心室中隔欠損を伴う肺動脈閉鎖症

OBJECTIVES: Pulmonary atresia with ventricular septal defect (PA-VSD) without major aortopulmonary collateral arteries is a rare congenital heart defect. Surgical management strategies include staged palliation or primary neonatal repair. We evaluated the midterm outcomes of neonatal primary repair in patients without MAPCAs. METHODS: A retrospective single-center analysis was performed of 31 neonates who underwent primary repair for PA-VSD without MAPCAs between 2005 and 2024. Primary outcomes included mortality, reintervention rates, and right ventricular (RV) function. RESULTS: Thirteen patients (41.9%) underwent urgent surgery and 18 (58.1%) underwent emergent surgery. Median weight at repair was 2.8 kg (interquartile range [IQR] 2.6-3.2). Overall survival was 96.8% (n = 30), with one mortality (3.2%) related to multi-organ failure. Postoperative RV function was normal in 25 patients (80.7%). Median follow-up for hospital survivors was 5.4 years (IQR 1.2-7.6). Freedom from surgical reoperation was 56.7%; 13 patients (43.3%) required reoperation, most commonly for RV-to-pulmonary artery conduit revision (n = 11). Catheter-based reinterventions were performed in 24 patients (80.0%). RV function remained preserved in 29 patients (96.7%) at last follow-up. CONCLUSIONS: Neonatal primary repair of PA-VSD without major aortopulmonary collaterals can be performed with excellent midterm survival and preserved right ventricular function. Reintervention, largely conduit-related, represents an anticipated component of longitudinal management rather than failure of the primary strategy.

Multimodality treatment with catheter-based intervention is still commonly used for pulmonary atresia with ventricular septal defect (PA/VSD) or hemi-truncus with major aortopulmonary artery collateral arteries (MAPCAs) requiring unifocalization. A total of 12 patients with PA/VSD with MAPCAs (n = 10) or hemi-truncus (n = 2) who had undergone unifocalization since 1994 were enrolled. The development of the central pulmonary artery (cPA) was absent in 2 patients, diminutive (< 2 mm) in 3, sizable (> 2 mm) in 5, and unilateral (hemi-truncus) in 2. Treatment strategy was determined according to the morphology of the central PA. VSD closure was not performed at the same time of unifocalization. The source of pulmonary blood flow from completion of unifocalization to VSD closure was either systemic to pulmonary artery shunt (SPS) or right ventricle-to-pulmonary artery (RV-PA) conduit. A total of 39 catheterizations were performed. Median follow-up was 13.2 years [interquartile range: 2.3-16.5 years]. All patients achieved VSD closure. Cumulative survival rate was 83.3% at 10 years. Median RV to aortic pressure (AoP) ratio during VSD closure was 0.57 [0.51-0.75]. After a patient with partial anomalous pulmonary venous connection and pulmonary hypertension was eliminated RV/AoP was lower in RV-PA conduit (n = 5) than in SPS cases (n = 6) (0.49 vs. 0.76, p = 0.014). RV-PA conduit as a source of pulmonary blood flow facilitates blood flow control and effective catheter-based intervention to reconstructed PA after unifocalization then contributed maintaining low RV pressure at VSD closure.

OBJECTIVE: This study aims to describe ductus arteriosus (DA) morphology in patients with pulmonary atresia with ventricular septal defect (PA-VSD) and to assess exploratory paired differences between echocardiography and digital subtraction angiography (DSA). This study was primarily descriptive and was not designed to establish diagnostic agreement, equivalence, or interchangeability between the two imaging modalities. MATERIALS AND METHODS: This retrospective descriptive case series was conducted at Children's Hospital 1, Ho Chi Minh City, Vietnam, from April 2024 to April 2025. Consecutive patients aged from birth to under 18 years with confirmed PA-VSD, a patent DA, and available echocardiography and DSA images adequately showing DA morphology were included. PA-VSD was confirmed by echocardiographic evidence of pulmonary atresia, a ventricular septal defect, and absence of antegrade flow from the right ventricle to the pulmonary arteries, with further verification by DSA and catheterization records. Patients with incomplete records, inadequate images, or cardiovascular anomalies substantially altering ductal anatomy were excluded. DA origin, orientation, number, and diameters at the aortic and pulmonary ends were retrospectively remeasured from archived images and independently assessed for each modality. Paired statistical tests were used to evaluate modality-related differences, and exact concordance was described for categorical findings. RESULTS: Thirty patients were included. The median age at admission was 92 days, and the median body weight was 3.6 kg. There were 20 female patients (66.7%) and 10 male patients (33.3%). PGE1 infusion was administered in 22 patients (73.3%). All patients had a single DA on both modalities. On echocardiography, DA origin was classified as the descending aorta in 16 patients (53.3%), the brachiocephalic artery in 11 patients (36.7%), and the subclavian artery in three patients (10.0%). On DSA, the DA origin was classified as the descending aorta in 15 patients (50.0%), the brachiocephalic artery in 12 patients (40.0%), and the subclavian artery in three patients (10.0%). The distribution of DA origin did not differ significantly between modalities (McNemar-Bowker test, χ² = 1.00, p = 0.608), but this result was not interpreted as evidence of agreement. Vertical orientation was observed in 17 patients (56.7%) on both modalities, with exact concordance for DA orientation and DA number. The mean aortic-end diameter was significantly larger on DSA than on echocardiography (3.86 ± 1.43 mm vs. 3.12 ± 0.97 mm; paired-samples t-test, t = 3.18, p = 0.001). The mean pulmonary-end diameter did not differ significantly between DSA and echocardiography (1.98 ± 0.83 mm vs. 2.18 ± 0.62 mm; t = 1.32, p = 0.198). CONCLUSIONS: DA morphology in PA-VSD was variable, with descending aortic origin and vertical orientation being common. Echocardiography and DSA showed similar categorical distributions for DA origin, orientation, and number, but these findings do not establish diagnostic agreement or interchangeability. DSA demonstrated larger aortic-end measurements, although the clinical impact of this difference on stent sizing, procedural success, or complications was not directly evaluated. Future studies should assess agreement, reproducibility, and procedural outcomes using standardized imaging protocols.

