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At least 37 records · Page 2Linked to original sources
PubMed1998

Recent progress in the molecular genetics of congenital heart defects.

Congenital heart defects (CHD) constitute the single most common anatomic class of birth defects and are a major cause of infant mortality. Correlation of normal and pathological embryology/anatomy has led to the formulation of mechanistic models, but there is limited understanding of the genetic basis for the inferred embryological processes. Most evidence points to extensive etiologic heterogeneity and a re-evaluation of simple multifactorial models is required. The recent identification of several genes responsible for congenital heart defects in the context of more complex clinical disorders provides significant entry points for the genetic analysis of human heart development. The association of aneusomies (particularly microdeletion syndromes) with specific cardiac lesions provides further strong support for mechanistic classification. Studies in the mouse are laying the groundwork for a comprehensive genetic model of cardiac organogenesis. Nevertheless, the basis for the large majority of CHD, especially isolated defects, remains obscure. Dissection of the genetic components of CHD is one of the greatest challenges in medical genetics for the coming decades.

Animals↗
PubMed1978

Association of atrioventricular valve atresia with single ventricle, truncus arteriosus communis and transposition. A basic reorientation in the approach to the definition of congenital heart defects.

A heart specimen is presented which showed a rare combination of atrioventricular valve atresia with single ventricle, truncus arteriosus communis with an anteriorly placed trunk, ie transposition. Because of the problems involved in the classification of this heart, the types of single ventricle are revised with particular attention to the rare cases of atrioventricular valve atresia and single ventricle reported in the literature. Also the rare type of truncus arteriosus communis with truncoatrioventricular valve discontinuity is excluded from the so-called transposition complexes, and properly classified as a form of truncus. The literal meaning of transposition is stressed and it is urged to approach congenital heart defects in a purely anatomic sense with definition of each segment as accurately as possible. Thus the present confusion in terminology and further plethora of new terms are avoided.

Child↗
PubMed2002

[Congenital heart defects. Varying degrees of severity; 25 percent of children with heart defects will have persistent cardiac problems in adulthood].

In a population based study including 35,218 infants born alive during the 15-year period 1982-1996, 360 (1%) were diagnosed having a congenital heart defect (CHD). At a follow-up 3-18 years later (median 9.5 years) 154 patients (42.8%) were spontaneously cured, of whom 142 (92.2%) had ventricular septal defects (VSD). 42 patients (11.7%) had died, 22 of whom (52.4%) during the neonatal period (0-28 days after birth). A total of 119 patients (33.1%) underwent therapeutic procedures (surgery, catheter interventions), of whom 24 (20.2%) died. Of the 95 children surviving therapeutic procedures 54 (56.8%) had their defects completely repaired, while 41 (43.2%) had residual defects or cardiac sequelae, often of minor importance. Of 69 children (19.2%) with persistent untreated defects, 43 (62.3%) had VSD. A chromosomal disorder, various syndromes or extracardiac malformations occurred in 72 children (20%). The study underlines the fact that CHD presents itself in varying degrees of severity, including a high neonatal mortality rate as well as a high rate of spontaneous cure.

Abnormalities, Multiple↗
PubMed1993

Epidemiology, etiology and pathogenesis of congenital heart defects.

Congenital heart defects (CHD) are a frequent cause of death and disability and cause a significant toll in terms of personal distress and social costs. The only satisfactory way of reducing this burden is through primary prevention, which in turn can be implemented only when the cause and mechanism of these defects is known. While current knowledge on the impact on the population and on the etiology and pathogenesis of CHD is still largely unsatisfactory, some progress has been made in recent times and promising research is currently being performed; these topics are discussed in this paper, with special emphasis on quantitative risk assessment of putative cardiac teratogens.

Chromosome Aberrations↗
PubMed2006

Homocysteine concentrations and molecular analysis in patients with congenital heart defects.

BACKGROUND: Congenital heart defects are the result of incomplete heart development and, like many diseases, have been associated with high homocysteine concentration. METHODS: We evaluated homocysteine, folic acid and vitamin B(12) concentrations, and the mutations 677C>T and 1298A>C in MTHFR, 844ins68 in CBS and 2756A>G in MTR genes in 58 patients with congenital heart defects, 38 control subjects, and mothers of 49 patients and 26 controls. RESULTS: Control and patients presented normal range concentrations for homocysteine (7.66 +/- 3.16 microM and 6.95 +/- 3.12 microM, respectively), folic acid (8.31 +/- 3.00 ng/mL and 11.84 +/- 10.74 ng/mL) and vitamin B(12,) (613.56 +/- 307.57 pg/mL and 623.37 +/- 303.12 pg/mL), which did not differ among groups. For the mothers studied, homocysteine and vitamin B(12) concentrations also did not differ between groups. However, folic acid concentrations of mothers showed significant difference, the highest values being in the group of patients. No difference was found in allele frequencies among all groups studied. CONCLUSIONS: In the studied groups, high homocysteine seems not to be correlated with congenital heart defects, as well as folic acid and vitamin B(12). The mutations studied, in isolation, were not related to congenital heart defects, but high concentration of maternal homocysteine is associated with the presence of three or four mutated alleles.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗
PubMed1999

Developmental progress of children with congenital heart defects requiring open heart surgery.

Recent advances for infants requiring early open heart surgery have resulted in a dramatic decline in mortality and severe morbidity. The developmental progress of these new survivors is currently being defined. Causes contributing to brain injury are multifactorial, and may involve preoperative, intraoperative, and postoperative events. Before surgery, these children often exhibit hypotonia, poor state regulation, microcephaly, and developmental delays. These findings are particularly prevalent in newborns. In the acute postoperative period, neurodevelopmental deficits continue to manifest clinically. Long-term follow-up studies indicate that subtle neurological deficits and global developmental lags are characteristic of this population. Overall, severe neurological sequelae are uncommon; however, mild to moderate developmental disabilities are prevalent. Functional limitations, academic achievements, and health-related quality of life are areas that deserve further attention.

Achievement↗
PubMed1990

[Percutaneous transluminal balloon valvuloplasty and balloon angioplasty in congenital heart defects with left heart obstruction in childhood].

Balloon dilation was performed in 31 patients with congenital left heart obstructions. In 16 patients with aortic stenosis aged 2 days to 16.3 years (mean 10.03 +/- 4.79 years) the peak systolic gradient decreased significantly from 80 +/- 21 mmHg to 23 +/- 13 mmHg immediately after dilation, and remained low at the time of follow up (6 months to 3 years), namely 30 +/- 12 mmHg (p less than 0.0001). Mild aortic regurgitation (I degrees) was already present before the procedure in 56%, increased in 3 patients, and reached haemodynamic significance in 1 (III degrees). Half of the 14 patients with coarctation, aged 2 months to 16.75 years (mean 4.98 +/- 5.15 years), had undergone previous surgery 2 months to 7.9 years before the balloon dilation; coarctation was native in the remainder. Peak systolic gradient across the coarctation site was reduced from 46 +/- 10 mmHg to 5 +/- 5 mmHg, and was 9 +/- 7 mmHg at the time of follow up (6 months-3.6 years) (p less than 0.0001). Aneurysms were not detected. In a 6-year-old girl with congenital mitral stenosis the gradient fell from 13 mmHg to 7 mmHg immediately after the procedure. There were no serious complications. Peripheral arterial lesions required medical or surgical treatment in 16% of cases. Our report suggests that balloon valvuloplasty and angioplasty is a safe and well-tolerated procedure in childhood. It can reduce the gradient in congenital left heart obstructions with good short-term and intermediate-term results.

Adolescent↗