Functional total anomalous pulmonary venous connection via levoatriocardinal vein.

We report a fetal case of double outlet right ventricle, mitral atresia, and intact atrial septum. Although the pulmonary veins were connected to the left atrium, pulmonary venous blood drained into the right superior vena cava via the stenotic levoatriocardinal vein (LACV), which resulted in a circulation resembling total anomalous pulmonary venous connection (TAPVC) with pulmonary venous obstruction. Since the pulmonary veins were connected to both the stenotic LACV and the "dead-end" left atrium, the pulmonary venous flow had a to-and-fro pattern along with atrial relaxation and contraction. Postnatal echocardiography and computed tomography confirmed the diagnosis of normally connected but anomalously draining pulmonary veins via the LACV. Surgical creation of an atrial septal defect on the day of birth successfully relieved pulmonary venous obstruction. Normally connected but anomalously draining pulmonary veins via the LACV should be considered for TAPVC differential diagnosis in fetuses with a left-side heart obstruction.

Congenital Pulmonary Vein Stenosis: Encouraging Mid-term Outcome.

Congenital pulmonary vein stenosis (PVS) is a rare entity with limited outcome literature. Multiple interventional approaches have evolved including surgical and catheterization techniques. Our objective is to report our center experience and to compare short-term and mid-term outcomes among these therapeutic modalities. Retrospective study on 23 patients (n = 23) with PVS that required intervention over the last 13 years (2000-2013). Patients were divided into three groups based on type of initial intervention. Of these, 10 (43.5%) had balloon angioplasty, 3 (13.0 %) had surgical dilation, and 10 (43.5%) had surgical marsupialization. Mortality and number of re-interventions were our primary outcomes. Mean age at diagnosis was 10.9 ± 18.4 months. Mean age at initial intervention was 14.5 ± 18.0 months. Mean pre- and post-initial intervention PVS gradients were 9.2 ± 3.4 and 3.4 ± 2.2 mmHg, respectively. Mean survival time and re-intervention-free survival time were 4.8 ± 4.0 and 2.8 ± 3.4 years. No statistical significance was found between the interventions with respect to survival time (p = 0.52) and re-intervention free time (p = 0.78). High initial pre- and post-intervention gradients were significantly associated with re-intervention-free survival (p = 0.01 and p = 0.03, respectively). Patients with bilateral disease have increased mortality (p = 0.01) and decreased 5-year survival (p = 0.009) compared to patients with unilateral disease irrespective of type of intervention. No statistically significant difference in mortality or re-intervention rate was present among these different therapeutic modalities. This study has the longest follow-up so far reported in the current literature (58 months) with overall survival of 78%.

Total anomalous pulmonary venous connection with ccTGA and VSD: Can pulmonary artery banding avert pulmonary venous obstruction?

We describe a rare case of infracardiac total anomalous pulmonary venous connection (TAPVC), associated with congenitally corrected transposition of the great arteries (ccTGA) and ventricular septal defect, in which the patient had undergone pulmonary artery banding (PAB) at 16 days of age. She began to have episodes of severe cyanosis while crying, 2 weeks after PAB. Cardiac catheterization at 34 days of age showed severe pulmonary hypertension and a transhepatic pressure gradient of 7 mmHg. The infant underwent TAPVC repair and conventional repair for ccTGA at 35 days of age. Although PAB might have the provisional effect of delaying the manifestation of pulmonary venous obstruction (PVO), it is unable to prevent the development of PVO due to the high resistance of the hepatic sinusoids. Signs of PVO should be closely monitored so that TAPVC can be repaired in a timely fashion.

MRI shows limited mixing between systemic and pulmonary circulations in foetal transposition of the great arteries: a potential cause of in utero pulmonary vascular disease.

