The benefits of transplacental treatment of isolated congenital complete heart block associated with maternal anti-Ro/SSA antibodies: a review.

Isolated congenital complete atrio-ventricular block (CAVB) is associated with the transplacental passage of maternal autoantibodies directed to foetal Ro/SSA ribonucleoproteins. Their interactions most likely trigger the inflammation of the atrio-ventricular node and the myocardium in susceptible foetuses. The inflamed tissues may then heal with fibrosis that may cause heart block, endocardial fibroelastosis, and dilated cardiomyopathy. CAVB, the most common cardiac complication, typically develops between 18 and 24 gestational weeks. Untreated, the condition carries a significant mortality risk as the foetus needs to overcome the sudden drop in ventricular rate, the loss of normal atrial systolic contribution to ventricular filling, and perhaps concomitant myocardial inflammation and fibrosis. The rationale to treat a foetus at the stage of CAVB is primarily to mitigate myocardial inflammation and to augment foetal cardiac output. Maternal dexamethasone administration has been shown to improve incomplete foetal AV block, myocardial dysfunction, and cavity effusions. Beta-sympathomimetics may be useful to increase the foetal heart rate and myocardial contractility. Published data from our institution suggest an improved survival >90% if maternal high-dose dexamethasone was initiated at the time of CAVB detection and maintained during the pregnancy and if a beta-adrenergic drug was added at foetal heart rates below 55 beats/min. Despite the improvement in outcome, there is an ongoing debate about treatment-related risks. In this review, we will appraise the natural history of untreated CAVB, discuss currently available management options, and examine the results and risks of in-utero treatment of antibody-mediated CAVB.

Outcomes of prenatally diagnosed tetralogy of Fallot: Implications for valve-sparing repair versus transannular patch.

OBJECTIVES: To assess outcomes of prenatally diagnosed tetralogy of Fallot and determine factors associated with the choice to undergo a valvesparing repair versus transannular patch, and the use of prostaglandins at birth. METHODS: All cases at The Hospital for Sick Children (Toronto, Ontario) with a fetal diagnosis of tetralogy of Fallot from 1998 to 2006, were reviewed for demographic and fetal echocardiographic data to determine factors associated with the valve-sparing repair and need for perinatal support. RESULTS: Sixty-four fetuses met inclusion criteria (median gestational age 22 weeks) with 47 live births. Twenty-six underwent valve-sparing repair (median age 5.7 months) and 14 underwent transannular patch repair (median age 4.5 months). There were seven deaths before surgery and one post-transannular patch repair. One patient required a transannular patch repair after the initial valve-sparing repair. Twelve of 29 (41%) patients received prostaglandins at birth. Type of surgical repair, use of prostaglandins and postnatal death were among the outcomes investigated. The mean pulmonary valve (PV) z-score was -3.0+/-2.0 and the mean PV/aortic valve (AoV) ratio was 0.65+/-0.10. Lower PV z-score (P=0.04), smaller PV/AoV ratio (P=0.04) and the presence of nonantegrade arterial duct flow (P=0.02) were associated with prostaglandin use. A higher PV/AoV ratio was associated with valvesparing repair (P=0.04). Fetal z-scores of the PV, AoV and right pulmonary artery at 29 to 32 weeks gestational age correlated with respective postnatal z-scores (P=0.01). CONCLUSION: Fetal echocardiographic variables were associated with the use of prostaglandins and valve-sparing repair in fetuses with tetralogy of Fallot, and at 29 weeks, correlated with postnatal valve diameters.

Etiology and outcome of prenatally detected paracardial cystic lesions: a case series and review of the literature.

