Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.

BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years. CASE PRESENTATION: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND. CONCLUSION: The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.

Pulmonary artery dissection secondary to ventricular septal defect and pulmonary valve stenosis.

The aortic short axis view demonstrated the widening of the pulmonary artery and the membrane-like echo in the pulmonary artery divided it into true lumen and false lumen. And the flow of the ruptured openings on the band-like echo was clearly revealed by Color Doppler.

Clinical Presentation and Therapy of Ventricular Septal Defect.

Ventricular septal defects (VSDs) occur in 1.5-3.5 of 1000 live births and constitutes 20 % of congenital cardiac defects. There is no gender predominance.

Clinical Presentation and Therapy of d-Transposition of the Great Arteries.

d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present. About one-third to 40% of patients with d-TGA have an associated ventricular septal defect. Among patients with d-TGA, 6% of those with intact ventricular septum and 31% of those with ventricular septal defect have associated pulmonary stenosis. Coronary abnormalities are of importance with regard to the complexity of surgical repair.

Early Clinical Outcomes in Infants with Prenatally Diagnosed Perimembranous and Muscular Ventricular Septal Defects (VSDs).

Isolated ventricular septal defect (VSD) is often associated with good clinical outcomes. However, infants prenatally diagnosed with VSD are often recommended for delivery at tertiary care centers. The aim of our study was to determine the odds of neonatal intensive care unit (NICU) admission in infants with persistent isolated VSD and complicated VSD, where an infant is affected by VSD and other genetic/structural abnormalities. We performed a retrospective cohort study, with data collected from a single academic institution from June 2018 to March 2023. Individuals with prenatally diagnosed VSD, in the absence of any other heart defects, were included in this study. The primary outcome was admission to the NICU. Multivariable logistic regression was used to assess associations. The association between persistence of VSD and NICU admission was adjusted for maternal age, fetal genetic abnormalities, fetal extracardiac abnormalities, and gestational age at the time of delivery. The association between complicated VSD and NICU admission was adjusted for maternal age and gestational age of the infant at the time of delivery. The odds of NICU admission were similar in infants with persistent isolated VSD and VSD that closed in utero (adjusted OR 1.31, 95% CI 0.30-5.61). However, infants with complicated VSD were at increased risk of NICU admission (adjusted OR 15.52, 95% CI 2.90-82.92). The risk of NICU admission was only increased in infants whose VSD was complicated by another genetic/major structural abnormalities. Therefore, women whose infants are prenatally diagnosed with VSD alone may not require delivery at tertiary care centers.

A Retrospective Study in Occluding Sub-arterial Ventricular Septal Defect.

To assess the safety and effectiveness of utilizing eccentric occlusion for the treatment of sub-arterial ventricular septal defects, we performed a retrospective study on the classification and analysis of relevant cases. A total of 105 patients with a minimally invasive incision were enrolled in this study, from April 2018 to September 2022. All patients underwent treatment of transthoracic sub-arterial ventricular septal defect occlusion. We analyzed the causes of closure failure, indication, and complication. Briefly, the closure device was successfully implanted in 78 cases (74.2%) with a mean age of 31.4 ± 31.8 months, VSD size of 4.3 ± 0.9 mm, and device size of 6.0 ± 1.1 mm. However, 27 cases (25.8%) required cardiopulmonary bypass due to failure of occlusion. The reasons for failure included 13 cases with worsened aortic regurgitation, two cases with worsened aortic valve prolapse, one case with worsened mitral regurgitation, eight cases with significant residual shunt, and three cases with deviated occlusion morphology. During the 1-36-month follow-up visit, no cases experienced displacement of the eccentric umbrella, shedding, or arrhythmia. All residual shunts resolved during the visit. We concluded that occlusion for sub-arterial VSD has sufficient security and feasibility, under the strict control of surgical indications, appropriate choice of occluder and precise perioperative management.

