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PubMed1999

Developmental and genetic aspects of congenital heart disease.

Congenital heart defects (CHDs) are the result of abnormal cardiac mesoderm or cardiac neural crest development. The molecular cause of most congenital heart disease remains unknown, although numerous cardiac regulatory factors have recently been described. dHAND and eHAND are basic helix-loop-helix transcription factors expressed differentially in the right and left ventricles, respectively, and in the cardiac neural crest. Mice lacking dHAND have a hypoplastic right ventricle and abnormal development of vessels arising from the heart and cell death of craniofacial precursors. By searching for dHAND-dependent genes, a gene likely responsible for the cardiac and craniofacial defects associated with chromosome 22q11 deletion has been identified. A systematic dissection of molecular pathways involved in cardiogenesis should allow for further identification of genes responsible for CHD.

Adaptor Proteins, Vesicular Transport↗
PubMed2005

Pregnancy in women with congenital heart disease.

Congenital heart disease is the most common form of structural heart disease affecting women of childbearing age in developed countries. Pregnancy in these patients is associated with an increased risk to both mother and fetus. Appropriate prepregnancy evaluation and counseling is recommended to assess the pregnancy-related maternal and fetal risk and to identify patients who should avoid pregnancy. Once pregnancy occurs, cardiovascular reevaluation is generally recommended; the frequency is individualized. Monitoring during delivery may be necessary and the postpartum period is a concern in select individuals. Data regarding the outcome of pregnancy in patients with operated congenital cardiac defects are available. Individualized care is mandatory.

Adult↗
PubMed2002

[Surgical treatment ot congenital heart disease].

Congenital heart disease is a heterogeneous group of intra- and extra-cardiac abnormalities of very variable prognosis, which have been classified according to their structural and functional consequences. The functional abnormalities are mainly centered on variations of pulmonary arterial flow that can generally be managed by simple palliative procedures. The extra-cardiac abnormalities affect preferentially the aorta. They may be embryonic vascular remnants responsible for tracheo-bronchial compression or obstructive lesions which are amenable to different types of vascular reconstruction procedures. These anomalies may be isolated or form part of a more complex malformative syndrome. Complete repair may be possible using techniques adapted to the main structural abnormalities of the cardiac architecture: reconstruction of the atrial or ventricular septa, restoration of the ventricular outflow tracts and redirection of blood flow within the atria. Among the therapeutic motivations developed for complete repair over the last decade, reconstruction of the pulmonary arteries by unifocalisation and Ross' procedure for left ventricular outflow tract abnormalities deserve special mention; in addition, a major therapeutic principle has been established for repair of ventriculoatrial malposition and discordance: the re-connection of the aorta with the left ventricle.

Aorta↗
PubMed2003

Genetic analysis of chromosome 22q11.2 markers in congenital heart disease.

Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large number of CHD patients (>120) and their normal relatives (>220). The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers. This indicates that there is no linkage disequilibrium with these markers in CHD. In the level of heterozygosity for each marker in nonsyndromic CHD and conotruncal heart defect (CTD), there were no significant differences between the two populations. In syndromic CHD, the level of heterozygosity for D22S1648 was significantly lower than that observed in the unaffected population (chi(2) = 11.25; P = 0.001). This suggests that there may be a deletion at the D22S1648 locus, and the low heterozygosity of D22S1648 indicates that this marker can be used as a genetic marker for detecting microdeletions in 22q11.2. With the use of fluorescence in situ hybridization (FISH) and real-time quantitative polymerase chain reaction (PCR) performed on syndromic patients, we confirmed the molecular results.