OBJECTIVES: Isolated paracardial cysts, defined as cystic structures adjacent to or originating from the heart, are rare and etiologically heterogeneous congenital abnormalities. The purpose of this study was to review our experience with prenatally diagnosed isolated cysts. METHODS: We reviewed retrospectively the medical charts and ultrasound records of all cases with an antenatal diagnosis of paracardial cyst at our institution between 2001 and 2006. Where applicable, the diagnosis was further substantiated by other imaging modalities and pathology. RESULTS: The cysts in six fetuses were diagnosed at a median gestation of 20 (range, 19-38) weeks. Three of these fetuses presented with a fluid-filled cyst attached to or within the pericardial space (pericardial cysts), which resolved spontaneously by the time of delivery. In contrast, the cysts did not change in size or shape in the remaining three fetuses. Postnatal examination of the persistent cysts revealed three different etiologies: (1) a microcystic lymphangioma, located in the anterior mediastinum; (2) an isolated neurenteric cyst; and (3) a single bronchogenic cyst, both within the posterior mediastinum. The lymphangioma and neurenteric cyst were removed surgically after birth. CONCLUSIONS: Fetal echocardiography enables early detection of paracardial cyst. Pericardial cysts disappeared spontaneously during the course of gestation without signs of fetal cardiac compromise, suggesting a benign prognosis. Imaging by magnetic resonance and computerized tomography were particularly useful to clarify the etiology, structure and extent of those cysts that had not resolved by the time of birth. Published by John Wiley & Sons, Ltd.

Assessment of fetal atrioventricular time intervals by tissue Doppler and pulse Doppler echocardiography: normal values and correlation with fetal electrocardiography.

OBJECTIVE: To establish gestational age-specific reference values of normal fetal atrioventricular (AV) time interval by spectral tissue Doppler imaging (TDI) and pulse-wave Doppler (PD) methods, and to assess their correlation with signal-averaged fetal PR intervals (ECG). DESIGN: Cohort study. SETTING: Tertiary centre for fetal cardiology. PATIENTS AND MEASURES: 131 pregnant women between 14 and 42 weeks' gestation underwent 196 fetal echocardiograms and 158 fetal ECG studies. TDI-derived AV intervals were measured as the intervals from atrial contraction (Aa) to isovolumic contraction (IV) and from Aa to ventricular systole (Sa) at the right ventricular free wall. PD-derived AV intervals were measured from simultaneous left ventricular inflow/outflow (in/out) and superior vena cava/aorta (V/AO) recordings. RESULTS: Measurements were possible by ECG in 61%, by TDI in 100%, by in/out in 100% and by V/AO in 97% of examinations. Aa-IV correlated significantly better with PR intervals (y = 0.67x + 38.29, R(2) = 0.15, p < 0.0001, mean bias 8.0 ms) than did in/out (R(2) = 0.10, p = 0.002, bias 18.7 ms) and V/AO (R(2) = 0.06, p = 0.02, bias 12.4 ms). Gestational age and AV intervals were positively correlated with all imaging modalities (R(2) = 0.19-0.31, p < 0.0001). CONCLUSION: This study showed the feasibility of fetal AV interval measurements by TDI, and established gestational age-specific reference data. TDI-derived Aa-IV intervals track ECG PR intervals more closely than PD-derived AV intervals and thus should be used as the ultrasound method of choice in assessing fetal AV conduction.

Increase of fungal endocarditis in children.

BACKGROUND: Infective endocarditis (IE) is a rare and feared infection that mainly occurs in patients with underlying cardiac disease or altered function of the immune system. Recent epidemiological data on both sepsis and nosocomial infections indicate a rise in gram-negative bacterial and fungal infection, particularly in patients requiring critical care support. This study sought to characterize the change in the spectrum of IE encountered in a single pediatric tertiary care center during the last 18 years, to evaluate emergence of fungal IE and to identify contributing factors. PATIENTS AND METHODS: Review of all cases of IE diagnosed between January 1986 and August 2003 at a single university children's hospital. Patients were distributed between two equal time periods and compared according to the era of IE diagnosis. RESULTS: In 43 patients, 44 episodes of IE were identified with most cases occurring in children with congenital or acquired heart disease. The annual number of diagnosed cases fluctuated during the study (mean 2.4 cases/year). Blood or specimen cultures were positive in 34 cases (77%) with gram-positive organisms most frequently observed (n=20, 44.4%). Fungal IE cases (n=9, 20%) occurred preferentially during the second period (p<0.03), and were more common in children with noncardiac diseases (p=0.023). Factors associated with fungal IE were the use of broad-spectrum antibiotics (p<0.001) and the presence of an infected central venous catheter (p=0.01). Overall mortality did not differ between the two eras. CONCLUSION: The incidence of fungal IE seems to have significantly increased in more recent years. Use of broadspectrum antibiotics for prolonged time or/and central venous catheters were identified as predisposing factors to fungal infective endocarditis.