OBJECTIVES: To investigate the relationship between foetal haemodynamics and postnatal clinical presentation in patients with transposition of the great arteries using phase-contrast cardiovascular magnetic resonance. BACKGROUND: A severe and irreversible form of persistent pulmonary hypertension of the newborn occurs in up to 5% of patients with transposition and remains an important cause of morbidity and mortality in these infants. Restriction at the foramen ovale and ductus arteriosus has been identified as a risk factor for the development of pulmonary hypertension, and this can now be studied with magnetic resonance imaging using a new technique called metric optimised gating. METHODS: Blood flow was measured in the major vessels of four foetuses with transposition with intact ventricular septum (gestational age range: 35-38 weeks) and compared with values from 12 normal foetuses (median gestational age: 37 weeks; range: 34-40 weeks). RESULTS: We found significantly reduced flows in the ductus arteriosus (p<0.01) and foramen ovale (p=0.03) and increased combined ventricular output (p=0.01), ascending aortic (p=0.001), descending aortic (p=0.03), umbilical vein (p=0.03), and aorto-pulmonary collateral (p<0.001) flows in foetuses with transposition compared with normals. The foetus with the lowest foramen ovale shunt and highest aorto-pulmonary collateral flow developed fatal pulmonary vascular disease. CONCLUSIONS: We found limited mixing between the systemic and pulmonary circulations in a small group of late-gestation foetuses with transposition. We propose that the resulting hypoxia of the pulmonary circulation could be the driver behind increased aorto-pulmonary collateral flow and contribute to the development of pulmonary vascular disease in some foetuses with transposition.

Congenital narrowing of a pulmonary vein: slit-like pulmonary vein ostium.

We report the case of a 60-year-old female with a history of refractory paroxysmal atrial fibrillation. Preablation contrast enhanced pulmonary vein computed tomography (CT) scan demonstrated a slit-like narrowing of the left inferior pulmonary vein ostium. The narrowing measured approximately 3 mm, with poststenotic dilation. The patient had no prior history of ablation. The patient subsequently underwent segmental antral isolation of all four pulmonary veins and cavo-tricuspid isthmus ablation with bidirectional block. The diagnosis of preexisting congenital pulmonary vein stenosis had an impact on the type of ablation procedure performed (antral rather than ostial) and will affect the interpretation of postablation CT scans.

Congenital pulmonary vein stenosis in an adult patient treated with transcatheter balloon angioplasty.

Congenital pulmonary vein stenosis (PVS) is a very rare cardiac malformation and commonly associated with cardiac or extracardiac abnormalities. It is usually found during the newborn period and survival to maturity is very rare due to either of progressive pulmonary hypertension or associated cardiac anomalies. In this case report, an adult patient with congenital PVS that was incidentally found during an evaluation for pneumonia, was treated with balloon angioplasty. After balloon angioplasty, the pressure gradient between the stenotic pulmonary vein and left atrium was significantly reduced and this patient had a benign course during the routine follow-up. Although there is no consensus concerning the optimal treatment strategy for this anomaly, balloon angioplasty can be a reasonable therapeutic option for the palliation of adult congenital PVS.

Isolated congenital left-sided pulmonary vein stenosis in an adult patient misdiagnosed as primary pulmonary hypertension.

Pulmonary vein stenosis (PVS) is a rare condition, seen usually in association with congenital heart disease or secondary to various acquired causes. Isolated PVS, in adults, especially in absence of congenital heart disease is extremely uncommon. We report PVS of left sided pulmonary veins in an 18-year-old male, who had been till then diagnosed as primary pulmonary hypertension (PPH).

Total anomalous pulmonary venous drainage complicated by tracheoesophageal fistula.

We provided emergency treatment to a 1-day-old neonate (1600 g) with tracheoesophageal fistula (gross classification, type C) and total anomalous pulmonary venous drainage (infracardiac type) complicated by pulmonary venous obstruction. Emergency surgery was required because the tracheoesophageal fistula would have caused respiratory failure. Here we report the perioperative management techniques we used, including the surgical strategy.

Serum levels after everolimus-stent implantation and paclitaxel-balloon angioplasty in an infant with recurrent pulmonary vein obstruction after repaired total anomalous pulmonary venous connection.

Everolimus-eluting stents and paclitaxel-coated balloons are used in the interventional treatment of coronary artery disease in adults to reduce the restenosis rate and in small-vessel disease. Both substances are released into the circulation. We report systemic drug exposure after implantation of one everolimus-eluting stent and dilation with one paclitaxel-coated balloon in an 8-month-old infant, which was used as an innovative therapy for recurrent pulmonary vein stenosis.

