Pulmonary balloon valvuloplasty in a fetus with critical pulmonary stenosis/atresia with intact ventricular septum and heart failure

Outcome of fetuses with critical pulmonary stenosis (critical PS) or atresia of the pulmonary valve (PA) with intact ventricular septum (IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics. Fetal echocardiography not only allows early detection of this condition but also monitors its normally unfavorable evolution. These cases may benefit from intrauterine intervention relieving outflow tract obstruction in order to achieve a biventricular circulation. Successful valvuloplasty of the pulmonary valve was performed in a fetus with critical PS-IVS and heart failure at 25 weeks. After the procedure there was a significant improvement in fetal hemodynamics. Follow-up scans at 34 weeks detected a significant restenosis with signs of circulatory failure leading to premature delivery of the baby. An immediate postnatal valvuloplasty successfully completed the ultimate objective of biventricular repair. Fetal pulmonary valvuloplasty is feasible and may change the natural history of the disease in fetuses with critical PS-IVS.     

Fetal surgery for cardiac lesions

Intrauterine dilation of critical fetal aortic stenosis (AS) and pulmonary stenosis or atresia has the potential to change the natural course of these congenital heart defects preventing progression to a single ventricle circulation. This article reviews the world experience in fetal cardiac interventions. In carefully selected cases, fetal cardiac surgery can reverse end-stage heart failure and can provide biventricular outcome postnatally in about two thirds of the cases with successful interventions.     

Impact of prenatal diagnosis on outcome of pulmonary atresia and intact ventricular septum

Objectives: To determine the impact of fetal echocardiography on the management of pregnancy and of newborns affected by pulmonary atresia and intact ventricular septum (PAIVS) and to evaluate the outcome of infants with and without prenatal diagnosis of PAIVS. Methods: We searched our database for cases of PAIVS prenatally and postnatally diagnosed during the period January 1993–December 2009. Postnatal follow-up was available in all cases included in the study. Karyotyping and fluorescent in situ hybridization analysis for the DiGeorge critical region (22q11.2) were performed in all but one case. Results: The study comprised 60 cases of PAIVS: 36 with (Group A) and 24 without (Group B) prenatal diagnosis. In Group A, there were two intrauterine deaths, six postnatal deaths (five early after birth) and one termination of pregnancy. In this group, radiofrequency (RF) perforation was successfully performed in 25 cases; 20/25 infants had a biventricular (BV) repair, without further operation in 13 of them. No patient of Group B died. In this group, RF perforation was successfully performed in 22 cases; 20/22 had a BV repair without further procedure in 15 of them. Conclusions: Prenatal diagnosis of PAIVS allows a reliable prognosis of severity and planning of proper surgical repair strategies. Fetuses that are prenatally diagnosed present a more severe spectrum of the disease; for the cases capable of getting through the neonatal period, the mortality rate and the need for further intervention were not significantly different when compared with babies with only postnatal diagnosis.     

Transatrial-transpulmonary repair of tetralogy of Fallot: extensive infundibular septum resection.

Twenty-seven patients with tetralogy of Fallot underwent total correction during the period from February 1988 through October 1989. Their ages ranged from 11 months to 12 years (mean 3.3 +/- 4.9 years). For 11 patients, the repair was made via the conventional transventricular approach and a partial resection of the infundibular septum. On the other 16 patients, a transatrial-transpulmonary approach was used with total resection of the anterior deviated infundibular septum, with or without a miniventriculotomy incision (1-10 mm). The exposure of the ventricular septal defect (VSD) through the right atrium, and the right ventricular outflow tract (RVOT) through the pulmonary artery in patients with tetralogy of Fallot was excellent. There were no significant differences between transatrial-transpulmonary repair and transventricular repair of the tetralogy of Fallot with respect to pulmonary artery (PA) index (273.2 +/- 36.6 versus 249.9 +/- 63.2 mm2/BSA) or the postoperative ratio of right ventricle/left ventricle (RV/LV) systolic pressure (0.55 +/- 0.16 versus 0.61 +/- 0.17). Postoperative intensive care was simple and uncomplicated, with a significantly lower catecholamine demand, less bleeding, fewer blood transfusions, and shorter stays in the cardiac Intensive Care Unit (ICU). There was no mortality in this series. This method of repair can be successfully accomplished in most patients with tetralogy of Fallot, with resultant preservation of right ventricular function (intact right ventricle).     