Prenatal diagnosis of complete atrioventricular block associated with structural heart disease: combined experience of two tertiary care centers and review of the literature.

OBJECTIVE: To review the pattern of presentation, management and outcome of fetal complete atrioventricular block (CAVB) associated with major structural congenital heart disease (CHD), when compared to isolated CAVB. METHODS: Retrospective analysis of the medical records and echocardiograms of all CAVB cases, diagnosed prenatally at two tertiary care centers between the years 1990 and 2002. RESULTS: Of a total of 59 consecutive fetal cases of CAVB, 24 (41%) had underlying major CHD, mainly left isomerism (n = 18) and congenitally corrected transposition of the great arteries (cc-TGA) (n = 3). When compared to isolated CAVB (n = 35), cases with CHD were detected earlier (21 +/- 6 vs. 26 +/- 6 weeks; P < 0.02) and-despite comparable heart rates-more often had fetal hydrops (38% vs. 9%; P < 0.02), while pregnancy continuation (66% vs. 94%; P < 0.02) or prenatal treatment (19% vs. 64%; P < 0.001) was less likely. Of 16 CHD cases with pregnancy continuation, beta-inotropic treatment of fetal bradycardia was attempted in three cases: all had left isomerism and died early postnatally. Livebirth and 1-year survival rates of CAVB with CHD were 56% and 19%, respectively, when compared to isolated CAVB with 88% and 75%, respectively (P < 0.0001). The four neonatal survivors (one left isomerism, three cc-TGA) had heart rates persistently > 60 bpm throughout gestation and 3/4 underwent a biventricular repair. CONCLUSIONS: Fetal CAVB with CHD continues to be associated with a poor outcome, in particular in the presence of left isomerism and fetal heart rates < 60 bpm.

Is immune-mediated complete fetal atrioventricular block reversible by transplacental dexamethasone therapy?

We report for the first time a fetal case with sustained regression from isolated complete to first-degree heart block on transplacental treatment with high-dose dexamethasone. Doppler echocardiography is an excellent diagnostic tool in the non-invasive assessment of fetal atrioventricular conduction and its anomalies.

Ex utero intrapartum treatment (EXIT) of severe fetal hydrothorax.

Ex utero intrapartum treatment (EXIT) of a fetus with severe bilateral hydrothorax is described. EXIT allows therapeutic interventions on the neonate while maintaining fetoplacental circulation. Thus it may be useful for fetuses presenting with severe pleural effusion towards the end of gestation and in whom in utero drainage is technically not possible or available and drainage post partum would result in profound and prolonged hypoxia until sufficient drainage of pleural fluid allowed lung expansion.

Transcatheter occlusion of the patent ductus arteriosus with a single device technique: comparison between the Cook detachable coil and the Rashkind umbrella device.

UNLABELLED: Transcatheter coil occlusion of the patent ductus arteriosus (PDA) has become the interventional treatment option of choice. Immediate occlusion of any residual shunting results in excellent closure rates, but frequently requires multiple coil deployment. AIMS: To assess the efficacy and limitations of single Cook detachable coil PDA closure compared to a preceding series of Rashkind umbrella procedures. METHODS AND RESULTS: Between 1990 and 1999, transcatheter occlusion of a small (<2 mm; n=45) or moderate-sized (2-4 mm; n=47) PDA was successfully attempted in 90/92 consecutive patients (mean age 6+/-4.8 years) with a coil (39/41) or Rashkind device (51/51). Immediate angiographic closure rates for both devices were low, although better for small (54-68%) than moderate ducts (7-22%, P<0.01). A 2-year echocardiographic closure rate of small ducts increased to 92% for the coil group versus 95% for the Rashkind group. By that time, moderate-sized ducts were only occluded in 64% with the coil and 54% with the Rashkind device. A visible residual shunt at post-implant angiography in moderate ducts was associated with a high incidence (59%) of long-term echocardiographic shunt patency and a need for repeat interventions for audible residual shunts (32%). CONCLUSIONS: Single coil transcatheter occlusion is the treatment of choice for the small duct as most residual shunts will resolve spontaneously. However, long-term shunt persistence after single coil deployment in moderate sized ducts is as frequent as with the Rashkind device. A primary multiple coil approach is advocated if the postcoil aortogram shows residual ductal shunting and if there is persistence of a ductal murmur on auscultation.