Percutaneous Closure of Hemodynamically Significant Postoperative Residual Ventricular Septal Defects.

The experience with percutaneous closure of postoperative residual ventricular septal defects (VSDs) is expanding with improved device technology and techniques. To report our experience with percutaneous closure of residual VSDs after cardiac surgeries. Retrospective clinical data review of patients who had percutaneous closure of postoperative residual VSDs at our institution between 2010 and 2022. Patients' demographics, procedural, and follow-up data were looked at. Twelve patients (50% males) with a median age of 9.2 years (range 0.9-22) were identified. Baseline surgeries were 8 tetralogy of Fallot corrections, 2 pulmonary bandings for large muscular VSD (mVSD) including 1 coarctation repair, 1 atrioventricular septal defect repair, 1 sub-aortic membrane resection-induced iatrogenic VSD, 1 isolated VSD closure, and 1 additional mVSD. Median duration between baseline surgery and percutaneous VSD closure was 2.2 years (range 0.2-8.3). Residual VSD shunting was secondary to surgical patch leakage in 8/12 patients. The median angiographic defect diameter was 6.8 mm (range 4.8-14). The defect was balloon-calibrated in 3/12 patients. Defects were tackled retrogradely in 3/9 patients. Amplatzer Membranous VSD occluder (n = 1), Lifetech Multifunctional (n = 5), Membranous (n = 1) and muscular VSD occluders (n = 2) and Occlutech Membranous (n = 1) and Muscular (n = 2) VSD occluders were used. The procedure was successful in 10/12 patients. Two devices embolized to the pulmonary artery and were snare-retrieved. Both patients were referred for surgery. The median follow-up was 1.3 years (range 0.1-12). Six-month ultrasound showed one trivial residual shunt and one mild right ventricular outflow obstruction. One patient is receiving targeted therapy for pulmonary hypertension at 2 years of follow-up. Transcatheter closure of postoperative residual VSDs is a feasible yet challenging intervention. Procedural complications can be encountered.

Clinical Outcomes and Echocardiographic Predictors of Reintervention After Interrupted Aortic Arch Repair.

Left ventricular outflow tract obstruction (LVOTO) remains a significant complication after primary repair of interrupted aortic arch with ventricular septal defect (IAA-VSD). Clinical and echocardiographic predictors for LVOTO reoperation are controversial and procedures to prophylactically prevent future LVOTO are not reliable. However, it is important to identify the patients at risk for future LVOTO intervention after repair of IAA-VSD. Patients who underwent single-stage IAA-VSD repair at our center 2006-2021 were retrospectively reviewed, excluding patients with associated cardiac lesions. Two-dimensional measurements, LVOT gradients, and 4-chamber (4C) and short-axis (SAXM) strain were obtained from preoperative and predischarge echocardiograms. Univariate risk analysis for LVOTO reoperation was performed using unpaired t-test. Thirty patients were included with 21 (70%) IAA subtype B and mean weight at surgery 3.0 kg. Repair included aortic arch patch augmentation in 20 patients and subaortic obstruction intervention in three patients. Seven (23%) required reoperations for LVOTO. Patient characteristics were similar between patients who required LVOT reoperation and those who did not. Patch augmentation was not associated with LVOTO reintervention. Patients requiring reintervention had significantly smaller LVOT AP diameter preoperatively and at discharge, and higher LVOT velocity, smaller AV annular diameter, and ascending aortic diameter at discharge. There was an association between LVOT-indexed cross-sectional area (CSAcm2/BSAm2) ≤ 0.7 and reintervention. There was no significant difference in 4C or SAXM strain in patients requiring reintervention. LVOTO reoperation was not associated with preoperative clinical or surgical variables but was associated with smaller LVOT on preoperative echo and smaller LVOT, smaller AV annular diameter, and increased LVOT velocity at discharge.

Intracardiac Three-Dimensional Image as Surgical Decision-Making Tool of Congenital Heart Disease.

