Prenatally diagnosed pseudoaneurysm of mitral-aortic intervalvular fibrous area.

The mitral-aortic intervalvular fibrosa (MAIVF) is an avascular, fibrous structure that provides continuity between the anterior leaflet of the mitral valve and the aortic valve. Pseudoaneurysm of the MAIVF is rare and has been most commonly described in adults and, more rarely, in children following cardiac surgery or endocarditis. Few reports have been published on cases with congenital pseudoaneurysm of the MAIVF. Here, we describe five cases of congenital pseudoaneurysm of the MAIVF identified prenatally and an additional six cases diagnosed postnatally. This is an unusual finding of varying clinical significance, which can be isolated or associated with complex congenital heart disease but, importantly, can be identified and monitored in the fetus. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Severe left diaphragmatic hernia limits size of fetal left heart more than does right diaphragmatic hernia.

OBJECTIVES: To assess whether severity of congenital diaphragmatic hernia (CDH) correlates with the degree of left heart hypoplasia and left ventricle (LV) output, and to determine if factors leading to abnormal fetal hemodynamics, such as compression and reduced LV preload, contribute to left heart hypoplasia. METHODS: This was a retrospective cross-sectional study of fetuses at 16-37 weeks' gestation that were diagnosed with CDH between 2000 and 2010. Lung-to-head ratio (LHR), liver position and side of the hernia were determined from stored ultrasound images. CDH severity was dichotomized based on LHR and liver position. The dimensions of mitral (MV) and aortic (AV) valves and LV were measured, and right and left ventricular outputs were recorded. RESULTS: In total, 188 fetuses with CDH were included in the study, 171 with left CDH and 17 with right CDH. Fetuses with severe left CDH had a smaller MV (Z = -2.24 ± 1.3 vs -1.33 ± 1.08), AV (Z = -1.39 ± 1.21 vs -0.51 ± 1.05) and LV volume (Z = -4.23 ± -2.71 vs -2.08 ± 3.15) and had lower LV output (26 ± 10% vs 32 ± 10%) than those with mild CDH. MV and AV in fetuses with right CDH (MV, Z = -0.83 ± 1.19 and AV, Z = -0.71 ± 1.07) were larger than those in fetuses with left CDH, but LV outputs were similarly diminished, regardless of hernia side. Severe dextroposition and abnormal liver position were associated independently with smaller left heart, while LHR was not. CONCLUSION: The severity of left heart hypoplasia correlates with the severity of CDH. Altered fetal hemodynamics, leading to decreased LV output, occurs in both right- and left-sided CDH, but the additional compressive effect on the left heart is seen only when the hernia is left-sided. Improved knowledge of the physiology of this disease may lead to advances in therapy and better risk assessment for use in counseling affected families.

The impact of fetal echocardiography.

Fetal echocardiography has impacted the fetus with congenital heart disease in many important ways. Advances in fetal echocardiography have allowed for more accurate and earlier detection of cardiac abnormalities. In turn, the prenatal diagnosis of cardiac abnormalities has improved the care and outcome of selected fetuses with severe cardiac malformations or arrhythmias. Fetal echocardiography has improved the understanding of the development and evolution of congenital heart disease in utero, and it may serve a role in identifying candidates for prenatal intervention. The prenatal diagnosis of congenital heart disease has allowed for better counseling and preparation of families regarding the anticipated prenatal development of the fetus as well as the expected postnatal management plans and prognosis. This article reviews the impact of fetal echocardiography in these and other areas.

Congenital absence of aortic valvar leaflets: a rare variant of the hypoplastic left heart syndrome.

Congenital absence of aortic valvar leaflets is a rare and fatal variant of the hypoplastic left heart syndrome. We describe a recent patient seen at our institution with this lesion, illustrating a combined echocardiographic and angiographic approach that delineates both anatomy and physiology. The early mortality experienced in previous reports, as well as unsuccessful surgical palliation in our case, should promote further discussion regarding the optimal treatment.