Comparative analysis of pattern, management and outcome of pre- versus postnatally diagnosed major congenital heart disease: a population-based study.

OBJECTIVES: Most pregnant women in New South Wales undergo obstetric ultrasound examination, including some assessment of fetal cardiac anatomy. We aimed to review the spectrum of cardiac defects, management and outcome data of all fetuses with diagnosis of major congenital heart disease between 1994 and 1996 and compare them to major congenital heart disease in infants born during the same 3-year study period. METHODS: Descriptive comprehensive study of the New South Wales population. Study centers included the single fetal echocardiographic referral service and the two pediatric cardiac centers of New South Wales. RESULTS: Ninety-seven fetuses and 562 infants with major congenital heart disease were identified (240,000 livebirths), resulting in a prenatal detection rate of 15%. Anomalies detectable by cardiac four-chamber views were diagnosed at an average rate of 30% (68/229) in utero. By contrast, lesions associated with abnormal ventricular outflow and great artery views were detected in only 6.7% (29/430; P < 0.0001) of cases prior to birth. Of the 97 fetuses, 29 were aborted, 16 died in utero, and 9 died early postnatally without treatment. Within 2 weeks of age, 23% with fetal and 40% (P < 0.05) with infant major congenital heart disease diagnosis required an intervention, mainly for patent ductus arteriosus dependent lesions. Postnatal survival was similar for the fetal and infant series up to 2 years of age: 77% (95% confidence interval 64-90%) vs. 85% (95% confidence interval 82-88%). CONCLUSIONS: Prenatal diagnosis has important implications for pregnancy outcome, in particular for univentricular lesions. However, the present mode of obstetric routine ultrasound scanning fails to identify most ductus arteriosus dependent cardiac lesions with a predictable need for early postnatal intervention.

Fetal cardiac performance in uncomplicated and well-controlled maternal type I diabetes.

OBJECTIVE: To study the impact of well-controlled, uncomplicated maternal diabetes on fetal cardiac development and performance. METHODS: The following variables were studied in 45 fetuses of type I diabetic women by means of mid- and late-trimester echocardiography: interventricular septal thickness; aortic and pulmonary valve diameters; peak and time-to-peak flow velocity of the great arteries; the ratio between peak velocities during early (E) and late (A) ventricular filling at the level of the atrioventricular values; ventricular fractional shortenings; and output. The findings were compared to age-matched control groups of normal fetuses. RESULTS: A significant augmentation of interventricular septal thickness was demonstrated for mid-trimester fetuses of diabetic women, which progressed further towards the end of pregnancy. However, the indices of diastolic and systolic function remained comparable between the gestational age-matched groups. CONCLUSION: Progressive myocardial thickening occurs commonly in mid- and late-trimester fetuses of uncomplicated and well-controlled diabetic pregnancies. The observed degree of hypertrophy is generally mild and does not affect age-related changes in fetal cardiac function.

[Update on the diagnosis and treatment of supraventricular tachycardia in children]. / Mise à jour du diagnostic et du traitement des tachycardies supra-ventriculaires de l'enfant.

Multiple advances in the understanding of arrhythmia mechanisms as well as the advent of new drugs and the radiofrequency catheter ablation have revolutionized the antiarrhythmic management in children. With the availability of these therapeutic options an improved knowledge of the treatment options, their indications and risks is required. Despite these improvements, supraventricular tachycardias remain an important and challenging problem, because of steadily growing numbers of children and adults presenting with complex supraventricular arrhythmias years after cardio-thoracic interventions.

[Fetal and genetic aspects of congenital heart disease]. / Pränatale und genetische Aspekte angeborener Herzerkrankungen.

