Does First-Trimester Screening Modify the Natural History of Congenital Heart Disease? Analysis of Outcome of Regional Cardiac Screening at 2 Different Time Periods.

BACKGROUND: The study analyzed the impact of first-trimester screening on the spectrum of congenital heart defects (CHDs) later in pregnancy and on the outcome of fetuses and children born alive with a CHD. METHODS: The spectrum of CHDs, associated comorbidities, and outcome of fetuses, either diagnosed with a CHD in the first trimester (Group I, 127 fetuses) or only in the second-trimester screening (Group II, 344 fetuses), were analyzed retrospectively between 2007 and 2013. Second-trimester fetuses diagnosed with a CHD between 2007 and 2013 were also compared with Group III (532 fetuses diagnosed with a CHD in the second trimester from 1996 to 2001, the period before first-trimester screening was introduced). RESULTS: The spectrum of CHDs diagnosed in the first and second trimesters in the same time period differed significantly, with a greater number of comorbidities (P<0.0001), CHDs with univentricular outcome (P<0.0001), intrauterine deaths (P=0.01), and terminations of pregnancy (P<0.0001) in Group I compared with Group II. In Group III, significantly more cases of CHDs with univentricular outcome (P<0.0001), intrauterine demise (P=0.036), and early termination (P<0.0001) were identified compared with fetuses diagnosed with CHDs in the second trimester between 2007 and 2013. The spectrum of CHDs seen in the second-trimester groups differed after first-trimester screening was implemented. CONCLUSIONS: First-trimester screening had a significant impact on the spectrum of CHDs and the outcomes of pregnancies with CHDs diagnosed in the second trimester. Early detection of severe forms of CHDs and significant comorbidities resulted in an increased pregnancy termination rate in the first trimester.

Long-term (up to 20 years) results of percutaneous balloon angioplasty of recurrent aortic coarctation without use of stents.

AIMS: To assess the efficacy, safety, and long-term results of the balloon angioplasty of recoarctation. METHODS AND RESULTS: The angioplasty was performed in 99 consecutive patients aged 36 days to 32.6 years (median 268 days). Recoarctation to descending aorta diameter ratio increased from 0.44 (0.35/0.50) to 0.66 (0.57/0.77), P < 0.001. Systolic gradient was reduced from 34.0 (26.0/44.75) to 15.0 (8.25/27.0) mmHg, P < 0.001. In seven patients (7.1%) the procedure was ineffective. One patient (1%) with heart failure died within 24 h after a successful angioplasty and in another (1%) an intimal abruption necessitated surgical revision. The follow-up ranged up to 20.7 years (median 8.1 years). Actuarial probability of survival 20.7 years after the procedure was 0.91, and of reintervention-free survival was 0.44. Older age at the angioplasty was associated with a higher incidence of reinterventions (hazard ratio 1.057; 95% confidence interval 1.012-1.103; P = 0.010). The type of surgery and the recoarctation anatomy did not influence the outcome. In 69 patients aneurysm formation was studied by high-sensitive methods with only one positive finding per 462 patient-years. CONCLUSION: Angioplasty is safe and effective regardless of the type of surgery used and the recoarctation anatomy. Older age at the angioplasty is associated with a higher incidence of reinterventions.

Flecainide versus digoxin for fetal supraventricular tachycardia: Comparison of two drug treatment protocols.

BACKGROUND: The optimal treatment for fetal supraventricular tachycardia (SVT) with 1:1 atrioventricular relationship is unclear. OBJECTIVE: We compared the effectiveness of transplacental treatment protocols used in 2 centers. METHODS: Pharmacologic treatment was used in 84 fetuses. Maternal oral flecainide was the primary therapy in center 1 (n = 34) and intravenous maternal digoxin in center 2 (n = 50). SVT mechanism was classified by mechanical ventriculoatrial (VA) time intervals as short VA or long VA. Treatment success was defined as conversion to sinus rhythm (SR), or rate control, defined as >15% rate reduction. RESULTS: Short VA interval occurred in 67 fetuses (80%) and long VA in 17 (20%). Hydrops was present 28 of 84 (33%). For short VA SVT, conversion to SR was 29 of 42 (69%) for digoxin and 24 of 25 (96%) for flecainide (P = .01). For long VA SVT, conversion to SR and rate control was 4 of 8 (50%) and 0 of 8, respectively, for digoxin, and 6 of 9 (67%) and 2 of 9 (cumulative 89%) for flecainide (P = .13). In nonhydropic fetuses, digoxin was successful in 23 of 29 (79%) and flecainide in 26 of 27 (96%) (P = .10). In hydrops, digoxin was successful in 8 of 21 (38%), flecainide alone in 6 of 7 (86%, P = .07 vs digoxin), and flecainide ± amiodarone in 7 of 7 (100%) (P = .01). Intrauterine or neonatal death occurred in 9 of 21 hydropic fetuses treated with digoxin (43%), compared to 0 of 7 (P = .06) treated with flecainide. CONCLUSIONS: Flecainide was more effective than digoxin, especially when hydrops was present. No adverse fetal outcomes were attributed to flecainide.