Pulmonary atresia with ventricular septal defect and systemic-to-pulmonary collateral supply is a severe conotruncal malformation characterized by complete right ventricular outflow tract obstruction, a large ventricular septal defect, and absence of a main pulmonary artery. Without surgical repair, survival into adulthood is rare and depends on the adequacy of collateral pulmonary blood flow. Pregnancy in women with unrepaired cyanotic congenital heart disease carries extreme maternal and fetal risk and is classified as modified World Health Organization class IV when resting oxygen saturation is below 85%. We report a 22-year-old woman at 32 weeks' gestation who presented with progressive dyspnoea, severe hypoxaemia (oxygen saturation 74%), and heart failure. Echocardiography demonstrated a large perimembranous ventricular septal defect and pulmonary atresia. Cardiac computed tomography confirmed an overriding aorta, non-confluent pulmonary arteries arising from the descending thoracic aorta and aortic arch, and absence of a main pulmonary trunk, establishing the diagnosis of pulmonary atresia with ventricular septal defect and systemic-to-pulmonary collateral supply. She underwent caesarean delivery for maternal decompensation, complicated by postpartum haemorrhage requiring hysterectomy. Ten days postpartum, she developed an acute ischaemic stroke. Telemetry excluded atrial fibrillation, and imaging showed no intracardiac thrombus. She improved with antiplatelet therapy and supportive care and remained clinically stable at six-month follow-up. This case highlights the rare survival of unrepaired complex cyanotic congenital heart disease into adulthood, the extreme risks of pregnancy in this setting, and the need for preconception counselling, multidisciplinary management, and vigilant postpartum thromboembolic risk assessment, particularly in resource-limited settings.

BACKGROUND: Patients with pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (PA/VSD/MAPCAs) have markedly enlarged aortas compared with standard control subjects. Previous studies have suggested that aortic enlargement may be attributable to a combination of increased flow and intrinsic aortopathy. We hypothesized that aortic sizes in patients with PA/VSD/MAPCAs would correlate with the ratio of pulmonary to systemic blood flow (Qp/Qs) values. METHODS: This was a retrospective review of 169 patients with PA/VSD/MAPCAs who underwent a surgical procedure. Echocardiographic studies were reviewed to assess aortic root size and z-scores. The Qp/Qs values were gleaned from preoperative cardiac catheterization. Patients were divided into 3 subgroups: single-stage complete repair, unifocalization and shunt, and aortopulmonary window. RESULTS: Median age at surgery was 6.1 months for the single-stage complete repair group, 5.9 months for the unifocalization and shunt group, and 1.9 months for the aortopulmonary window group. Patients who underwent a single-stage complete repair had higher Qp/Qs values (1.78 vs 0.94, 0.93; P < .001), higher absolute aortic root measurements (1.95 cm vs 1.66, 1.52; P < .05), and higher aortic root z-scores (5.81 vs 1.10, 2.92; P < .01) compared with patients who underwent unifocalization and shunt procedure and aortopulmonary window procedures. However, within each subgroup there was no correlation between Qp/Qs and either aortic root size or aortic root z-scores. CONCLUSIONS: The data demonstrate that there were 3 distinct anatomic and physiologic patterns for the 3 subgroups. Within each subgroup, no correlation was found between Qp/Qs and either aortic root size or z-score. These results suggest that incremental increases in flow do not result in additional increases in aortic size.