A 24-Year-Old Woman With Dyspnea, Chest Pain, and Dry Cough.

CASE PRESENTATION: A 24-year-old woman, a baby-sitter with no known comorbidities, presented to the outpatient department with complaints of modified Medical Research Council grade IV breathlessness for 3 months, chest pain, and dry cough for 2 weeks. There was no known disease history, including respiratory, flu-like illness, or connective tissue disorder. There was no use of chemotherapeutic, oral contraceptive drugs, exposure to toxic substances, or smoking. A review of systems was negative for fever, arthralgia, myalgia, Raynaud phenomenon, skin thickening, rash, or leg swelling. The patient had no family history suggestive of a genetic syndrome.

Comparison of conventional and cutting balloon angioplasty for congenital and postoperative pulmonary vein stenosis in infants and young children.

BACKGROUND: Pulmonary vein stenosis (PVS) is a rare and often lethal condition in children. The optimal treatment for congenital and postoperative PVS is unknown. METHODS AND RESULTS: We compared outcomes of conventional balloon angioplasty performed for PVS from 1999 to 2003 against cutting balloon angioplasty performed from 2004 to 2007. A total of 100 previously undilated pulmonary veins in 54 patients were studied: 48 veins dilated with conventional balloons and 52 with cutting balloons. Acute results included significantly reduced gradients and increased lumen diameters with both treatments. Acutely, cutting balloon angioplasty and conventional angioplasty yielded similar relative reduction of the PVS gradient (median 78% vs. 63%, P = 0.08) and increase in lumen diameter (median 77% vs. 59%, P = 0.07). There was one procedural death of a critically ill infant, and four cardiac arrests, but no adverse events necessitating surgical intervention. Survival free from reintervention was poor in both groups, and shorter in the cutting balloon group (73% at 1 month, 11% at 6 months, and 4% at 1 year) than in the conventional angioplasty group (77% at 1 month, 35% at 6 months, and 23% at 1 year; P = 0.01). CONCLUSIONS: Both conventional and cutting balloon angioplasty were effective at decreasing gradient and increasing lumen size acutely in patients with congenital and postoperative PVS, but reintervention was common with both treatments. Both methods of angioplasty provided limited benefit, and neither was curative for this complex disease.

Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.

INTRODUCTION AND OBJECTIVES: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course. METHODS: Observational study of Romani patients with familial PVOD included in the Spanish Registry of Pulmonary Arterial Hypertension. Genetic screening of EIF2AK4 was performed in index cases and relatives between November 2011 and July 2016 and histological pulmonary examination was carried out in patients who received a lung transplant or died. The patients were divided into 2 groups depending on their tolerance to PVD, with comparison of baseline characteristics and survival free of death or lung transplant. RESULTS: Eighteen Romani patients were included: 9 index cases and 9 relatives. The biallelic founder mutation in EIF2AK4 was found in all affected cases and 2 unaffected relatives. Family screening showed 34.2% of healthy heterozygotes, high consanguinity, young age at childbirth, and frequent multiparity. Prognosis was bleak, with significant differences depending on tolerance to PVD. CONCLUSIONS: We describe 2 phenotypes of hereditary PVOD depending on tolerance to PVD, with prognostic impact and familial distribution. Consanguinity may have a negative impact on the transmission of PVOD, with familial genetic screening showing high effectiveness.

Primary pulmonary vein stenosis.