Neonatal repair of truncus arteriosus: continuing improvement in outcomes.

BACKGROUND: Repair of truncus arteriosus in the neonatal and early infant periods has become standard practice at many centers. We reviewed our recent experience with repair of truncus arteriosus in neonates, with a focus on early and intermediate outcomes. METHODS: From July 1992 to December 1999, 65 patients 1 month of age or less underwent primary complete repair of truncus arteriosus. Median age was 10 days, and median weight was 3.2 kg. Major associated anomalies included moderate or severe truncal valve regurgitation in 15 patients (23%), interrupted aortic arch in 8 (12%), coronary artery abnormalities in 12 (18%), and nonconfluence of the pulmonary arteries in 3 (5%). Median durations of cardiopulmonary bypass and cardioplegic arrest were 172 minutes and 90 minutes, respectively. Circulatory arrest was employed only in 7 patients undergoing concomitant repair of interrupted arch. Reconstruction of the right ventricular outflow tract was achieved with an aortic (n = 39) or pulmonary (n = 26) allograft valved conduit (median diameter, 12 mm). Replacement (n = 6) or repair (n = 5) of a regurgitant truncal valve was performed in 11 patients, and interrupted arch was repaired in 8. RESULTS: There were three early deaths (5%). Early reoperations included reexploration for bleeding in 3 patients, emergent replacement of a pulmonary outflow conduit that failed acutely in 1 patient, and placement of a permanent pacemaker in 1. Mechanical circulatory support was required in 1 patient. During the median follow-up of 32 months, there were two deaths. The Kaplan-Meier estimate of survival was 92% at 1 year and beyond. The only demographic, diagnostic, or operative factors significantly associated with poorer survival over time were operative weight of 2.5 kg or less (p = 0.01) and truncal valve replacement (p = 0.009). Actuarial freedom from conduit replacement among early survivors was 57% at 3 years. CONCLUSIONS: Repair of truncus arteriosus in the neonatal period can be performed routinely with excellent survival, even in patients with major associated abnormalities.

Unrecognized esophageal perforation in a neonate during transesophageal echocardiography.

Esophageal perforation caused by transesophageal echocardiography in an infant is believed to be extremely rare. If unrecognized, serious morbidity can result. We report a case of pharyngeal perforation in a neonate undergoing an interrupted aortic arch repair.

Systemic venous abnormalities: embryologic and echocardiographic considerations.

The echocardiographic diagnosis of systemic venous anomalies often is rendered difficult by the variety of lesions that exist. An understanding of the embryologic processes that result in these lesions is essential for accurate identification, since these lesions often are not obvious on routine echocardiographic examination. Standard echocardiographic views may demonstrate some lesions, whereas many require modified views to outline the abnormal systemic venous anatomy. This paper reviews the basic embryologic processes of the development of the normal and abnormal systemic venous system, as well as the echocardiographic identification of these major systemic venous malformations.

Evaluation of fetal heart dimensions from 12 weeks to term.

To evaluate whether fetal cardiac measurements can be made in the second trimester, we examined a cohort of normal pregnancies between 12 and 18 weeks' gestation using state-of-the-art ultrasound equipment. We examined this population longitudinally at intervals of 2 weeks, as well as at 32 weeks' gestation. From the 4-chamber view we measured the ventricular and atrial cavity dimensions, the thickness of the ventricular walls and septum at end-diastole, and the annulus dimensions of the mitral and tricuspid valves. Using a variety of views we also measured the long and cross-sectional diameters of the atria, the aorta, the pulmonary artery and its main left and right branches, the ductus arteriosus, and the superior and inferior vena cavae. To test the frequency with which measurements could be made, we divided them into measurements that were clear and easy to define (statistically good), to those that were unclear (statistically bad), or those that were not measured at all (none). Data were then analyzed by regression analysis, analysis of variance, and covariance. The frequency of reliable measurements varied inversely with gestational age. The inflection point for measurements was approximately at 16 weeks. Data from this longitudinal study were evaluated against those obtained from our previous study. Because no statistical differences were found in measurements between these studies where they overlapped, the data were pooled into 1 large group and the mean and SEEs calculated for all variables. Our study demonstrates that with current transabdominal imaging, fetal cardiac measurements can be made reliably in normal fetuses from 16 weeks' gestation onward. The frequency of obtaining data in younger normal fetuses suggests it is unlikely that reliable observations can be made routinely in abnormal fetuses < 16 weeks old, although this might be possible in individual fetuses.

Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome.

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is frequently diagnosed prenatally, but this has not been shown to improve surgical outcome. METHODS AND RESULTS: We reviewed patients with HLHS between July 1992 and March 1999 to determine the influence of prenatal diagnosis on preoperative clinical status, outcomes of stage 1 surgery, and parental decisions regarding care. Of 88 patients, 33 were diagnosed prenatally and 55 after birth. Of 33 prenatally diagnosed patients, 22 were live-born, and pregnancy was terminated in 11. Of 22 prenatally diagnosed patients who were live-born, 14 underwent surgery, and parents elected to forego treatment in 8. Of 55 patients diagnosed postnatally, 38 underwent surgery, and 17 did not because of parental decisions or clinical considerations. Prenatally diagnosed patients were less likely to undergo surgery than patients diagnosed after birth (P:=0.008). Among live-born infants, there was a similar rate of nonintervention. Among patients who underwent surgery, survival was 75% (39/52). All patients who had a prenatal diagnosis and underwent surgery survived, whereas only 25 of 38 postnatally diagnosed patients survived (P:=0.009). Patients diagnosed prenatally had a lower incidence of preoperative acidosis (P:=0.02), tricuspid regurgitation (P:=0.001), and ventricular dysfunction (P:=0.004). They were also less likely to need preoperative inotropic medications or bicarbonate (P:=0.005). Preoperative factors correlating with early mortality included postnatal diagnosis (P:=0.009), more severe acidosis (P:=0.03), need for bicarbonate or inotropes (P:=0.008 and 0.04), and ventricular dysfunction (P:=0.05). CONCLUSIONS: Prenatal diagnosis of HLHS was associated with improved preoperative clinical status and with improved survival after first-stage palliation in comparison with patients diagnosed after birth.

Evaluation of the morphology of the oval fossa for placement of devices.

OBJECTIVES: First, to examine the morphology of heart specimens with defects of the oval fossa so as to define the factors that facilitate appropriate selection of the size of devices used for inteventional closure. Second, to examine the relationship between morphology and transthoracic and transesophageal echocardiography. BACKGROUND: The success of transcatheter closure is influenced by the variable morphology of deficiencies with the oval fossa, and of the relationship of the fossa itself to adjacent structures. More appropriate selection could reduce the incidence of failures. METHODS: From over 100 specimens in the cardiac registry at the University of California, San Francisco, we judged 16 hearts with atrial septal defects within the oval fossa, either in isolation or associated with other cardiac malformation, to be suitable for this study. We measured the dimensions of the defect and the surrounding rims of the fossa. All values were normalized to the diameter of the aortic root. RESULTS: A fenestrated defect was present in 9 specimens (56%). The shape defect itself was oval in all specimens, with a ratio of major to minor axes of 1.70 + 0.63. The major axis took one of three main directions with respect to the vertical plane: in 11 specimens (69%o) it was at horizontal; in 3 (19%) it was at oblique at an angle of 45 degrees; and in 2 (12%) it was vertical. Discordance was noted in some hearts between the major axis of the defect and that of the oval fossa. Structures closest to the rim of the fossa were the aortic mound, the coronary sinus, and the hinge point of the aortic leaflet of the mitral valve. CONCLUSIONS: Extrapolating from these specimens permitted identification of the major and minor axes of the atrial septal defect by transthoracic and transesophageal echocardiography. Our study has identified landmarks and dimensions that may be employed to improve effectiveness of selection of patients for transcatheter closure of defects within the oval fossa.

