intelligence by studying multiple-gestation births. METHODS: We performed within-family comparison of 14 multiple-gestation births in which 1 child had congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age...
February 21, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28320222/demographic-and-perinatal-outcome-data-of-fetuses-with-sua-pruv
#15
Lulu Sun, Yanlin Wang
AIM: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis. METHODS: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database...
March 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#16
S E Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β-cell physiology. We sequenced the exome of a child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents...
March 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28315566/directly-ventricular-septal-defect-closure-without-using-arteriovenous-wire-loop-our-adult-case-series-using-transarterial-retrograde-approach
#17
Nihat Pekel, Ertuğrul Ercan, Mehmet Emre Özpelit, Ferhat Özyurtlu, Akar Yılmaz, Caner Topaloğlu, Serkan Saygı, Serkan Yakan, İstemihan Tengiz
OBJECTIVE: The standard transcatheter ventricular septal defects (VSD) closure procedure is established with arteriovenous (AV) loop and is called as antegrade approach. The directly retrograde transarterial VSD closure without using AV loop might be better option as shortens the procedure time and decreases radiation exposure. METHODS: Our series consist of twelve sequential adult cases with congenital VSDs (seven with perimembranous, four with muscular, one with postoperative residuel VSD)...
February 21, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#18
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28302746/current-interventional-and-surgical-management-of-congenital-heart-disease-specific-focus-on-valvular-disease-and-cardiac-arrhythmias
#19
Kimberly A Holst, Sameh M Said, Timothy J Nelson, Bryan C Cannon, Joseph A Dearani
Successful outcome in the care of patients with congenital heart disease depends on a comprehensive multidisciplinary team. Surgery is offered for almost every heart defect, despite complexity. Early mortality for cardiac surgery in the neonatal period is ≈10% and beyond infancy is <5%, with 90% to 95% of patients surviving with a good quality of life into the adult years. Advances in imaging have facilitated accurate diagnosis and planning of interventions and surgical procedures. Similarly, advances in the perioperative medical management of patients, particularly with intensive care, has also contributed to improving outcomes...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302740/genetics-and-genomics-of-congenital-heart-disease
#20
Samir Zaidi, Martina Brueckner
Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD...
March 17, 2017: Circulation Research
keyword
keyword
50727
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"