Fetal cardiology includes the assessment of the fetal heart for congenital heart disease (CHD) and arrhythmias, the management of affected fetuses, including parental counselling for the therapeutic options, the planning of the delivery and the postnatal care. This requires a close collaboration between obstetricians, neonatologists and pediatric cardiologists. Because of restricted financial sources extensive fetal echocardiographic assessment is reserved for pregnancies with increased risk for CHD, which includes a family history of CHD, suspicion of a cardiac or extracardiac fetal abnormalities at obstetric routine ultrasonography, fetal arrhythmias and chromosomal anomalies. Since most CHD occur in pregnancies without increased risk an ultrasound screening of the fetal heart during routine pregnancy ultrasound is recommended. Most forms of CHD can potentially be detected in utero, especially the severe ones with considerable fetal and postnatal morbidity and mortality. The prenatal diagnosis of a major cardiac malformation requires further assessments for extracardiac and chromosomal disorders. The deliveries of patients with major cardiac anomalies in a tertiary obstetric center close to a pediatric cardiac facility allows optimal perinatal and postnatal management. This may be of crucial importance for cardiac malformations which are arterial duct dependent postnatally. Many CHD have genetic causes. Well established is the association of CHD and the trisomies 13, 18 and 21, as well as the monosomy XO (Turner syndrome). During the last years more and more molecular genetic causes for CHD could be demonstrated. The most significant one is the microdeletion 22q11 syndrome (CATCH 22 syndrome), which is associated with different conotruncal anomalies. Also for various other congenital cardiac malformations and syndromes a genetic cause could be demonstrated. The search for genetic cofactors is important as it affects parental counselling and patient care.

[Clinical presentation, diagnosis and management of inflammatory heart diseases in childhood]. / Klinik, Diagnose und Behandlung entzündlicher Herzkrankheiten im Kindesalter.

Inflammatory disorders which may affect the heart muscle, the endocardium, the pericardium and/or the coronary arteries are rare, but potentially devastating diseases. As the incidence of rheumatic heart disease has decreased, children with congenital heart disease now constitute the primary patient population at risk of infective endocarditis. Streptococcus viridans and Staphylococcus aureus are still the most frequently observed organisms. The majority of children with infective endocarditis can be cured today, but good results depend on early diagnosis and accurate treatment. Myocarditis occurs when the heart muscle is involved in an inflammatory process. Causes are numerous, but most common in children are infections with cocksackie viruses. Approximately two-thirds of children with symptomatic acute myocarditis show complete recovery of impaired ventricular function, 10-20% progress of dilatative cardiomyopathy and about 10% die or require heart transplantation. Kawasaki disease is the most prevalent inflammatory coronary artery disease and the leading cause of acquired heart disease in children. The origin of this acute systemic vasculitis remains unknown. Visible coronary arterial abnormalities develop in approximately 20% of children with untreated Kawasaki syndrome. A single dose of gamma-globulin (2 g/kg over 12 h) given within the first 10 days of onset of illness as early as possible, in addition to aspirin has been shown to reduce the duration of fever, which may reflect the severity of ongoing vasculitis, and to reduce the prevalence of coronary artery anomalies.

Myocardial perfusion defects and associated systemic ventricular dysfunction in congenitally corrected transposition of the great arteries.

BACKGROUND: Patients with systemic ventricles of right ventricular morphology are at high risk of contractile dysfunction, the cause of which has not been fully elucidated. OBJECTIVE: To assess whether ischaemia or infarction contributes to ventricular impairment in unoperated patients with uncomplicated congenitally corrected transposition of the great arteries (TGA) by studying myocardial perfusion and function. SETTING: Paediatric and adult congenital cardiac clinics of a tertiary referral centre. PATIENTS: Five patients with congenitally corrected TGA but without associated structural cardiac defects (aged 3.5 to 34 years). INTERVENTIONS: Maximal exercise stress testing using standard or modified Bruce protocols. Sestamibi (technetium-99m methoxy isobutyl isonitrile) scanning after isotope injection at maximal exercise and rest. MAIN OUTCOME MEASURES: Maximum exercise capacity; right ventricular myocardial perfusion, regional wall motion, and thickening; right ventricular ejection fraction. RESULTS: The two youngest patients (3.5 and 11 years) had normal exercise capacity for age, while the others had reduced exercise performance. Sestamibi scanning showed reversible myocardial ischaemia in four patients and fixed defects indicating infarction in five. Irreversible defects were mostly associated with impaired wall motion and thickening. The ejection fraction was normal (65%) in the youngest patient but < 55% in the others (mean (SD) 47(11)%). CONCLUSIONS: Patients with unoperated congenitally corrected TGA have a high prevalence of myocardial perfusion defects, with consequent abnormalities of regional wall motion and thickening, and impaired ventricular contractility. These data suggest that ischaemia and infarction are important in the pathogenesis of ventricular failure in this condition.