Transesophageal echocardiographic predictors for successful transcatheter closure of defects within the oval fossa using the CardioSEAL septal occlusion device.

OBJECTIVES: To define the utility of transesophageal echocardiography in predicting the likelihood of a successful procedure and residual shunting in patients undergoing transcatheter closure of defects within the oval fossa using the CardioSEAL device. BACKGROUND: Transesophageal echocardiography is used to monitor transcatheter closure of interatrial defects within the the oval fossa, but predictors of successful closure and residual shunting have yet to be determined. METHODS: We reviewed transesophageal echocardiograms obtained from 26 consecutive patients undergoing attempted transcatheter closure of interatrial defects within the oval fossa between January, 1997 and May, 1998. Assessment of the atrial septum, the septal defect, and the rims of the oval fossa bordering the defect was performed in 3 planes: longitudinal, 4-chamber, and basal short-axis. RESULTS: Closure proved successful in 24 patients (92%). The defect was significantly larger, and the anterosuperior rim of the defect smaller, in the 2 patients in whom occlusion was not successful. Residual shunting 24 hrs after closure was detected in 14 patients. Significant predictors of leakage included smaller posterior and superior rims, a larger shunt prior to closure, and herniation of a one left atrial arm of the device into the right atrium. In all cases, the sites of leakage were the superior rim of the defect at the superior cavo-atrial junction, and the anterosuperior rim behind the aortic root. Herniation of a left atrial arm into the right atrium was seen in 7 patients (29%). In all, it was the anterosuperior arm which herniated Doppler color flow was suboptimal in detecting residual leaks, and was enhanced substantially with the use of contrast echocardiography. CONCLUSIONS: Transesophageal echocardiography allows excellent assessment of the oval fossa and deficiencies of its floor in all of their dimensions. It is an important tool for guiding the deployment of the occlusion device in patients undergoing attempted transcatheter closure of defects within the fossa. Contrast echocardiography should be used for optimal detection of residual shunting.

Echocardiographic guidance for transcatheter coil embolization of congenital coronary arterial fistulas in children.

Congenital coronary arterial fistulas are rare anomalies that have traditionally been managed by surgical ligation. However, in recent years endovascular therapy has been employed with encouraging results. Between 1993 and 1996, we performed transcatheter coil embolization of coronary arterial fistulas to the right atrium or ventricle in four children ranging in age from 4.5 to 9.8 years. Cardiac and coronary arterial anatomy were diagnosed correctly on the preoperative echocardiogram in all patients, including the origin, course, and termination of the fistulas. The fistula was occluded completely in three of the patients, whereas trivial residual flow remained in the fourth. Transesophageal echocardiography was useful for monitoring the embolization procedure. In one of the patients, the fistula reopened while the child was on overnight heparin, although the magnitude of flow was less than that before the embolization. At follow-up ranging from 10 to 43 months, there was no flow through the fistula in any patient. We present our experience with these patients, with a focus on the importance of echocardiographic evaluation before, during, and after transcatheter therapy of coronary arterial fistulas.

World experience of percutaneous ultrasound-guided balloon valvuloplasty in human fetuses with severe aortic valve obstruction.

