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Congenital heart defect

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https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28302658/analysis-of-the-psychosocial-impact-of-caretaking-on-the-parents-of-an-infant-with-severe-congenital-heart-defect
#6
Jessica Lazar, Mark Justin Hylarides
This case report considers the psychosocial burden of caring for an infant with a severe congenital heart defect (CHD) on parents. Improved prenatal diagnostics and postnatal surgical intervention have created a new and increasing demographic of children and adults with CHDs that require lifelong medical care. For this reason, primary caregivers spend excessive amounts of time in hospitals and medical facilities, and must regularly decipher vast amounts of unfamiliar medical terminology and concepts with varying levels of assistance from medical personnel...
March 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28302550/the-22q11-2-deletion-syndrome-in-congenital-heart-defects-prevalence-of-microdeletion-syndrome-in-cameroon
#7
Ambroise Wonkam, Ricardo Toko, David Chelo, Cedrik Tekendo-Ngongang, Samuel Kingue, Sophie Dahoun
BACKGROUND: The 22q11.2 deletion syndrome is amongst the most common microdeletion syndrome in humans. Its prevalence remains unknown in sub-Saharan Africa, and its clinical features are under-reported for people of African descent. OBJECTIVE: We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon. METHODS: A total of 70 of 100 cases of congenital cardiac malformation with echocardiographic evidence were examined prospectively and tested for the 22q11...
March 13, 2017: Global Heart
https://www.readbyqxmd.com/read/28302382/congenital-heart-defect-causing-mutation-in-nkx2-5-displays-in-vivo-functional-deficit
#8
Abeer F Zakariyah, Rashida F Rajgara, John P Veinot, Ilona S Skerjanc, Patrick G Burgon
The Nkx2.5 gene encodes a transcription factor that plays a critical role in heart development. In humans, heterozygous mutations in NKX2.5 result in congenital heart defects (CHDs). However, the molecular mechanisms by which these mutations cause the disease remain unknown. NKX2.5-R142C is a mutation that was reported to be associated with atrial septal defect (ASD) and atrioventricular (AV) block in 13-patients from one family. The R142C mutation is located within both the DNA-binding domain and the nuclear localization sequence of NKX2...
March 14, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28301892/evaluating-the-performance-of-ultrasound-screening-for-congenital-heart-disease-a-descriptive-cohort-study
#9
Rosemary J Froehlich, Lindsay Maggio, Phinnara Has, Erika F Werner, Dwight J Rouse
Objective The objective of this study was to evaluate the rate of abnormal fetal echocardiogram after normal detailed anatomy ultrasound when both are performed by maternal-fetal medicine specialists. Study Design Retrospective review of women who underwent detailed anatomy ultrasound and fetal echocardiography between 16 and 26 weeks' gestation at a single center. Women included had at least one indication for fetal echocardiography as recommended by the American Institute of Ultrasound in Medicine and normal cardiac anatomy on initial detailed anatomy ultrasound...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28299880/rates-of-autism-and-potential-risk-factors-in-children-with-congenital-heart-defects
#10
Jessica L Bean Jaworski, Thomas Flynn, Nancy Burnham, Jesse L Chittams, Therese Sammarco, Marsha Gerdes, Judy C Bernbaum, Robert R Clancy, Cynthia B Solot, Elaine H Zackai, Donna M McDonald-McGinn, J William Gaynor
OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders...
March 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28293976/evolution-of-hybrid-interventions-for-congenital-heart-disease
#11
Hitesh Agrawal, Wail Alkashkari, Damien Kenny
Surgical and transcatheter interventions have seen a tremendous evolution in last three decades. Hybrid technology combines the achievements of both disciplines to bring substantial hemodynamic benefit to patients with congenital heart disease (CHD) in a minimally invasive manner. This collaboration between surgeons and interventionalists will continue to grow as the technology evolves to meet the demands of CHD patients, potentially avoiding cardiopulmonary bypass and vascular access complications as well as optimizing immediate technical outcomes with exit angiography...
March 15, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28290856/-chronic-heart-failure-with-preserved-systolic-function-and-reversible-dilatation-of-cardiac-chambers
#12
O V Blagova, S V Volkov, A V Nedostup, A O Korobkov, I V Mostovoy, N G Sergushina, N V Gagarina, E A Mershina
Diagnosis of dilation (D) cardiomyopathy (CMP) requires exclusion not only of inflammatory and genetically determined forms but also of some rare diseases. This 51 year old patient with history of moderate arterial hypertension approached a cardiologist because of new onset atrial fibrillation and dyspnea. Echocardiography detected dilation of all cardiac chambers with relatively preserved ejection fraction, causing suspicion of DCMP. Among conditions excluded were coronary atherosclerosis, congenital heart defect with left to right shunt, primary pulmonary hypertension, pulmonary embolism, hypertensive heart, tachycardia induced CMP, arrhythmogenic right ventricular dysplasia, noncompaction myocardium...