Repair of persistent truncus arteriosus with interrupted aortic arch.

OBJECTIVE: The aim of our study was to analyse experience with repair of truncus arteriosus with interrupted aortic arch. METHODS: Between 1993 and 2004, eight consecutive patients underwent repair of truncus arteriosus with interrupted aortic arch. The median age was 6.5 days (range 1-85 days) and median weight was 3.2 kg (range 2.6-4.8 kg). Five patients had type A and 3 patients had type B aortic arch interruption. The repair was performed in deep hypothermia with circulatory arrest in 4 patients and isolated selective low-flow perfusion of the head and the heart in the last 4 patients. The repair consisted in aortic arch reconstruction by direct anastomosis between descending and ascending aorta, closure of ventricular septal defect and reconstruction of the right ventricular to pulmonary artery continuity using a valved conduit. RESULTS: One (12.5%) patient died from sepsis and hepato-renal failure 18 days after surgery. Seven (87.5%) patients were followed up for 2.0-11.7 years (median 2.6 years). No patient died after the discharge from hospital. In 4 patients 1-3 reinterventions were required 0.6-10.0 years after repair. Reoperations were performed for conduit obstruction in 2 patients, aortic regurgitation in 2 patients, right pulmonary artery stenosis in 2 patients and airway obstruction in 1 patient. In 2 patients concommitant aortic valve and conduit replacement was required. Balloon angioplasty for aortic arch obstruction was necessary in 1 patient, and for bilateral pulmonary branch stenosis in 1 patient. Five (28.6%) surviving patients are in NYHA class I and 2 (71.4%) patients are in NYHA class II. CONCLUSIONS: Primary repair of persistent truncus arteriosus with interrupted aortic arch can be done with low mortality and good mid-term results. Aortic arch reconstruction in isolated low-flow perfusion of the head and the heart influences favourably the postoperative recovery. The main postoperative problems are associated with conduit obstruction and aortic insufficiency.

Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience.

OBJECTIVE: To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. DESIGN AND SETTING: A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. PATIENTS AND RESULTS: In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. CONCLUSION: The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

Long-term results after correction of persistent truncus arteriosus in 83 patients.

OBJECTIVE: This study aims to analyse long-term results after correction of truncus arteriosus in all patients operated in one institution over 28 years. METHODS: Between 1981 and 2009, 83 patients, median age 54 days, underwent repair of truncus arteriosus. Interrupted aortic arch was present in 14 (17%), severe truncal valve insufficiency in 10 (12%) and non-confluent pulmonary arteries in five (6%) patients. Repair with reconstruction of the right ventricular to pulmonary artery continuity was performed using a valved conduit in 80, and other methods in three patients. At the same time, correction of interrupted aortic arch was done in 14 and truncal valve repair in eight patients. Survivors were repeatedly examined echocardiographically for assessment of residual heart lesions. RESULTS: The early mortality was 19 (23%). Out of 35 patients operated between 1981 and 1996, 17 (46%) died, and out of 48 patients operated between 1997 and 2009, two (4%) died. Operation before 1997 (p=0.001) and aortic cross-clamping time >90min (p=0.009) were found to be risk factors of death. Eight (10%) patients died late, a median of 68 days after surgery. Fifty-seven (69%) patients were followed for 10.9 + or - 6.7 years. Three (4%) patients were lost. Twenty-five (30%) patients are alive with their original conduit 7.5 + or - 5.2 years after correction. Twenty-eight patients required 41 re-operations for conduit dysfunction with first replacement at mean 5.8 + or - 4.1 (range 0.1-14.1 years) years after correction. Nine (11%) patients required 12 truncal valve replacements. Eleven (13%) patients required balloon dilatation or stent for conduit obstruction, pulmonary branch stenosis, aortic arch obstruction or stenosis of vena cava. Recent clinical examination was undertaken in 53 (64%) patients and 49 (59% or 77% of early survivors) are in good/very good condition. CONCLUSIONS: Truncus arteriosus remains a challenging heart disease. With growing experience, the early mortality decreased to 4%, but numerous re-interventions for conduit obstruction, pulmonary branch stenosis and truncal valve insufficiency are required. Surgery before 1997 and prolonged cross-clamping were risk factors of death. Pulmonary homografts had the best re-intervention-free survival. Statistically, however, the difference between conduits was not significant. Dysplastic valve and truncal valve insufficiency represent risk factors presenting the need for truncal valve replacement.