Chromosome Mapping↗
PubMed2004

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

Congenital heart disease (CHD), comprising structural or functional abnormalities present at birth, is the most common birth defect in humans. Reduced expression of connexin40 (Cx40) has been found in association with atrial fibrillation, and deletion of Cx40 in a mouse model causes various structural heart abnormalities in 18% of heterozygotes. We screened 505 unrelated CHD cases for deletions or duplications of the Cx40 gene (GJA5) by real-time quantitative PCR, in order to determine whether altered copy number of this gene may be associated with a cardiac phenotype in humans. Dosage of Cx40 flanking genes (ACPL1 and Cx50 gene, GJA8) was determined by real-time PCR for all apparent positive cases. In total, 3 cases were found to carry deletions on chromosome 1q21.1 spanning ACPL1, Cx40, and Cx50 genes. Absence of heterozygosity was observed in all 3 index cases over a 1.5- to 3-Mb region. Samples from the parents of two cases were obtained, and microsatellites across 1q21.1 were genotyped. One of the apparently unaffected parents was found to carry this deletion. All 3 index cases presented with obstruction of the aortic arch as the common structural cardiac malformation, and had no consistent dysmorphic features. Genotyping of 520 unrelated normal controls for this deletion was negative. We hypothesize that this 1q21.1 multigene deletion is associated with a range of cardiac defects, with anomalies of the aortic arch being a particular feature.

Acid Phosphatase↗
PubMed1998

Counselling strategies for parents of infants with congenital heart disease.

Congenital heart disease is a significant cause of morbidity and mortality in the newborn. Its diagnosis may lead to a crisis in the affected families; there are the perceived implications of having an abnormality of so vital an organ. To that may be added the assumed guilt or blame, grief and at times anger, frequently experienced by parents of abnormal infants. It often befalls the paediatric cardiologist to initiate counselling while providing the expert information concerning the abnormality and its optimum management. Such counselling differs from that needed for minor lesions as compared for more complex abnormalities where a fatal outcome may ensure. While it is important to provide an accurate diagnosis and management plan to the parents, early detailed information is often confusing and may not be assimilated at a time of great stress. The parents seem more concerned as to whether the infant will survive, what the long term outlook will be, whether he or she will attend school, play, work and so on. With the more severe cardiac abnormalities, especially where there is a family history, one need be aware of the often perceived guilt of the parents. At times, it may be necessary to help the parents retain sufficient 'self-control', delaying the grieving process to enable them to contribute to the decision making. Where the infant has died, a follow-up appointment can facilitate grieving and help deal with unresolved issues. Through skilled counselling, the cardiologist in addition to his/her diagnostic and management skills, may meaningfully influence the ongoing care of the infant. They may help avoid the development of unrealistic fears or an over-optimistic outlook, thereby fostering the normal development of the child.

Adult↗
PubMed1996

Endothelium-dependent vasodilatation is not selectively impaired in patients with chronic heart failure secondary to valvular heart disease and congenital heart disease.

This study examined possible selective impairment of endothelial dysfunction in the peripheral vascular bed in patients with chronic heart failure in the absence of confounding factors influencing endothelial function (i.e. hypertension, hypercholesterolaemia and diabetes mellitus). Several recent studies have suggested that endothelium-dependent peripheral vasodilation is impaired but endothelium-independent vasodilation is preserved in patients with chronic heart failure. However, a classical paper has demonstrated that sodium nitrite-mediated calf blood flow is clearly depressed in patients with valvular heart disease and cardiomyopathy. We examined forearm blood flow changes mediated by acetylcholine and nitroprusside in patients with valvular heart disease (n = 55) or congenital heart disease (n = 13), and a comparison was made with healthy volunteers (n = 21). The blood flow changes mediated by acetylcholine and nitroprusside were significantly impaired in both patient groups (P < 0.01). When blood flow responses were collected from all patients, two types of vasodilatory capacity were found to have decreased significantly with increasing clinical severity of heart failure (New York Heart Association functional class; P < 0.01). This suggests that the peripheral vasodilatory responses mediated by endothelium-dependent and endothelium-independent vasodilators are significantly impaired in patients with symptomatic chronic heart failure due to non-ischaemic heart disease.

Acetylcholine↗
PubMed2005

Bronchial compression due to stent placement in pulmonary artery in a child with congenital heart disease.

