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A 20-year-old woman with complex cyanotic congenital heart disease, including severe congenital mitral stenosis and intact atrial septum, who developed a left atrial ball thrombus and an embolic phenomenon, is presented. Increased vigilance in this unique setting is necessary for the antemortem detection of this rare complication.
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This study demonstrated the diagnostic usefulness of the newly-developed real-time two-dimensional Doppler echocardiography (2-D Doppler) in congenital heart disease. Among fifty-four patients with congenital heart disease, 18 had ASD; 16, VSD; 6, T/F; 3, PDA; 3, d-TGA; 3, ECD; and 1 each, DORV, PA, PS, Ebstein's anomaly, and ruptured aneurysm of the sinus of Valsalva. Each diagnosis was confirmed by cardiac catheterization and/or surgery. Forty normal cases were subjected as the control. The study cases included 26 adults and 28 children under 15 years old, 13 infants and seven newborns. In 52 cases (96.3%) 2-D Doppler provided diagnostic abnormal intracardiac blood flow images which were compatible with the data of cardiac catheterization and cardiac angiography and/or patients' cardiac anatomy observed during surgery. The blood flow data obtained by 2-D Doppler facilitated determining the appropriate timing of palliative surgery such as the Blalock-Taussig shunt procedure. 2-D Doppler was effective in evaluating medical (pharmaco-echocardiography) and surgical therapy including radical and palliative procedures for congenital heart disease. Thus, 2-D Doppler proved a non-invasive and useful diagnostic method for congenital heart heart disease. Our data suggest that with this technique cardiac surgery can be performed without cardiac catheterization or cardiac angiography in some cases of congenital heart disease.
Congenital cardiopathies currently represent the majority of cardiac anomalies observed during pregnancy. The latter leads to significant haemodynamic modifications which can sometimes be poorly tolerated in the case of severe cardiopathy. However, as a rule pregnancy is generally well supported if the functional state of the patient beforehand is satisfactory (class I or II of the NYHA). The type of cardiopathy also plays a role. Left-right shunts tolerate pregnancy well in most cases. On the other hand severe aortic stenoses expose serious complications. Above all it is the cyanogenic cardiopathies which are poorly tolerated by the mother and the fetus, and more so the lower the oxygen saturation. Eisenmenger's syndrome causes a major risk to life for the young mother and is a formal contra-indication to pregnancy, as is pulmonary arterial hypertension. Patients with a Fontan anastomosis or an intra-atrial repair of transposition of the great vessels can support pregnancy very well if the systemic ventricle has good function. In Marfan's syndrome the aortic diameter is the essential prognostic element. In most congenital cardiopathies pregnancy nevertheless has a favourable outcome for the mother and infant. Vaginal delivery should be the rule. A close cardio-obstetric collaboration is the principal condition to allow the young cardiac female to well endure a pregnancy.
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OBJECTIVE: The purpose of this study was to determine whether maternal Lyme disease increases the risk of congenital heart defect. STUDY DESIGN: This retrospective case-control study was carried out at a medical center in a suburban area where Lyme disease is endemic. Case patients comprised 796 children with a diagnosis of congenital cardiac anomaly. Control subjects comprised 704 children without cardiac defects selected from the records of the same pediatric cardiology service. Maternal histories were obtained through a mailed questionnaire survey. Unconditional logistic regression analyses examined the relationship between a history of preconception and prenatal clinical Lyme disease or tick bite and case or control status. RESULTS: There was no association between congenital heart defect and maternal tick bite (adjusted odds ratio 1.1, 95% confidence interval 0.5-2.5) or maternal Lyme disease within 3 months of conception or during pregnancy (adjusted odds ratio 0.9; 95% confidence interval 0.2-3.6). CONCLUSION: A woman who has been bitten by a tick or is treated for Lyme disease during or before pregnancy is not at increased risk for giving birth to a child with a congenital heart defect.
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Adults with congenital heart disease represent a new and growing population of patients who pose a challenge to both medicine and nursing. The purpose of this study was to identify the educational needs of adults with congenital heart disease. The study used a prospective, cross-sectional, case-control study design and enrolled 124 adults with congenital heart disease and 124 matched healthy controls. Adults with congenital heart disease were more likely to report living at home with parents and less likely to be employed compared with healthy controls. When those adults with acyanotic and cyanotic congenital heart disease were compared, acyanotic adults were twice as likely to be employed. Additionally, several areas of educational needs were identified in this study for adults with congenital heart disease.