Delivery room and early postnatal management of neonates who have prenatally diagnosed congenital heart disease

Advances in fetal echocardiography are providing highly accurate diagnoses of congenital heart disease prior to delivery, making it possible to plan the delivery-room management of these newborns. Knowledge of the expected transitional circulation occurring with birth and the pathophysiologic implications of congenital heart disease increases the likelihood of providing efficient and effective therapies. The majority of neonates who have congenital heart disease will not require delivery room resuscitation in excess of routine care; however, a small number of prenatally diagnosed cardiac lesions are more likely to require urgent postnatal intervention immediately following delivery. These cardiac lesions include transposition of the great arteries with intact ventricular septum and restrictive atrial septum, hypoplastic left heart syndrome with intact atrial septum, obstructed total anomalous pulmonary venous return, and complete congenital heart block. Prenatal diagnosis allows for coordination of care surrounding delivery and during the early postnatal hours.     

Postnatal outcome of fetal cardiac echogenic foci.

BACKGROUND AND PURPOSE: Cardiac echogenic foci are found frequently during fetal echocardiographic investigations and may be related to increased mineralization of the papillary muscles. However, data from postnatal follow-up are limited. This study investigated the clinical characteristics and postnatal echocardiographic findings in infants with cardiac echogenic foci identified prenatally. METHODS: Between March 1995 and April 1998, 43 fetuses were noted to have cardiac echogenic foci during the second trimester. Postnatal evaluation was completed for 20 of these 43 fetuses. No other congenital malformations were noted during the fetal stage or after birth. Postnatal echocardiography was performed from 17 months to 4 years and 7 months after birth. RESULTS: Seven (35%) infants had persistent cardiac echogenic foci. However, only one had mild mitral valve prolapse without mitral regurgitation. All fetuses had left ventricular (LV) foci and three also had right ventricular (RV) foci. One infant who had a LV focus prenatally was noted to have a RV focus on postnatal follow-up. Among the three infants with prenatal biventricular involvement, only one had biventricular involvement on postnatal follow-up. Other cardiac echogenic foci had disappeared in all infants. The probability of persistence of foci decreased with age and reached 50% at the age of 4 years and 4 months. Thereafter, cardiac echogenic foci tended to regress and only 11% of infants had persistence at the last follow-up. No significant difference was found in the rate of persistence between children with univentricular foci and those with biventricular foci. CONCLUSIONS: Although some fetal cardiac echogenic foci may persist after birth, fetal echogenic foci were not associated with significant intracardiac or extracardiac anomalies.     

Results of in utero atrial septoplasty in fetuses with hypoplastic left heart syndrome

OBJECTIVES: Neonates with hypoplastic left heart syndrome and intact or highly restrictive atrial septum have a high rate of mortality. We sought to assess the effect of prenatal intervention intended to create atrial septal defects in fetuses with this diagnosis. METHODS: We reviewed the medical records and imaging of all fetuses undergoing intervention for atrial septal defect creation in the setting of hypoplastic left heart syndrome and intact atrial septum. The procedures were performed with a percutaneous cardiac puncture under the guidance of ultrasonography. For the 21 interventions, patient and procedural characteristics were analyzed to identify predictors of neonatal outcome. RESULTS: Of 21 procedures attempted between 24 and 34 weeks' gestation, 19 were technically successful. Fetal demise occurred in two cases. The size of the created defect varied and measured at least 3 mm in six fetuses. Among 19 neonates, a larger atrial septal defect was associated with higher oxygen saturation and less need for intervention prior to surgical single-ventricle palliation. CONCLUSIONS: Technically successful atrial septal defect creation in fetuses with hypoplastic left heart syndrome and intact atrial septum results in atrial septal defects of varying size; defects of at least 3 mm in diameter appear to confer postnatal benefit.     

Ebstein-Anomalie des Fetus

The form of Ebstein’s anomaly that is already symptomatic in utero is a severe disease that is associated with a high intrauterine as well as neonatal mortality. Cardiac insufficiency and hydrops may already occur in utero; in the postnatal period establishment of sufficient pulmonary perfusion and/or cardiac output often fails. This review focuses on new aspects of intrauterine monitoring, as well as peri- and postnatal management in these patients.     

