Disease relevance of Heart Defects, Congenital

• We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects) [1].
• To determine whether ATP-MgCl2 is a preferential pulmonary vasodilator in children with pulmonary hypertension secondary to congenital heart defects, ATP-MgCl2 was administered during routine cardiac catheterization, and the effects were compared with tolazoline [2].
• All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis [3].
• Second natural history study of congenital heart defects. Quality of life of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect [4].
• Although underlying heart disease was present (congenital heart defects in 10 and dilated cardiomyopathy in 1), only 2 patients had severely depressed cardiac function as demonstrated by 2D echocardiogram before administration of AVP [5].

Psychiatry related information on Heart Defects, Congenital

• Mild mental retardation, microcephaly, and congenital heart defect were found only in the son [6].

High impact information on Heart Defects, Congenital

• In contrast, age at repair correlated poorly with cognitive function in children with ventricular septal defect, an acyanotic congenital heart defect [7].
• Recently, ten different heterozygous CSX/NKX2.5 mutations were found in patients with congenital heart defects that are transmitted in an autosomal dominant fashion [8].
• These data imply that gain-of-function SHP-2 mutants disrupt the Ca2+ oscillatory control of NFAT, suggesting a potential mechanism for congenital heart defects in Noonan syndrome [9].
• Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects [10].
• Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss [3].

Chemical compound and disease context of Heart Defects, Congenital

• Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1 [3].
• Prostaglandin E1, to maintain patency of the ductus, is now established in the emergency management of several congenital heart defects causing problems in the newborn [11].
• Observational studies in general support an association between maternal use of multivitamins containing folic acid and a reduction in the occurrence of congenital heart defects and orofacial clefts [12].
• Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism [13].
• Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice [14].

Biological context of Heart Defects, Congenital

• CONCLUSION: In children with congenital heart defects, plasma BNP correlates closely to ventricular function [15].
• We investigated the effect of i.v. sildenafil treatment on cerebral oxygenation in 13 children with elevated pulmonary vascular resistance due to congenital heart defects after cardiac surgery using near-infrared spectroscopy (NIRS) [16].
• Thyroid hormone status was assessed in 132 children with congenital heart defects undergoing cardiac surgery (median age 3.1 y; range 2 d to 16.2 y) [17].
• Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome) [18].
• This sample showed an association between genetic variation in the COL6A1 gene region and congenital heart defects in trisomy 21 [18].

Anatomical context of Heart Defects, Congenital

• Morphologic features of the ductus arteriosus after prostaglandin E1 administration for ductus-dependent congenital heart defects [19].
• Endogenous norepinephrine stimulates both alpha 1- and beta-adrenoceptors in myocardium from children with congenital heart defects [20].
• Interestingly, the region encompassing the SNF1LK locus has been implicated in congenital heart defects often observed in patients with Down syndrome. snf1lk is also expressed in skeletal muscle progenitor cells of the somite beginning at 9.5 dpc [21].
• BACKGROUND: Type B interrupted aortic arch with ventricular septal defect is a complex congenital heart defect that may have associated left ventricular outflow tract obstruction [22].
• The SH3BGR gene is expressed in fetal and adult heart and in skeletal muscle and therefore it is a candidate gene for the congenital heart defect and muscle hypotonia [23].

Gene context of Heart Defects, Congenital

• Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects [24].
• Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval [25].
• GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 [26].
• We present for the first time functionally relevant mutations of CITED2 in patients with congenital heart defects (CHDs) [27].
• Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice [28].

Analytical, diagnostic and therapeutic context of Heart Defects, Congenital

• Second natural history study of congenital heart defects. Ventricular septal defect: echocardiography [29].
• The effectiveness of oral transmucosal fentanyl citrate (OTFC) as preanesthetic medication was compared with oral meperidine, diazepam, and atropine (MDA) in 40 pediatric patients scheduled to undergo repair of congenital heart defects [30].
• Indications for heart transplantation included congenital heart defect (29 patients), cardiomyopathy (40 patients), valvular disease (1 patient), and retransplantation (3 patients) [31].
• Time course of endothelin-1 and nitrate anion levels after cardiopulmonary bypass in congenital heart defects [32].
• OBJECTIVE: To describe the use of intravenous adenosine to create transient cardiac standstill during balloon dilatation procedures for congenital heart defects [33].

References