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cardiac malformation

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https://www.readbyqxmd.com/read/28076893/-pseudo-feeders-on-fetal-mri-predict-outcome-in-vein-of-galen-malformations
#1
Guillaume Saliou, Irène Vraka, Jean-Paul Teglas, Marie-Victoire Senat, Philippe Durand, Claire Colmant, Augustin Ozanne, Jelena Martinovic, Pierre Tissiere, Catherine Adamsbaum
OBJECTIVE: While vein of Galen aneurysmal malformations (VGAM) can be diagnosed in the fetus, the challenge is predicting the occurrence of its two major complications: cardiopulmonary failure and encephalomalacia. This study attempts to determine which fetal brain MRI features might be used to predict the development of these complications at birth. METHODS: The cohort was extracted from a prospectively-assembled database of VGAM cases managed at a single referral centre from 2000 to 2014...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28062680/mitral-valve-replacement-using-a-handmade-construct-in-an-infant
#2
Steven Bibevski, Alexandra Levy, Frank G Scholl
We recently reported the feasibility of a handmade left atrioventricular valve using decellularized extracellular matrix for 3 months in a failed repair of AV canal defect. We present the use of an extracellular matrix mitral valve for 9 months in an infant with an un-repairable congenitally malformed valve. The valve functioned perfectly without anticoagulation until the patient expired from non-cardiac complications of their fibrillin gene defect. This report adds further experience using valves made from extracellular matrix in the systemic ventricle both in terms of application and in terms of short-term durability of the construct...
January 6, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28062416/blood-flow-patterns-underlie-developmental-heart-defects
#3
Madeline Midgett, Kent L Thornburg, Sandra Rugonyi
Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans, and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes...
January 6, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28054837/radiosurgery-alters-the-endothelial-surface-proteome-externalized-intracellular-molecules-as-potential-vascular-targets-in-irradiated-brain-arteriovenous-malformations
#4
Lucinda S McRobb, Vivienne S Lee, Margaret Simonian, Zhenjun Zhao, Santhosh George Thomas, Markus Wiedmann, Jude V Amal Raj, Michael Grace, Vaughan Moutrie, Matthew J McKay, Mark P Molloy, Marcus A Stoodley
Stereotactic radiosurgery (SRS) is an established treatment for brain arteriovenous malformations (AVMs) that drives blood vessel closure through cellular proliferation, thrombosis and fibrosis, but is limited by a delay to occlusion of 2-3 years and a maximum treatable size of 3 cm. In this current study we used SRS as a priming tool to elicit novel protein expression on the endothelium of irradiated AVM vessels, and these proteins were then targeted with prothrombotic conjugates to induce rapid thrombosis and vessel closure...
January 5, 2017: Radiation Research
https://www.readbyqxmd.com/read/28049537/imperforated-cor-triatriatum-dexter-in-a-dog-with-concurrent-caudal-vena-cava-wall-mineralization
#5
Tetyda Paulina Dobak, Gregory Starrak, Kathleen Linn, Elisabeth Christine Roberston Snead
BACKGROUND: Cor triatriatum dexter (CTD) is a rare congenital cardiac malformation with various manifestations and has been sporadically described in dogs. Clinically the dogs present with nonspecific signs of right heart failure or Budd-Chiari-like syndrome. Other associated concurrent cardiovascular anomalies are commonly reported. Diagnosis and full characterization of this complex malformation requires careful investigation and often a multimodal imaging approach. CASE PRESENTATION: A 10-week-old, male intact, Golden Retriever was presented with clinical signs of stunted growth, anorexia, and progressive ascites...
January 3, 2017: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/28043739/canadian-cardiovascular-society-canadian-pediatric-cardiology-association-position-statement-on-pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#6
Kenny K Wong, Anne Fournier, Deborah S Fruitman, Lisa Graves, Derek G Human, Michael Narvey, Jennifer L Russell
Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity...