Advances in congenital heart surgery have resulted in the increased survival of infants born with complex congenital heart disease. Questions remain, however, about how these patients will develop and whether they will have normal, productive lives. To date, studies have shown that although the vast majority of children with congenital heart disease have normal outcomes, as a group they generally have higher rates of neurodevelopmental problems. The developmental sequelae include mild problems in cognition, attention, and neuromotor functioning. The etiology of neurologic deficits in this population appears to be multifactorial with preoperative, operative, and postoperative factors all contributing to outcome. Continued research and attempts to minimize neurologic injury and associated sequelae are of primary importance. Recent data suggest that advances in care already may be improving outcome after congenital heart surgery. Ongoing documentation of the long-term outcome in this population needs to be mandated, as does the implementation of environmental enrichment programs to help ameliorate the long-term consequences of congenital heart disease.
BACKGROUND: Cyanotic congenital heart diseases usually lead to growth and developmental delay in children due to chronic hypoxemia and undernourishment that may affect the central nervous system. The auditory brainstem responses are determined to assess the maturation and function of the brainstem. Therefore, we used the auditory brainstem responses to investigate the effect of cyanotic congenital heart diseases on brainstem maturation. METHODS: The auditory brainstem responses were investigated in 45 children (23 cyanotic, 22 acyanotic) with congenital heart diseases and compared with the results of 30 healthy counterparts (all children were aged between 2 months and 15 years). RESULTS: The results of auditory brainstem responses were similar in acyanotic patients and in normal children. The cyanotic patients under 1 year of age had more prolonged I-V interpeak latencies than those of control and acyanotic patients (P < 0.05). There was no difference between all groups older than 1 year of age. In cyanotic children, I-V interpeak latencies showed significant negative correlation with arterial oxygen saturation and partial oxygen pressure (P < 0.05). CONCLUSIONS: Cyanotic congenital heart diseases may cause significant retardation on brainstem maturation due to chronic hypoxemia, especially in infants under 1 year of age, whereas acyanotic congenital heart diseases have no effect on auditory brainstem responses.
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Congenital heart disease is now more prevalent than acquired in pregnancy in the developed world. In pregnancy the fall in systemic vascular resistance and increase in blood volume and cardiac output can cause functional deterioration in certain conditions. A minimally symptomatic woman with good ventricular function, normal oxygen saturation, and no left heart obstruction should tolerate pregnancy well. Women with pulmonary hypertension or dilated aortic root (pre-replacement) should be counselled against pregnancy and given appropriate contraceptive advice. The optimum management of a pregnant woman with a metallic prosthetic valve remains to be determined.
Most congenital heart defects are potentially detectable during fetal life. Detailed fetal echocardiography is indicated for high-risk pregnancies, and can now be offered at an earlier stage in gestation than was previously possible.
Certain congenital heart defects, which present at birth as complex morphologic defects, are actually the result of a relatively simple primary lesion and the subsequent acquired development of a complex secondary lesion during gestation. Moreover, fetal heart approach during gestation can prevent simple cardiac lesions from such development. Specific structural lesions can be diagnosed before 12 weeks of gestation by transvaginal fetal echocardiography, and animal experiments have shown that direct or indirect fetal cardiac approach and fetal cardiac bypass are technically feasible. A number of fetal bypass models have resulted in long-term survivors, with for example, the delivery of normal lambs at full-term gestation. Also, successful full-term delivery has been obtained after fetal cardiac intervention. The success of fetal cardiac bypass was accomplished by the use of total spinal anesthesia and the administration of indomethacin. Moreover, a 42 % long-term survival after fetal cardiopulmonary bypass in a fetal lamb model has been reported. Maternal risk related to fetal bypass should be considered carefully alongside fetal risks and benefits. Most fetal malformations do not directly threaten maternal health, yet the procedures required to address fetal malformations can produce significant maternal risk and discomfort and subsequent pregnancies may be jeopardized. Further investigation of maternal outcome is required. Deep exploration of fetal and maternal pathophysiologic responses to intervention and comprehensive investigation is required to overcome current limitations, and should precede clinical trials as many problems remain to be solved before these techniques can be applied to human beings.
Many congenital heart conditions that were previously considered to be inoperable are now able to be corrected surgically. As a result, a more accurate and refined "surgical diagnosis" than that offered by conventional angiography has been sought. Axial cineangiography is invaluable in establishing a specific diagnosis in such cases.
Congenital malformations of the heart are the most common of all birth defects. Traditionally, a multifactorial model combining genetic predisposition with environmental influence has been cited as the cause of greater than 90% of heart disease. This may be too broad inasmuch as linkage analysis combined with the explosion of information derived from the Human Genome Project has allowed the identification of genetic defects for many types of acquired and congenital diseases of the heart. This review provides a summary of cardiac conditions for which genetic etiologies are apparent, as well as an introduction to some basic clinical genetic concepts. Despite significant advances, it is important to remember that we are still very early in our understanding of the relationship of genotype to phenotype and that the clinical implications of the genetic defects identified are incompletely understood and have only begun to be studied.