Prenatal alleviation of severe fetal aortic valve obstructions by percutaneous ultrasound-guided balloon valvuloplasty has been performed to improve the fate of affected fetuses. The purpose of this study was to analyze the current world experience of these procedures in human fetuses. Data from 12 human fetuses were available for analysis. The mean gestational age at intervention was 29.2 weeks (range 27 to 33). The mean time period between initial presentation and intervention was 3.3 weeks (range 3 days to 9 weeks). Technically successful balloon valvuloplasties were achieved in 7 fetuses, none of whom had an atretic valve. Only 1 of these fetuses remains alive today. Of the 5 remaining technical failures, 1 patient with severe aortic stenosis underwent successful postnatal intervention and remains alive. Six patients who survived prenatal intervention died from cardiac dysfunction or at surgery in the first days or weeks after delivery. Four fetuses died early within 24 hours after the procedure, 1 from a bleeding complication, 2 from persistent bradycardias, and 1 at valvotomy after emergency delivery. Thus, the early clinical experience of percutaneous ultrasound-guided fetal balloon valvuloplasty in human fetuses with severe aortic valve obstruction has been poor due to selection of severe cases, technical problems during the procedure, and high postnatal operative mortality in fetuses who survived gestation. Improved patient selection and technical modifications in interventional methods may hold promise to improve outcome in future cases.

Aortic vasculopathy with aneurysm: a rare cause of fetal hydrops.

An hydropic fetus seen at 28-weeks gestation had a saccular aortic aneurysm in the descending thoracic aorta. Histology disclosed marked fibrointimal hyperplasia, thrombus, and attenuation of the tunica media. The remainder of the descending thoracic aorta showed fibrointimal hyperplasia. We speculate that the narrowed lumen and rigid aortic wall resulting from this vasculopathy provided an increased afterload leading to cardiac failure.

Reinterventions after repair of common arterial trunk in neonates and young infants.

OBJECTIVES: To determine rates of reintervention after repair of common arterial trunk in the neonatal and early infant periods. BACKGROUND: With improving success in the early treatment of common arterial trunk, the need for reinterventional procedures in older children, adolescents and adults will become an increasingly widespread concern in the treatment of these patients. METHODS: We reviewed our experience with 159 infants younger than four months of age who underwent complete primary repair of common arterial trunk at our institution from 1975 to 1998, with a focus on postoperative reinterventions. RESULTS: Of 128 early survivors, 40 underwent early reinterventions for persistent mediastinal bleeding or other reasons. During a median follow-up of 98 months (range, 2 to 235 months), 121 reinterventions were performed in 81 patients. Actuarial freedom from reintervention was 50% at four years, and freedom from a second reintervention was 75% at 11 years. A total of 92 conduit reinterventions were performed in 75 patients, with a single reintervention in 61 patients, 2 reinterventions in 11 patients and 3 reinterventions in 3 patients. Freedom from a first conduit reintervention was 45% at five years. The only independent variable predictive of a longer time to first conduit replacement was use of an allograft conduit at the original repair (p = 0.05), despite the significantly younger age of patients receiving an allograft conduit (p < 0.001). Reintervention on the truncal valve was performed on 22 occasions in 19 patients, including 21 valve replacements in 18 patients and repair in 1, with a freedom from truncal valve reintervention of 83% at 10 years. Surgical (n = 29) or balloon (n = 12) reintervention for pulmonary artery stenosis was performed 41 times in 32 patients. Closure of a residual ventricular septal defect was required in 13 patients, all of whom underwent closure originally with a continuous suture technique. Eight of 16 late deaths were related to reintervention. CONCLUSIONS: The burden of reintervention after repair of common arterial trunk in early infancy is high. Although conduit reintervention is inevitable, efforts should be made at the time of the initial repair to minimize factors leading to reintervention, including prevention of branch pulmonary artery stenosis and residual interventricular communications.

Issues and outcomes in the management of supravalvar aortic stenosis.