October 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28043462/right-ventricular-outflow-tract-reconstruction-with-a-polytetrafluoroethylene-monocusp-valve-a-20-year-experience
#7
Mohineesh Kumar, Mark W Turrentine, Mark D Rodefeld, Teresa Bell, John W Brown
In patients with tetralogy of Fallot (TOF), pulmonary atresia (PA), and other congenital right ventricular outflow tract (RVOT) malformations, polytetrafluoroethylene (PTFE) monocusp outflow tract patches (MOTP) relieve obstruction and provide pulmonary valve competence. The purpose of this study was to determine whether our PTFE-MOTP was an acceptable short- and mid-term remedy for patients with TOF or PA as assessed by freedom from severe pulmonary regurgitation and freedom from reoperation. From 1994-2014, 171 patients (mean age 1...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28043191/fetal-intraabdominal-umbilical-vein-varix-antenatal-diagnosis-and-management
#8
Murat Aykut Ozek, Pinar Calis, Merih Bayram, Deniz Karcaaltincaba
OBJECTIVE: Fetal intraabdominal vein varix (FIUVV) is sonographic finding with unknown prevalence. We aimed to point out this particular abnormality and review possible associations and complications which may arise. METHOD: We performed an unrestricted literature search via PubMed and included all cases diagnosed with FIUVV. CASE PRESENTATION: A 24-year-old, gravida 1 para 0 woman was referred to our clinic with possible diagnosis of FIUVV...
January 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28032463/developmental-toxicity-studies-of-lumefantrine-and-artemether-in-rats-and-rabbits
#9
Robert L Clark, Maureen Youreneff, Anthony M DeLise
The combination of artemether plus lumefantrine is a type of artemisinin-based combination therapy (ACT) recommended by the World Health Organization for uncomplicated falciparum malaria except in the first trimester of pregnancy. The first trimester restriction was based on the marked embryotoxicity in animals (including embryo death and cardiac and skeletal malformations) of artemisinins such as artesunate, dihydroartemisinin, and artemether. Before recommending ACTs for use in the first trimester, the World Health Organization has requested that all information relevant to the assessment of risk of ACTs to the embryo be made available to the public...
December 2016: Birth Defects Research. Part B, Developmental and Reproductive Toxicology
https://www.readbyqxmd.com/read/28032368/clinical-presentation-and-echocardiographic-characteristics-of%C3%A2-uhl-s-anomaly
#10
Christos G Mihos, Maiteder Larrauri-Reyes, Evin Yucel, Orlando Santana
Uhl's anomaly is a rare cardiac malformation that results in partial or complete absence of the right ventricular myocardium. It most commonly presents in prenatal or newborn infants; however, it may also be found in some adults as advanced right-sided heart failure. Differential diagnoses include arrhythmogenic right ventricular dysplasia and Ebstein's anomaly. Herein, we describe the clinical presentation of Uhl's anomaly in a previously undiagnosed middle-aged adult, and review the echocardiographic criteria used to diagnose and differentiate this rare, albeit important, myocardial disorder...
December 29, 2016: Echocardiography
https://www.readbyqxmd.com/read/28029591/cardiorespiratory-interactions-in-paediatrics-it-s-almost-always-the-circulation-stupid
#11
REVIEW
M L Rigby, M Rosenthal
The interaction of the heart and lungs is probably the most important aspect of life and survival. Fortunately, it is not difficult to understand the fundamentals. The purpose of the lungs and their ventilation is to present oxygen to the circulation via the alveoli and to receive carbon dioxide from the circulation and then expel it. The relations of the heart and lungs and the matching of blood flow to the various organs with ventilation and lung perfusion may be disrupted by a variety of congenital or acquired heart malformations...