This study aimed to evaluate the anatomical reproducibility of a preoperative intracardiac 3D image (IC image) created using computed tomography, and to investigate its usefulness as a surgical decision-making tool. Between 2012 and 2022, ventricular septal defect (VSD) patients, and double outlet right ventricle (DORV) or transposition of the great arteries (TGA) with pulmonary stenosis (PS) patients who underwent cardiac surgery and had preoperative computed tomography were enrolled. SYNAPSE VINCENT® (Fujifilm) was used to create an IC image which was analyzed retrospectively. In 14 VSD patients, the diagnostic consistency rate in the Soto classification with intraoperative findings was 100% (14/14) for IC image versus 64% (9/14) for transthoracic echocardiography (P = 0.04). The defect size showed a higher correlation coefficient with IC image (0.837, P = 0.001) than with transthoracic echocardiography (0.567, P = 0.034). In 11 DORV/TGA with PS patients, the diagnostic consistency rate in the Lev classification was 100% (9/9) for IC image versus 77% (7/9) for transthoracic echocardiography (P = 0.47). The secondary interventricular foramen (SVF)/left ventricular outflow tract (LVOT) ratio by IC image was significantly smaller in the biventricular-repair group (median 0.71, IQR 0.67-1.06) than in the univentricular-repair group (median 1.79, IQR 1.53-2.42) (P = 0.006). An IC image is useful as a surgical decision-making tool for simple VSDs and complex congenital heart diseases such as DORV or TGA with pulmonary stenosis. The SVF/LVOT ratio determined from the IC image may be a useful indicator for avoiding LVOT obstruction.

All that flows across the ventricular septum are not ventricular septal defects.

Coronary cameral fistula is a rare congenital anomaly and clinical presentation depends on the location of the defect, degree of shunting, and associated complications. We present a case of coronary cameral fistula where segmental analysis by echocardiogram helped us to avoid misdiagnosis as a ventricular septal defect.

Preliminary experience with transcatheter closure of wind-sock-like perimembranous ventricular septal defects using Amplatzer Vascular Plug IV devices.

Amplatzer Vascular Plug IV (Abbott, USA) is usually used for the occlusion of abnormal tortuous vessels and has not been tried for the transcatheter closure of perimembranous ventricular septal defects with wind-sock morphology. Here, we report on three successful cases of perimembranous ventricular septal defect transcatheter closure using Amplatzer Vascular Plug IV. We did not observe residual shunting or new onset of complications during follow up. These preliminary positive results advocate the application and suitability of Amplatzer Vascular Plug IV for closing wind-sock-like perimembranous ventricular septal defects.

Chest pain due to coronary artery compression in an adult with CHD.

A 47-year-old with repaired ventricular septal defect and pulmonary valve stenosis as a child presents with chronic intermittent chest pain. CT evaluation for transcatheter pulmonary valve replacement revealed right coronary artery compression between a sternal wire and dilated right ventricle. Removal of the sternal wire resulted in improved symptoms.

Differential Clubbing and a Triad of Patent Ductus Arteriosus, Ventricular Septal Defect and Supravalvular Ring Mitral Stenosis: A Case Report.

It is not uncommon for congenital heart defects to occur in clusters. Those involving a right to left heart shunt commonly cause cyanosis and finger clubbing. Differential clubbing involving only the lower limb digits is a strong pointer to the presence of patent ductus arteriosus with reversal of shunt. We report a case of 25-year-old man with effort intolerance and differential clubbing. He was found to have the uncommon triad of patent ductus arteriosus, ventricular septal defect and supravalvular ring mitral stenosis. The presence of differential clubbing on a background of patent ductus arteriosus usually indicates a reversal of shunt and negates surgical intervention. This general rule may however not apply with co-existing mitral stenosis as the elevated pulmonary pressure may be predominantly post-capillary. The finding of mitral stenosis in a patient with patent ductus arteriosus and differential limb clubbing may signify a good prognostic surgical outcome.