Congenital heart disease, such as transposition of the great vessels (TGV), requires surgical procedures which can lead to important complications. We report on a case of bronchial obstruction following placement of a pulmonary artery stent in a 4-year-old boy who had undergone a Rastelli procedure to correct TGV, ventricular septal defect and pulmonary stenosis. There are many complications that can arise as a consequence of intravascular stents in heart surgery, as well as many causes of bronchial compression. However we have not found any report which describes bronchial compression as a direct consequence of endovascular stent.

Bronchial Diseases↗
PubMed2004

Evaluation of spleen in children with heterotaxia and congenital heart disease.

Congenital heart disease (CHD) affects 8 to 10 children out of every 1,000 live births. Of these, 2.2% have an abnormality associated with the spleen. Many previous studies have associated CHD and asplenia or polysplenia syndrome. We report a case of a 12-year-old girl with complex CHD who was noted to have Howell-Jolly bodies on her peripheral blood smear at birth, but disappeared at 2 months of age and radiographic evidence of splenic tissue with situs inversus. Unfortunately, she presented with overwhelming sepsis at 20 months of age. In this paper, we discuss multiple tests available for evaluating splenic function in children with CHD and heterotaxia. Hepatoiminodiacetic acid (HIDA) scan in conjunction with radiocolloid scan is the best available choice today to document the presence or absence of a functional spleen in children with heterotaxia and CHD.

Child↗
PubMed2006

Transplantation for adults with congenital heart disease.

Heart transplantation is a recognised treatment for end-stage heart failure of any cause including congenital heart disease. Congenital heart disease has contributed relatively little to the adult heart transplant activities in the past two decades. However, this is likely to change as an increasing number of children with congenital heart disease reach adulthood because of the advances in paediatric cardiology and surgery. Some of these grown-ups with congenital heart disease (GUCH patients) will need transplantation for late myocardial dysfunction either secondary to uncorrected lesions, or despite previous repair or palliative surgery. These patients are managed along the same clinical principles as those with cardiac failure of other aetiologies, despite the lack of any evidence to support this approach. Nevertheless, they introduce new challenges. First, some may have pulmonary vascular disease and require heart-lung transplantation, or lung transplantation combined with repair of their cardiac defects. Second, those with failing Fontan circulation are usually much sicker than other transplant candidates, with protein-losing enteropathy along with renal and hepatic dysfunction. Third, a suitable donor organ may not be found due to elevated levels of antibodies in response to previous blood transfusions and possibly the previous implantation of homografts. Fourth, the operation may be technically difficult because of the presence of adhesions secondary to previous operations, collaterals, and unusual anatomy. Fifth, postoperative care may be complicated because of predisposition to bleeding, infection and pulmonary hypertension, and the presence of residual aortopulmonary collaterals resulting in a significant left-to-right shunt. Despite a higher early mortality, the overall results of heart transplantation so far have been encouraging with survivals similar to that of adults with acquired heart disease and that of the paediatric population. However, this may change as the proportion of high-risk patients (failing Fontans) increases. GUCH patients with Eisenmenger's syndrome may be offered lung transplantation with repair of the cardiac defect or heart-lung transplantation. However, because of the limited success of these approaches, and improved management of pulmonary hypertension, patient selection remains difficult.

Adult↗
PubMed1986

The association of congenital ptosis and congenital heart disease.

Congenital ptosis and congenital heart disease are known to occur simultaneously in the presence of several well-recognized clinical syndromes. We report seven cases of documented, structural congenital heart defects found among 156 consecutive congenital ptosis patients operated at the Wills Eye Hospital. The possibility that the concurrence found in the patients was a manifestation of a dysmorphic syndrome was carefully excluded by observers skilled in the recognition of such anomalies. The observed rate of congenital heart disease, in otherwise normal congenital ptosis patients, was five times the expected rate in the pediatric population at large. This should alert ophthalmologists examining pediatric ptosis patients to the possibility of a coexisting structural heart defect.

Adolescent↗