Primary pulmonary vein stenosis (PVS) is a rare entity with a high mortality rate. Relatively little is known regarding predictors of outcome or the appropriate timing of intervention. The Pediatric Cardiac Care Consortium database (n = 98,126) was searched for patients who had undergone cardiac catheterization or surgical procedures with primary diagnoses of PVS or atresia from 1982 to 2002. Patients with total or partial anomalous pulmonary venous return, cor triatriatum, previous atrial switch, or previous lung transplantation were excluded. Additional data were obtained through questionnaires sent to each Pediatric Cardiac Care Consortium institution. A total of 31 patients were identified with primary PVS. Excluding lung transplantation, 16 of 31 patients underwent intervention to relieve PVS. Univariate predictors of lung death, defined as death or lung transplantation, included younger age at diagnosis (16.2 vs 52.5 months, p = 0.0221), higher initial mean pulmonary arterial pressure (46.4 vs 26.8 mm Hg, p = 0.0003), and bilateral vessel involvement (lung death in 17 of 19 vs 0 of 9 patients, p <0.0001). Patients diagnosed at 18 months of age and those with initial mean pulmonary arterial pressures >33 mm Hg had incidences of lung death of 76% and 88%, respectively. In conclusion, primary PVS carries a high mortality rate despite attempts at palliation. Patients diagnosed at 18 months of age, having initial mean pulmonary arterial pressures >33 mm Hg, or with bilateral vessel involvement are at significantly increased risk for death or lung transplantation. In these high-risk groups, death occurs rapidly despite intervention, and lung transplantation should be an early consideration.

Congenital pulmonary vein stenosis.

A case of a newborn infant is described who presented with severe cyanosis at birth with rapid deterioration. The infant died at six hours of life. The diagnosis was determined at autopsy as congenital pulmonary vein stenosis.

Validation of pulmonary venous obstruction by electron beam computed tomography in children with congenital heart disease.

The purpose of this study was to explore the useful imaging findings of electron beam computed tomography (EBCT) for diagnosing pulmonary venous obstruction (PVO) in children with congenital heart disease. From July 1995 to March 1998, 17 children (9 girls and 8 boys, aged 7 days to 14 years and 9 months [median 3 months]) with the diagnosis of PVO were enrolled in this study. All images were obtained by EBCT at the end-diastolic phase of the cardiac cycle after administration of intravenous iodinated contrast medium. The findings of 25 EBCT studies were retrospectively analyzed by 2 radiologists and were correlated with echocardiography, angiocardiography, and surgical findings. Main findings on EBCT for PVO were (1) structural narrowing, (2) thickened interlobular septa, (3) peribronchovascular cuffing, and (4) ground-glass opacity of the alveoli. Structural narrowing along the course of the pulmonary venous drainage was the most important finding in all examinations (25 of 25). Lung parenchymal changes secondary to PVO included thickened interlobular septa (17 of 25), peribronchovascular cuffing (15 of 25), and ground-glass opacity of the alveoli (8 of 25). Thus, the combination of these findings provides very useful data for the definitive diagnosis of PVO. Characteristic electron beam computed tomographic findings can validate suspected PVO noninvasively.

Hypoplasia of the small pulmonary arteries in total anomalous pulmonary venous connection with obstructed pulmonary venous drainage.

OBJECTIVE: Preoperative pulmonary venous obstruction has been reported to be a risk factor negatively impacting survival in total anomalous pulmonary venous connection. We examined lung tissue from total anomalous pulmonary venous connection patients with pulmonary venous obstruction and demonstrated hypoplasia of small pulmonary arteries to elucidate the mechanism underlying the poor outcome. METHODS: Ten total anomalous pulmonary venous connection patients with preoperative pulmonary venous obstruction between the ages of 2 days and 10 months were studied. As histological parameters, we assessed the size of small pulmonary arteries in relation to the size of accompanying bronchioles to identify small pulmonary artery underdevelopment. Other parameters, such as the radial alveolar count, which reflects alveolar maturity, intimal lesions, lymphangiectasia, and the medial thickness of small pulmonary arteries and small pulmonary veins, were also examined. As a control group, we examined 24 autopsy cases with no congenital heart or pulmonary disease. RESULTS: When the radius of the accompanying bronchiole was 100 microm, the radius of small pulmonary artery in the control group was found to enlarge for the first 2 months and then remain stable at approximately 80 microm from 2 to 10 months. In total anomalous pulmonary venous connection with preoperative pulmonary venous obstruction, the radius was significantly lower than in the control (47.0 +/- 21.8 microm versus 75.9 +/- 9.8 microm, P <.001), and the difference between dead and surviving patients was significant at P <.001 (33.0 +/- 14.6 microm versus 68.2 +/- 9.2 microm). Examination of the alveoli yielded an radial alveolar count of 4.6 +/- 1.5 in the control group and 4.4 +/- 0.8 in the total anomalous pulmonary venous connection patients, and the difference was not significant (P =.71). CONCLUSIONS: The small pulmonary arteries of total anomalous pulmonary venous connection patients with preoperative pulmonary venous obstruction were underdeveloped compared with controls but their alveolae were not hypoplastic. These results suggested that the small pulmonary artery hypoplasia may be responsible for the poor outcome of these patients.