Il n'est pas rare que des malformations cardiaques congénitales surviennent en clusters. Celles impliquant un shunt cardiaque droitegauche provoquent souvent une cyanose et un hippocratisme digital. L'hippocratisme digital différentiel touchant uniquement les orteils des membres inférieurs est un indicateur fort de la présence d'un canal artériel persistant avec inversion du shunt. Nous rapportons le cas d'un homme de 25 ans présentant une intolérance à l'effort et un hippocratisme digital différentiel. Il a été diagnostiqué avec la triade peu commune de canal artériel persistant, de communication interventriculaire et de sténose mitrale à anneau supravalvulaire. La présence d'un hippocratisme digital différentiel sur un fond de canal artériel persistant indique généralement une inversion du shunt et exclut une intervention chirurgicale. Cependant, cette règle générale peut ne pas s'appliquer en présence d'une sténose mitrale concomitante, car la pression pulmonaire élevée peut être principalement post-capillaire. La découverte d'une sténose mitrale chez un patient atteint de canal artériel persistant et d'un hippocratisme digital différentiel peut indiquer un bon pronostic pour l'intervention chirurgicale.

Echocardiographic Comparison of Left Ventricular Systolic Function and Aortic Blood Flow Velocimetry in Children with Ventricular Septal Defect.

BACKGROUND: The assessments of left ventricular (LV) longitudinal systolic dynamics in children with ventricular septal defect (VSD) have achieved a major milestone in the evaluation of LV systolic function. OBJECTIVES: This study aims to evaluate the LV function, LV mass (LVM), and the descending aorta blood flow in children with VSD compared to that obtained in age and sex-matched controls. RESULTS: The mean LVM of the control, 113.5 ± 123.9 was higher than that of those who had VSD, 75.8 ± 83.9, and the difference in mean was found to be statistically significant (Mann-Whitney U = 2.322, P = 0.022). The mean EF of the control, 67.9 ± 10.3 was comparable to that of those with VSD, 65.6 ± 13.9, (Student's t = 1.223, P = 0.223). Similarly, the mean descending aorta blood flow of control, 1.6 ± 2.2 was comparable to that of those with VSD, 3.9 ± 16.1, (Mann-Whitney U = 1.002, P = 0.321). There was a very weak positive correlation between LVM and descending aorta blood flow among the subjects (n = 85, r = 0.117, P = 0.425). There was a very weak negative correlation between LVM and descending aorta blood flow among control. (n = 85, r = -0.065, P = 0.609). CONCLUSION: The LVM among children with VSD is lower than controls but there is no difference between LV function in subjects and controls. There is a linear increase of LVM with descending aorta blood flow.

The dimethadione-exposed rat fetus: an animal model for the prenatal ultrasound characterization of ventricular septal defect.

BACKGROUND: Ventricular septal defect (VSD) is the most prevalent congenital heart disease (CHD) and is easily misdiagnosed or missed. An appropriate VSD animal model could be used to analyze the ultrasound characteristics and their related pathological bases, and provides the opportunity to further explore the pathogenesis of VSD. Currently, little is known about whether ultrahigh-frequency ultrasound biomicroscopy (UBM) is suitable to diagnose VSD of fetal rats. There is no research on whether a dimethadione (DMO)-induced fetal VSD model is suitable for the observation and analysis of imaging characteristics and the associated pathological basis. METHODS: We used DMO to induce VSD. UBM was used to perform the prenatal ultrasound characterization. With the pathological results used as the gold standard, the ultrasound characteristics and their related pathological bases were analyzed. RESULTS: The incidence of VSD in the DMO group was 42.05% and 39.71% (diagnosed by UBM and pathology, respectively, P > 0.05). The prenatal ultrasound findings and pathological basis of various diseases, including isolated VSD, complex CHD containing VSD, and extracardiac lesions, were detected and discussed. It was discovered that some fetuses showed features of noncompacted ventricular myocardium, and for the first time, clusters of red blood cell traversing the cardiomyocytes. CONCLUSIONS: The DMO-induced VSD model is a low-cost model with a high success rate and is suitable for the observation and analysis of VSD. UBM is suitable for evaluating VSD.