Fetale Heterotaxie-Syndrome

The spectrum of conditions associated with heterotaxy syndromes includes a wide variety of cardiovascular and visceral anomalies that are differently distributed amongst the two clinical variants, left and right isomerism, and which determine the intrauterine as well as the postnatal course and outcome. An exact prenatal diagnosis is therefore warranted. Important sonographic markers in heterotaxy syndromes are the associated anomalies of the situs and cardiac defects. Prenatal differentiation of the two clinical variants can be based on the anomalies, the course of the inferior vena cava and the presence of a heart block.In left isomerism, mortality is highest in the prenatal period due to frequent association with a complete heart block and subsequent intrauterine heart failure. In the postnatal period, the outcome depends mainly on the associated cardiac malformations and their ability to be corrected.In contrast, in right isomerism the mortality is highest in the postnatal period. This is mainly due to the more complex type of associated cardiac malformations.     

Congenital diaphragmatic hernia-associated cardiac dysfunction

There is increasing evidence that cardiac dysfunction is a key contributor to CDH pathophysiology. Dysfunction in both right and left ventricles is common in the early neonatal period, contributes to clinical disease severity, and is associated with adverse outcomes including death and ECMO use. Early and routine assessment of ventricular function and pulmonary artery pressure may guide individualized clinical decision-making, including use of pulmonary vasodilators, cardiotropes, ECMO, and timing of surgical repair. Minimizing cardiac dysfunction, whether by prenatal, postnatal or perinatal treatment strategies, may lead to improved outcome in CDH.     

Evaluation of conventional Doppler fetal cardiac function parameters: e/a ratios, outflow tracts, and myocardial performance index

Structural evaluation of the fetal heart is well established. Functional evaluation using pulsed-wave Doppler may also be performed. E/A ratios express the relationship between the maximal velocities of the E and A waveforms of ventricular filling. In normal fetuses, E/A ratios are usually <1 but show a constant increment during gestation, mainly related to the increment of the E wave. In intrauterine growth restriction (IUGR) fetuses, E/A ratios are lower compared to values in normally grown fetuses at the same gestational age. Cardiac outflows provide information on the time-velocity integral that, combined with the vessel area, allows calculation of the left and right cardiac outputs. In normal fetuses there is a predominance of the right ventricle (55-60%) in contributing to the combined cardiac output. In IUGR fetuses this predominance shifts to the left ventricle in order to increase the flow to the upper part of the fetal body and brain. The myocardial performance index (MPI) also provides information on systolic and diastolic cardiac function. The MPI is an early and consistent marker of cardiac dysfunction which becomes altered in early stages of chronic hypoxia or in cases with cardiac overload such as in twin-to-twin transfusion syndrome.     

Measurement of the fetal isovolumetric contraction time in the fetus with a left ventricular aneurysm

We present a case of an antenatally diagnosed congenital aneurysm of the left ventricle in which fetal cardiac contractility was evaluated by measuring the fetal isovolumetric contraction time (ICT). The workup of the fetus at 26 weeks' gestation led to the identification of a left ventricle aneurysm. Initially, the value of ICT of the left ventricle indicated adequate cardiac function. However, the fetal ICT was gradually prolonged, suspecting deteriorated cardiac contractility. Following an uncomplicated term delivery, a postnatal echocardiogram showed normal cardiac function. It is considered that because of the hypokinesis of the wall of the left ventricular aneurysm, the ICT did not fully predict cardiac function in this setting.     

First successful ventricular septation of double inlet left ventricle in Taiwan.

Patients with a double inlet ventricle may undergo surgery using a modified Fontan procedure, in which the pulmonary ventricle is not utilized, or a procedure in which a pulmonary ventricle is created through ventricular septation. Ventricular septation is preferred to the Fontan procedure because there is better cardiorespiratory response to exercise after surgery. A 4-year-old girl with Holmes heart underwent ventricular septation on 12 May 1998. Pulmonary artery banding had been performed at 3 months of age and rebanding 16 days later. She was well and continued to grow. Ultrafast computed tomography and cardiac catheterization prior to surgery showed a double inlet left ventricle (LV) connected to a right posterior aorta with a right-sided rudimentary right ventricle that drained to the left anterior pulmonary trunk. Left ventricular end diastolic volume was 218% of normal and the ejection fraction was 79%. After debanding and enlargement of the bulboventricular foramen, a 3 x 4-cm composite patch of equine pericardium and Dacron velour was used to septate the ventricle, with transmural stitching at the apical portion. The patient survived the operation with complete atrioventricular block, and was extubated 6 days later. A permanent pacemaker was implanted 1 month later. One year after surgery, she was doing well. Echocardiography revealed paradoxical septal motion with good ventricular function. This is the first report of successful ventricular septation of a double inlet left ventricle performed in Taiwan.     

