Results 51 to 60 of about 159,275 (311)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Prenatally Diagnosed Isolated Coronary Arterial Fistula Leading to Severe Complications at Birth

Case Reports in Cardiology, 2018
Prenatal diagnosis of a huge coronary artery fistula between the left coronary artery and the right ventricle was made by Doppler echocardiography at 22 weeks of gestation. Progression of the dilated fistula was monitored throughout pregnancy.
A. Wacker-Gussmann, T. Esser, S. M. Lobmaier, M. O. Vogt, E. Ostermayer, R. Oberhoffer   +5 more
doaj   +1 more source

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Fenech, Albert, Formosa Gouder, Mireille, Grech, Victor E., Magic, Jadran, Manche, Alexander   +6 more
core  

Ventricular Function in Congenital Heart Defects [PDF]

Frontiers in Pediatrics, 2016
In order to understand the physiology of the neonatal heart, one must have an understanding of both the fetal circulation and the cardiac function of the adult heart. Transitional changes occur in the neonatal period, where the function of one ventricle has important effects on the function of the contralateral ventricle (1).
openaire   +3 more sources

Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management [PDF]

, 2016
Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks).
Abed, M.m., CAIARO, ANGELA, CECCACCI, IRENE, Celani, S., COLLORIDI, Fiorenza, GIANCOTTI, Antonella, Messina, E., VENTRIGLIA, Flavia, Vitiello, L.   +8 more
core   +1 more source

Maternal Homocysteine and Congenital Heart Defects

Journal of the American College of Cardiology, 2006
To the Editor: An estimated 80% of congenital heart defects result from an interaction between susceptibilities in parental and fetal genomes and environmental exposures including maternal lifestyle factors ([1][1]). We and others have recently reported that women who have congenital heart defect-
Weizhi Zhao, Charlotte A. Hobbs, S. Jill James, Stepan Melnyk, Sadia Malik, Mario A. Cleves   +5 more
openaire   +3 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Trends in Nutritional Status and Dietary Behavior in School-Aged Children with Congenital Heart Defects

Children
Background: Malnutrition and poor weight gain has been reported in infants with congenital heart defects (CHDs); however data in older children with CHDs are limited. In order to obtain representative data on the nutritional status, dietary behavior, and
Dominik Tobias, Paul Christian Helm, Ulrike Maria Margarethe Bauer, Claudia Niessner, Sigrid Hahn, Jannos Siaplaouras, Christian Apitz   +6 more
doaj   +1 more source

Heart transplantation in children with congenital heart disease [PDF]

, 1932
ObjectivesThe aim of this study was to describe heart transplantation in children with congenital heart disease and to compare the results with those in children undergoing transplantation for other cardiac diseases.BackgroundReports describe decreased ...
Daphne T. Hsu, Jan M. Quaegebeur, Robert E. Michler, Craig R. Smith, Eric A. Rose, Maryanne R. Kichuk, Welton M. Gersony, Judith F. Douglas, Linda J. Addonizio, Morris, Fontan, Hosenpud, Doty, Chartrand, Mayer, Cooper, Bailey, Menkis, Richenbacher, Harjula, Rietz, Radley-Smith, Trento, Armitage, Hasan, Addonizio, Chartrand, Baum, Merrill, Addonizio, Triedman   +30 more
core   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source