How should preoperative examinations be chosen for infants with a ventricular septal defect: transthoracic echocardiography, cardiac CTA, or a combination of these two technologies?

OBJECTIVE: To evaluate the accuracy of transthoracic echocardiography (TTE) and cardiac computed tomography angiography (CTA) in detecting the size and location of ventricular septal defects (VSD) in infants. METHODS: Data from 258 infants diagnosed with VSD between January 2020 and December 2022 were retrospectively analyzed. All infants underwent both TTE and cardiac CTA. The accuracy of these imaging modalities was assessed by comparing their findings with intraoperative observations of VSD size and location. RESULTS: Intraoperatively, the average VSD size was 6.1 ± 2.5 mm. The defects were classified as committed VSD (Type 1) in 45 patients, noncommitted VSD (Type 2) in 198 patients, inlet VSD (Type 3) in 12 patients, and muscular VSD (Type 4) in 3 patients. Echocardiography estimated the average VSD size at 5.6 ± 2.7 mm, with 42 patients identified as Type 1, 203 as Type 2, 10 as Type 3, and 3 as Type 4. Cardiac CTA estimated the average size at 5.9 ± 3.2 mm, with 48 patients identified as Type 1, 196 as Type 2, 11 as Type 3, and 3 as Type 4. The accuracy rates of TTE and cardiac CTA in diagnosing VSD location were 98.1% and 98.8%, respectively. A survey of surgeons indicated that 80% believe both TTE and cardiac CTA are essential preoperative evaluations. CONCLUSIONS: TTE accurately diagnoses the size and location of VSD, while cardiac CTA serves as a valuable complementary method to TTE. Most surgeons advocate for the combined use of these examinations for preoperative assessment.

Undiagnosed sub-valvular aortic stenosis with an associated Ventricular Septal Defect (VSD) presenting late in a multi-parous woman.

BACKGROUND: Sub-valvular aortic stenosis is a rare disorder that has a prevalence of 6.5% of all adult congenital heart diseases. The hemodynamic changes that occur in pregnancy with the resultant increase in cardiac output may not well be tolerated by a pregnant woman with sub-valvular aortic stenosis. CASE PRESENTATION: We report the case of a 34-year-old para 7 (6 alive + 1 dead) who has been experiencing intermittent episodes of easy fatigability on moderate exertion since childhood and had survived 6 prior pregnancies. During her last pregnancy, she started experiencing chest pain, palpitations, dyspnea, orthopnea, and pre-syncope at 36 weeks and had a caesarean section at 37 weeks on account of fetal distress. The post-delivery cardiac evaluation showed severe sub-valvular Aortic stenosis and a ventricular septal defect. CONCLUSION: Sub-valvular Aortic stenosis may progress slowly in adults and may be tolerated during pregnancy. Despite the rare presentation and contraindication of pregnancy in such a patient, she extraordinarily survived the pregnancy with a healthy baby. Routine cardiovascular assessment during prenatal, ante-natal and post-natal care is highly advocated particularly so in resource-poor settings.

A case presentation of acquired membranous ventricular septum aneurysm as a rare delayed complication of ventricular septal defect repair surgery: 10-year follow-up.

BACKGROUND: Rare as membranous ventricular septal aneurysms (MVSA) is, the possibility that occurs after ventricular septum defect (VSD) repair surgery is even more uncommon. PRESENTATION: A girl developed a MVSA 3 years after the VSD repair surgery at the age of 1 and increasing growth was noted during the follow-up. Aneurysm plication was carried done when she was 11 years old because it was observed to have a close relationship to the right coronary and obstructed the right ventricular outflow tract. Postoperative echocardiography follow-up revealed no abnormalities. CONCLUSION: Though the prognosis of most patients with VSD repaired surgery was good, there remains varieties type of complications despite surgical advances. Accurate and rapid diagnosis of acute and delayed complications is essential to improve prognosis. In this case, the aneurysm was diagnosed by multiple imaging modalities and the girl underwent successful surgery again which provides direction for awareness and knowledge of delayed complications of VSD repair.