Fetal cardiac asymmetry: a marker for congenital heart disease

Objective: To determine the sensitivity of prenatally detected fetal cardiac asymmetry as a sonographic marker for congenital heart disease.Methods: The normal ratios of pulmonary artery to aorta diameters and of right ventricle to left ventricle diameters were derived from normal fetuses scanned at 17 weeks or more in a 65-month period. Cross-sectional diameters of cardiac ventricles and great arteries were measured at the level of the valves at the time of the scan. Fetuses with confirmed cardiac anomalies detected prenatally during the study were examined to identify how many had cardiac asymmetry, determined by abnormal ratios.Results: Linear regression analysis of the group of 881 normal fetuses showed the normal pulmonary artery to aorta diameter ratio remained constant throughout pregnancy and the normal right ventricle to left ventricle ratio increased slightly with progressing gestational age. The 90% confidence intervals were 0.79, 1.24 for the right ventricle to left ventricle ratio and 0.84, 1.41 for the pulmonary artery to aorta ratio. Of the 73 fetuses with abnormal hearts, 66% had either ventricular or great artery asymmetry (at least one of the two ratios was abnormal). However, if no asymmetry was present, the cardiac defect was more likely to be a minor one.Conclusion: Cardiac asymmetry was present in two-thirds of fetuses with cardiac anomalies diagnosed prenatally. If cardiac asymmetry is found, a more thorough examination of the fetal heart is indicated.     

Fetal myocardial peak systolic strain before and after intrauterine red blood cell transfusion - a tissue Doppler imaging study

Abstract Objectives: The purpose of this study is to evaluate the cardiac function in anemic fetuses by tissue Doppler imaging (TDI) measuring the myocardial peak systolic strain (PS) in fetuses before and after intrauterine transfusion (IUT) of red blood cells. Methods: In our prospective clinical study in anemic fetuses, high-frame-rate TDI data files from a four-chamber view of fetal hearts pre- and post-IUT were analyzed. The biventricular PS parameters of the mid-segment of the ventricular walls [region of interest (ROI) 1 right ventricle, ROI 2 left ventricle] and the basal segment of the ventricular walls (ROI 3 tricuspid annulus, ROI 4 mitral annulus) were compared with the PS data of the normal controls. Results: We analyzed the pre-/post-data sets from the 15 hearts of anemic fetuses and from the 17 controls. The threshold of statistical significance was set to P≤0.05. Compared with the controls, in anemic fetuses the left ventricular longitudinal myocardial PS (ROI 2, P=0.001) and PS in the basal segment of the right ventricle (ROI 3 P=0.009) was significantly increased (absolute amount). Compared with pre-IUT, post-IUT PS decreased significantly in both ventricles (ROI 1 P=0.025, ROI 2 P=0.02). Compared with the controls, post-IUT left ventricular PS was still higher (absolute amount) (ROI 2, P=0.026; ROI 4, P=0.009). Conclusions: The increase in myocardial PS due to severe fetal anemia is partially normalized by IUT. In anemic fetuses, assessment of TDI fetal myocardial PS is feasible.     

Prenatally diagnosed hypoplastic left heart syndrome—Outcomes after postnatal surgery

Objective: To identify prenatally diagnosed cases of hypoplastic left heart syndrome (HLHS) and then to determine postnatal outcomes after surgical interventions.

Methods: An ultrasound and pediatric cardiology database was used to identify all fetuses diagnosed prenatally from 1991–1996 with HLHS. Fetal karyotypes were performed on cultured amniocytes. After diagnosis, parents were given several management options: pregnancy termination before 22 weeks, postnatal hospice care, or surgery using the Norwood procedure or cardiac transplantation. Ultrasound and echocardiography findings were later compared to karyotype results and postnatal outcome data.

Results: Fifteen fetuses with HLHS were identified. Two (16%) chromosome abnormalities and three (20%) structural defects were detected. Three mothers (20%) opted for pregnancy termination, two (13%) chose postnatal hospice care, and one aneuploid fetus had an intrauterine death. Nine parents (60%) chose surgery for their infants; however, one infant was not an appropriate surgical candidate due to a coexisting diaphragmatic hernia. Eight infants underwent surgery and two survived (25%). Of the four infants scheduled to undergo the Norwood procedure, one died preoperatively, two died intraoperatively, and one infant survived and is doing well at age 8 months. Of the four infants scheduled for cardiac transplantation, two died awaiting transplant and one died postoperatively. One infant survived cardiac transplantation but has microcephaly and developmental delay at age two.