Prenatal diagnosis and management of fetal Long QT syndrome.

This report describes a fetus presenting with second-degree atrioventricular block, sinus bradycardia, and transient ventricular tachycardia with ventriculoatrial dissociation. Long QT syndrome (LQTS) was suspected due to the association of heart rhythm disturbances and very short transmitral early deceleration time. This impaired relaxation of the left ventricle was explained by the extreme prolongation of the refractory period caused by the prolonged relaxation time. The infant was treated successfully with beta-blockers and implantation of a pacemaker. The prognosis is poor when LQTS presents utero or during the first week of life. To date, only a few case reports of a fetus with LQTS have been published.

Characteristics of Doppler myocardial echocardiography in patients with tricuspid atresia after total cavopulmonary connection with preserved systolic ventricular function.

BACKGROUND: Doppler myocardial echocardiography (DME) may be an excellent additional means of assessing determinants of systolic and diastolic ventricular function in patients with tricuspid atresia (TA) after total cavopulmonary connection (TCPC). METHODS AND RESULTS: Thirty-three patients with TA and normal systolic shortening/ejection fraction (M-mode) after TCPC were studied by DME at a median age of 7.6 years (range 1.5-17 years). These results were compared to 16 age matched normal controls. Median time under a cavopulmonary shunt was 5.2 years (range 0.6-13.3 years). Isovolumic acceleration and isovolumic velocity did not differ significantly. All other systolic (S-wave acceleration-velocity and S-wave duration) and diastolic DME indices (E-deceleration-velocity, A-velocity and E/A ratio) were significantly lower in TCPC patients in comparison to normals (p<0.0001). Furthermore, isovolumic relaxation time (IRT) was significantly prolonged in the patient group (p<0.0001). Even though there was a significant correlation between the time of volume unloading and left ventricular end-diastolic diameter, exclusion of all patients with short period of volume unloading and relatively large systemic ventricles did not alter the results. CONCLUSIONS: Patients with TA after TCPC and normal shortening and ejection fraction have normal isovolumic acceleration. Load dependent DME indices of systolic and diastolic function, however, were significantly reduced. These findings suggest that the described DME indices mirror the "normal" hemodynamics after TCPC in patients with TA. It needs to be assessed, whether this is an index of adverse prognosis in long-term surveillance of these patients.

Corrective surgery of congenital heart defects in neonates: the Prague experience.

AIM: To assess the outcome and mortality trend in newborns undergoing corrective surgery for congenital heart defect. METHOD: We reviewed the hospital records of 1,033 neonates under 30 days of life, who had congenital heart defects operated on at the Kardiocentrum, Motol University Hospital in Prague, Czech Republic, during 1977-2001. Early and late mortality and reoperation rates were analyzed. RESULTS: A total of 1,156 operations were performed in 1,033 neonates. Obstructive lesions were surgically treated in 56%, left-to-right shunts in 21%, and complex conotruncal lesions in 23% of the cases. Total correction has been achieved in 62% of the neonates. Most operations (75%) were performed in the first two weeks of neonate s life. Early 30-day hospital mortality was 13%. Late mortality, after the discharge from the hospital, was 10%. In the last three years, the hospital mortality rate decreased to about 2%. Out of 590 reinterventions in 379 neonates, with the mortality of 6%, 229 were secondary staged corrections and 190 further palliative procedures aimed mostly toward Fontan or Rastelli type of circulation. Residual or recurrent defects were solved in 62 neonates. There were 30 valve replacements, with 18 mechanical valves and 12 pulmonary valve autotransplantations (the Ross procedure). The homograft valved conduit was used in 38 children. CONCLUSION: Most newborns with critical congenital heart defects can undergo corrective operation under acceptable risk. Due to complex improvements in perioperative, anaesthetic, surgical, and postoperative care, contemporary hospital mortality can be reduced to 1-3%. Palliative procedures still play an important role in the staged treatment of severe complex heart defects in neonates.