Application of Foley balloon catheter in palliative surgery for pulmonary atresia with an intact ventricular septem, with additional cases of pulmonary atresia with ventricular septal defect and tetralogy of Fallot.

BACKGROUND: Pulmonary atresia and tetralogy of Fallot can require palliative surgery in the neonatal period due to severe hypoxia; however, limitations of established techniques include high failure rate and need for cardiopulmonary bypass. Herein, right ventricular outflow tract reconstruction on a beating heart using a Foley balloon catheter is described. METHODS: A retrospective review of patients who underwent right ventricular outflow tract reconstruction on a beating heart using a Foley balloon catheter at our institution between September 2018 and March 2022 was completed. During the procedure, a Foley balloon catheter was used to occlude the blood from the right ventricular inflow tract. RESULTS: Eight patients with pulmonary atresia and intact ventricular septum underwent an off-pump right ventricular outflow tract reconstruction. One patient with pulmonary atresia and ventricular septal defect, and two patients with tetralogy of Fallot underwent an on-pump right ventricular outflow tract reconstruction on a beating heart. The procedures were successful in all patients. Patent ductus arteriosus ligation without modified Blalock-Taussig shunt placement was performed in three patients with pulmonary atresia with intact ventricular septum and two patients with tetralogy of Fallot, ductus arteriosus was left open in four patients with pulmonary atresia with intact ventricular septum. All patients remained clinically well without serious complications. CONCLUSIONS: Right ventricular outflow tract reconstruction on a beating heart using a Foley balloon catheter for pulmonary atresia and tetralogy of Fallot is a feasible alternative to catheter-based interventions or traditional surgical treatment, especially in patients with muscular infundibular stenosis or hypoplastic pulmonary annulus. Further studies with more cases are needed to verify feasibility and superiority of this approach.

Electrocardiographic characteristics of newborns with ventricular septal defects: a Copenhagen Baby Heart Study.

Ventricular septal defects (VSD) represent the most common congenital heart defect in newborns. We assessed the electrocardiographic characteristics of newborns with VSDs in a general population sample. The Copenhagen Baby Heart Study is a prospective population-based cohort study offering cardiac evaluation of newborns. Echocardiograms and electrocardiograms were obtained within 30 days after birth and systematically analysed. A VSD was identified in 530 newborns (mean age 11 ± 7 days, 42% boys). Newborns with VSDs had a more left-shifted QRS axis (116 ± 34 vs. 120 ± 3°, p = 0.02), and a higher S-wave amplitude in V1 (721 ± 584 vs. 636 ± 549 µV, p = 0.001) than controls. The largest differences were found in newborns with large or perimembraneous VSDs with a higher frequency of left axis deviation, higher S-wave amplitudes in V1, and higher R- and S-wave amplitudes in V6 compared with controls. R-waves in V1 and V6 were significantly associated to left ventricular mass, whereas S-waves in V1 and V6 were dependent on left ventricular end-diastolic diameter on echocardiography.  Conclusion: Newborns with VSDs showed significant differences in QRS axis, and R- and S-wave precordial amplitudes compared to matched controls. Perimembranous and large VSDs had the greatest effect on the neonatal ECG. What is Known: • Ventricular septal defects in newborns are prevalent and may affect cardiac function and structure. What is New: • The Copenhagen Baby Heart Study is the largest study including a cohort of unselected newborns undergoing postnatal cardiac examination. • We found that newborns with VSD showed significant electrocardiographic differences depending on size and type of VSD compared with healthy newborns.