June 2016: Kardiologiia
https://www.readbyqxmd.com/read/28290851/-degenerative-aortic-stenosis-modern-view-on-development-course-and-management
#13
A L Burdeinaya, M S Safarova, M V Ezhov, V V Kukharchuk
Degenerative aortic stenosis is an acquired heart defect manifesting as progressive thickening and calcification of leaflets of originally normal tricuspid or congenital bicuspid aortic valve with development of orifice narrowing, left ventricular hypertrophy, and high risk of cardiovascular complications. In this review we present modern concepts of formation and progression of degenerative aortic stenosis and discuss optimal methods of management of this disease.
June 2016: Kardiologiia
https://www.readbyqxmd.com/read/28290794/-hemodynamic-derangements-in-patients-with-functional-univentricular-heart-mechanisms-of-development-possibilities-of-treatment
#14
I A Kovalev, S Ovroutski, I V Plotnikova, A A Tupikina
Heart failure (HF) is a predictable outcome of nearly all cardiovascular diseases including congenital heart diseases (CHD). A special category comprises patients with functional single ventricle (FSV) of the heart because of extreme diversity of anatomical changes of the heart and great vessels, complex mechanisms of development of HF, multistage surgical correction of the defect, presence of arrhythmias, progressive rise of pulmonary vascular resistance, etc. Prevention and treatment of HF in patients with FSV includes surgical optimization of pulmonary blood flow during neonatal period, timely staged surgical correction of the defect, pharmacotherapy, cardiac resynchronization therapy, and in severe cases mechanical cardiac support and heart transplantation...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28288113/germline-mutations-in-abl1-cause-an-autosomal-dominant-syndrome-characterized-by-congenital-heart-defects-and-skeletal-malformations
#15
Xia Wang, Wu-Lin Charng, Chun-An Chen, Jill A Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L Arnold, Chunjing Qu, Yan Ding, Donna M Muzny, Richard A Gibbs, Christine M Eng, Magdalena Walkiewicz, Fan Xia, Sharon E Plon, James R Lupski, Christian P Schaaf, Yaping Yang
ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL1 in the Philadelphia chromosome of leukemia cancer cells. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (families 1-3)...
March 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28287452/congenital-anomalies-in-contaminated-sites-a-multisite-study-in-italy
#16
Michele Santoro, Fabrizio Minichilli, Anna Pierini, Gianni Astolfi, Lucia Bisceglia, Pietro Carbone, Susanna Conti, Gabriella Dardanoni, Ivano Iavarone, Paolo Ricci, Gioacchino Scarano, Fabrizio Bianchi, RiscRipro Sentieri Working Group
The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this study was to estimate the risk of congenital anomalies (CAs) in Italian CSs. Thirteen CSs covered by regional CA registries were investigated in an ecological study. The observed/expected ratios (O/E) with 90% confidence intervals (CI) for the total and specific subgroups of CAs were calculated using the regional areas as references...
March 10, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28286691/spina-bifida-pathogenesis-mechanisms-and-genes-in-mice-and-humans
#17
REVIEW
Siti W Mohd-Zin, Ahmed I Marwan, Mohamad K Abou Chaar, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition...
2017: Scientifica
https://www.readbyqxmd.com/read/28286566/gastrointestinal-manifestations-of-mitochondrial-disorders-a-systematic-review
#18
REVIEW
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28286266/diabetes-induced-effects-on-cardiomyocytes-in-chick-embryonic-heart-micromass-and-mouse-embryonic-d3-differentiated-stem-cells
#19
Omar J Mohammed, Muhammad Liaque Latif, Margaret K Pratten
Diabetes mellitus during pregnancy is a considerable medical challenge, since it is related to ‎augmented morbidity and mortality concerns for both the fetus ‎and the pregnant woman. Records show that the etiology of diabetic ‎embryopathy is complicated, as many teratological factors might be involved ‎in the mechanisms of diabetes mellitus-induced congenital malformation. ‎In this study, the potential cardiotoxic effect of hyperglycemia with hyperketonemia was investigated by using two in vitro models; primary chick embryonic cardiomyocytes and stem cell derived cardiomyocytes, where adverse effects were recorded in both systems...
March 9, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28286254/sibling-recurrence-of-total-anomalous-pulmonary-venous-drainage
#20
J H McDermott, D D D Study, J Clayton-Smith
Many childhood syndromic disorders are associated with congenital heart defects, but few present specifically with total anomalous pulmonary venous drainage (TAPVD). Here, we report two siblings presenting with TAPVD, tracheo-oesophageal fistula and dysmorphic features in the neonatal period. Careful examination of the mother revealed subtle facial asymmetry and a pre-auricular tag, suggesting a potential variable expression of a dominant disorder. Whole exome sequencing identified a pathogenic heterozygous mutation in EFTUD2, a gene, normally associated with mandibulofacial dystosis Guion-Almedia type (MFDGA), in both siblings and the mother...
March 7, 2017: European Journal of Medical Genetics
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