Congenital pulmonary vein stenosis associated with cor triatriatum.

We report an 11-year-old boy who underwent surgical correction for stenosis of the right and left lower pulmonary veins at their junction with the left atrium and associated cor triatriatum. The embryology and therapeutic approaches to congenital pulmonary veins stenosis are discussed.

Repair of congenital and acquired pulmonary vein stenosis.

BACKGROUND: Congenital pulmonary vein stenosis is a rare cause of obstruction of pulmonary venous blood flow with a high mortality. Acquired pulmonary vein stenosis is an equally serious condition. METHODS: Eight patients (age range, 3 months to 43 years; median age, 1.5 years) underwent surgical relief of pulmonary vein stenosis. Two had congenital pulmonary vein stenosis, 5 had pulmonary vein stenosis that was acquired after surgical treatment of total anomalous pulmonary venous connection, and 1 had pulmonary vein stenosis associated with idiopathic mediastinal fibrosis and calcification. RESULTS: One infant died 2 months after correction of acquired pulmonary vein stenosis. At follow-up extending to 16 years (median follow-up, 6.5 years), 6 patients are in New York Heart Association functional class I, and 1 patient is in class II. CONCLUSIONS: In view of the dismal natural history of untreated pulmonary vein stenosis, prompt surgical relief of the stenosis may be a rewarding undertaking.

Repair of total anomalous pulmonary venous connection without cardiopulmonary bypass.

Two infants with asplenia syndrome and pulmonary venous obstruction underwent repair of total anomalous pulmonary venous connection without cardiopulmonary bypass in 1988. Using a side-biting clamp, an anastomosis between the left upper pulmonary vein and left superior vena cava-atrial junction was satisfactorily created without undue instability. Furthermore, both cases had the advantage of efficient growth in the anastomotic site postoperatively.

Late results of palliative atrial switch for transposition, ventricular septal defect, and pulmonary vascular obstructive disease.

BACKGROUND: Palliative atrial switch (PAS) procedures that reroute pulmonary and systemic venous drainage and leave a ventricular septal defect (VSD) open have been used in the treatment of deeply cyanotic patients who have severe pulmonary vascular obstructive disease (PVOD). Palliative atrial switch is beneficial for patients with transposition of the great arteries or other complex lesions with VSD who show higher arterial oxygen saturation in the pulmonary artery than in the aorta (transposition hemodynamics/unfavorable streaming). We reviewed the early and late results of PAS (Mustard, n = 25; Senning, n = 3) in patients at two institutions. METHODS: Between April 1965 and March 2000, PAS was performed in 28 cyanotic patients (18 male, 10 female). Median age was 10 years (range, 1 to 27). Mean preoperative pulmonary arterial pressure was 68 mm Hg (range, 30 to 121 mm Hg). Mean systemic arterial oxygen saturation was 65% (range, 47% to 80%). The majority of patients (95%) were in New York Heart Association (NYHA) functional class III or IV preoperatively. RESULTS: Overall early mortality was 21%; for patients after 1972 (n = 23), the early mortality was 8.7%. Mean follow-up was 8.3 years (maximum 20). Mean postoperative systemic arterial oxygen saturation was increased significantly to 88% (p < 0.0001). Late survival for early survivors at 5, 10, and 15 years respectively was 84% (59%, 97%), 64% (39%, 88%), and 54% (15%, 72%). The NYHA functional class was significantly improved; 94% of late survivors (n = 17) were in functional class I or II (p = 0.002). CONCLUSIONS: The PAS operation significantly improves systemic arterial oxygen saturation and quality of life in selected patients with transposition hemodynamics, VSD, and severe PVOD.