BACKGROUND: Supravalvar stenosis of the aorta is an uncommon congenital cardiac anomaly that involves not only the supravalvar aorta but the entire aortic root. Despite considerable attention to the importance of maintaining the integrity of the aortic root during supravalvar reconstruction, there has been little focus on the management of other components of the aortic root and left ventricular outflow tract, including the aortic valve, subvalvar region, and coronary arteries. METHODS: We reviewed the records of 36 consecutive patients with supravalvar aortic stenosis who underwent repair from 1992-1998 (median age, 4 years). Discrete stenosis was present in 29 patients, whereas the remaining 7 had the diffuse form of the disease. Associated anomalies of the aortic root and adjacent structures were present in 23 patients. The median pressure gradient across the left ventricular outflow tract was 70 mm Hg. Supravalvar stenosis was relieved by extended aortoplasty with a Y-shaped patch in 18 patients, resection of the stenotic segment of ascending aorta at the sinotubular junction with end-to-end anastomosis of the ascending aorta in 7, the Ross procedure in 4, and other techniques in 7. Additional procedures included aortic valvuloplasty in 10 patients, resection of subvalvar stenosis in 11, and procedures on the coronary arteries in 2. RESULTS: There was 1 perioperative death, and no reoperations or other significant complications. During follow-up (median 33 months), there were no deaths and 3 reoperations for replacement of the aortic valve with a pulmonary autograft (n = 1) or mechanical prosthesis (n = 2). The median pressure gradient across the left ventricular outflow tract was 10 mm Hg. CONCLUSIONS: In patients with supravalvar aortic stenosis, abnormalities of the aortic valve, subaortic region, and coronary arteries are frequently present as well. Management of these issues is as critical to the long-term outcome of these patients as reconstruction of the supravalvar aorta. Aggressive valvuloplasty may help decrease the incidence of late aortic valve replacement, whereas the Ross procedure may be a preferable approach in some patients with complex outflow tract obstruction.

Transesophageal echocardiography (TEE) in congenital heart disease with focus on the adult.

Remarkable innovations in medical and surgical approaches over the past several decades now allow for correction of major cardiac defects in children, even in early infancy. These advances have provided for survival of many pediatric patients with congenital heart disease into adulthood. Although transthoracic echocardiography remains the primary imaging technique for the characterization of simple and complex congenital cardiovascular malformations in the pediatric and adult age groups, high-resolution transesophageal imaging has markedly expanded the anatomic and hemodynamic assessment in these patients. The benefits of this imaging approach apply particularly to those with challenging or limited transthoracic examinations or poorly characterized congenital cardiovascular malformations. The utility of TEE in defining the anatomy of the usual spectrum of congenital cardiac malformations is well established. The transesophageal approach has been shown to provide additional diagnostic information over conventional transthoracic imaging for specific structural cardiac anomalies and in the perioperative setting, the opportunity for confirmation of preoperative diagnoses, and modification of the surgical plan if new or different pathology is identified. This imaging modality also may reliably provide for immediate detection of suboptimal surgical repairs and significant postoperative residua, potentially improving the efficacy of the surgical intervention. This accounts for the vital role of this technology in perioperative management and integration into the standard of care in many congenital heart centers. The usefulness of TEE also has been documented during diagnostic and therapeutic cardiac catheterizations of patients with structural cardiac anomalies, allowing for safer and more effective application of these technologies. The experience supports the use of TEE as a useful approach in the surveillance of the adult with operated and unoperated congenital heart disease.

Fetal transesophageal echocardiography utilizing a 10-F, 10-MHz intravascular ultrasound catheter--comparison with conventional maternal transabdominal fetal echocardiography in sheep.

The purpose of our study in fetal sheep was to assess the measurement agreement between fetal transesophageal echocardiography (FTEE) and conventional maternal transabdominal echocardiography (CMTFE) by the Bland-Altman method. We performed our study in 11 fetal sheep between 95-103 days of gestation (term = 145 days). FTEE was performed by imaging the fetal heart in horizontal planes utilizing a 10-F, 10-MHz intravascular ultrasound catheter. CMTFE was carried out using a 5.0-MHz phased-array transducer replicating the FTEE imaging planes. We found close agreement between FTEE and CMTFE measurements of great vessel and cardiac valvar dimensions. Conversely, the variability between both techniques for measuring ventricular dimensions was inadequate. We conclude that FTEE permits measurement of great vessel and cardiac valve dimensions with high agreement with CMTFE measurements. This finding strengthens the applicability of FTEE as a monitoring tool during experimental open or fetoscopic fetal cardiac interventions.