August 12, 2016: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#12
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28003925/fetal-valproate-syndrome-with-limb-defects-an-indian-case-report
#13
Manisha Goyal, Ashok Gupta, Manish Sharma, Priyanshu Mathur, Naresh Bansal
Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and genitourinary malformations, and limb defects...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28002851/prenatal-ultrasonographic-diagnosis-of-cataract-in-utero-manifestations-of-cryptic-disease
#14
Eran Ashwal, Asaf Achiron, Yinon Gilboa, Michal Berkenstadt, Mordecai Rosner, Reuven Achiron
Purpose To report and review our experience with antenatal evaluation for fetuses diagnosed with congenital cataract. Materials and Methods We retrospectively identified pregnancies diagnosed with fetal cataract during antenatal ultrasound. Evaluation of fetal eyes included intraocular anatomy and biometry. Data on fetal malformations, serology and fetal karyotype were collected. Results 8 cases, identified over the course of 10 years, were reviewed. Week 15 was the mean time for diagnosis (range 11 - 34)...
December 21, 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#15
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27981284/complete-atrioventricular-septal-defect-in-the-era-of-prenatal-diagnosis
#16
REVIEW
Daniel Mureşan, Claudiu Mărginean, Gabriela Zaharie, Florin Stamatian, Ioana Cristina Rotar
Complete atrioventricular septal defect (CAVSD) is a fetal cardiac malformation (5% of all cardiac malformations) that can be detected prenatally with a reserved prognosis. The diagnosis can be suspected early at the end of the first trimester using the transabdominal or transvaginal ultrasound approach. Generally, the diagnostic can be established during the mid-trimester scan at 19-24 weeks of gestation. The percentage of antenatal diagnostic of CAVSD is between 57-92%. This review aims to analyze the anatomical principles and the ultrasound techniques that can improve the prenatal diagnosis of CAVSD...
December 5, 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27977032/multiple-pathological-ocular-findings-in-a-patient-with-phace-syndrome
#17
Elif Demirkilinc Biler, Onder Uretmen
The authors describe a 2-year-old girl diagnosed as having posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities (PHACE) syndrome that presented with a large facial hemangioma of the forehead and eyelid, ptosis, microphthalmia, persistent pupillary membrane and pupillary ectopia, congenital oculomotor nerve palsy of the affected eye, and bilateral optic disc dysplasia. [J Pediatr Ophthalmol Strabismus. 2016;53:e72-e74.].
December 8, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27973931/anesthetic-management-of-a-patient-with-emanuel-syndrome
#18
Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama
Emanuel syndrome is associated with supernumerary chromosome, which consists of the extra genetic material from chromosome 11 and 22. The frequency of this syndrome has been reported as 1 in 110,000. It is a rare anomaly associated with multiple systemic malformations such as micrognathia and congenital heart disease. In addition, patients with Emanuel syndrome may have seizure disorders. We experienced anesthetic management of a patient with Emanuel syndrome who underwent palatoplasty. This patient had received tracheotomy due to micrognathia...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27964749/truncating-de-novo-mutations-in-the-kr%C3%A3-ppel-type-zinc-finger-gene-znf148-in-patients-with-corpus-callosum-defects-developmental-delay-short-stature-and-dysmorphisms
#19
Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, Abdallah F Elias, Jaclyn A Haven, Stefan H Lelieveld, Rolph Pfundt, Willy M Nillesen, Helger G Yntema, Kees van Roozendaal, Alexander P Stegmann, Christian Gilissen, Han G Brunner
BACKGROUND: Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only few ZNF genes are currently linked to human disorders and identification of ZNF gene-associated human diseases may help understand their function...
December 13, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27959615/developmental-mechanisms-of-aortic-valve-malformation-and-disease
#20
Bingruo Wu, Yidong Wang, Feng Xiao, Jonathan T Butcher, Katherine E Yutzey, Bin Zhou
Normal aortic valves are composed of valve endothelial cells (VECs) and valve interstitial cells (VICs). VICs are the major cell population and have distinct embryonic origins in the endocardium and cardiac neural crest cells. Cell signaling between the VECs and VICs plays critical roles in aortic valve morphogenesis. Disruption of major cell signaling pathways results in aortic valve malformations, including bicuspid aortic valve (BAV). BAV is a common congenital heart valve disease that may lead to calcific aortic valve disease (CAVD), but there is currently no effective medical treatment for this beyond surgical replacement...
December 9, 2016: Annual Review of Physiology
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