Conclusions: In prenatally diagnosed HLHS at our institution, the survival rate following surgery for infants felt to be the best candidates was only 25%.     

Fetal spina bifida repair--current trends and prospects of intrauterine neurosurgery

Myelomeningocele is a common dysraphic defect leading to severe impairment throughout the patient's lifetime. Although surgical closure of this anomaly is usually performed in the early postnatal period, an estimated 330 cases of intrauterine repair have been performed in a few specialized centers worldwide. It was hoped prenatal intervention would improve the prognosis of affected patients, and preliminary findings suggest a reduced incidence of shunt-dependent hydrocephalus, as well as an improvement in hindbrain herniation. However, the expectations for improved neurological outcome have not been fulfilled and not all patients benefit from fetal surgery in the same way. Therefore, a multicenter randomized controlled trial was initiated in the USA to compare intrauterine with conventional postnatal care, in order to establish the procedure-related benefits and risks. The primary study endpoints include the need for shunt at 1 year of age, and fetal and infant mortality. No data from the trial will be published before the final analysis has been completed in 2008, and until then, the number of centers offering intrauterine MMC repair in the USA is limited to 3 in order to prevent the uncontrolled proliferation of new centers offering this procedure. In future, refined, risk-reduced surgical techniques and new treatment options for preterm labor and preterm rupture of the membranes are likely to reduce associated maternal and fetal risks and improve outcome, but further research will be needed.     

Pulmonary atresia with hypoplastic right ventricle. A clinical embryological study

An unusual case of pulmonary atresia with an aberrant karyotype of 46,XX,t(6;8)(p21.2;q11.2) is reported. Fetal ultrasonic examination at the 20th week of gestation revealed a hypoplastic right ventricle and an intact interventricular septum. Authors summarize their postnatal findings in fetal heart and the large adjacent vessels with special reference to the pathogenesis of this rare congenital heart defect. The observation delineates right-ventricular outflow tract obstruction associated with an abnormal pulmonary blood supply. The anatomy of the systemic pulmonary collaterals was studied and correlated with multifocal disorders in the system of the pharyngeal arch arteries in the early embryonic development.     

Prenatal diagnosis and postnatal outcome of cardiac rhabdomyomas

AIMS: To evaluate the sonographic appearance of suspected fetal cardiac rhabdomyomas and their evolution until delivery and in the postnatal period. METHODS: The study group consisted of 6 patients at 23-37 weeks of gestation referred to our Ultrasonic Unit, between March 1992 and December 1998, for suspected fetal cardiac rhabdomyomas. RESULTS: The cardiac tumors were single in three cases and multiple in the other cases. The size ranged from 11 to 47 mm. In two cases the tumors arose from the right ventricle, in one case from the interventricular septum and in three cases from the left ventricle. Five infants are alive and in satisfactory hemodynamic compensation, but three of them developed tuberous sclerosis. In two infants a regression in the maximum diameter of the tumor masses has been observed. One child underwent surgical treatment at the age of six months and the baby died after surgery. CONCLUSIONS: Two-dimensional and Doppler echocardiography are useful non invasive methods to diagnose fetal cardiac rhabdomyomas and to monitor their influence on the fetal cardiac function. However they do not allow us to recognize which fetuses presenting with features compatible with rhabdomyomas will develop tuberous sclerosis.     

Intrauterine Therapie bei fetalen Herzfehlern

The life-threatening effects of therapy-refractory fetal arrhythmias, severe semilunar valve obstructions as well as other rare congenital cardiac malformations have inspired the development of various experimental prenatal treatment approaches in animal and human studies. Some of these novel fetal cardiac interventions are currently under clinical evaluation by a few centers. They may not only serve as potentially lifesaving treatment approaches but also improve postnatal quality of life and the prognosis in selected patients. Following an adequate learning curve supervised by ethics committees, the overall outcome and quality of postnatal life of the treated neonates will ultimately determine whether fetal cardiac interventions will become better therapeutic alternatives to currently available postnatal procedures. The aim of this article is to provide the interested reader with a short and critical appraisal of these novel therapeutic approaches.