Prenatal diagnosis of hepatopulmonary fusion: a case report and review of literature

Introduction: Hepatopulmonary fusion (HPF) is a rare anomaly specifically associated with right-sided congenital diaphragmatic hernia (CDH). Fewer than 50 cases of HPF have been reported, most at the time of surgery or postmortem with an associated high morbidity and mortality rate. Prenatal diagnosis and optimal management of these rare cases have not been established. Case Presentation: We present a case of HPF diagnosed prenatally by fetal ultrasound and magnetic resonance imaging allowing postnatal and intraoperative planning leading to successful HPF separation and repair of the CDH. Discussion: The prenatal recognition allowed the use of preoperative computed tomography angiogram and right cardiac catheterization to plan the surgical approach. Intraoperative ultrasound confirmed abnormal vasculature associated with the HPF facilitating a successful complete HPF separation and CDH repair was performed. The patient survived and continues to do well on long-term follow-up. Prenatal recognition may help reduce the high morbidity and mortality associated with HPF.

Hepatopulmonary fusion (HPF) is a rare comorbidity of right-sided congenital diaphragmatic hernia (CDH). The mortality rate of CDH with HPF is high, and the optimal approach and timing for surgical intervention remain unclear. Previous studies have reported the importance of avoiding massive intraoperative bleeding, managing pulmonary hypertension, and evaluating abnormal vascular communication in the management of CDH with HPF. However, airway involvement has rarely been documented. Here, we report a case of tracheobronchomalacia (TBM) following a two-stage surgical approach to treat CDH with HPF. The patient was diagnosed with right-sided CDH during gestation. CDH repair was attempted on day of life (DOL) 2. HPF was found intraoperatively, but was left unseparated to avoid massive bleeding. After excluding abnormal vascular communication on computed tomography, a second surgery was performed on DOL 28. HPF was successfully separated, and the right thoracic and abdominal cavities were separated using a polytetrafluoroethylene patch. The patient was extubated on DOL 41, but from DOL 80, the patient started to have cyanotic spells after crying. Because noninvasive positive airway pressure was not effective in preventing these cyanotic spells, a tracheostomy was performed on DOL 133. The results of postoperative bronchoscopy were consistent with TBM. The patient was discharged on home mechanical ventilation and was maintained in a stable respiratory condition. Evaluating pre-and postsurgical anatomical and physiological characteristics is critical in managing CDH with HPF. Our case highlights the importance of assessing airway involvement in such patients.

Hepatopulmonary fusion is an uncommon malformation associated with right-sided congenital diaphragmatic hernia. We are presenting a case of a full-term male newborn, who was diagnosed with right sided congenital diaphragmatic hernia. During the surgical procedure, hepatopulmonary fusion was incidentally detected. We aimed to describe a patient clinical manifestation, intraoperative finding and the management dilemma.

A unique case of hepatopulmonary fusion in congenital diaphragmatic hernia causing pulmonary hypoplasia in a newborn: A case report study

To systematically investigate the impact of the location of the defect in congenital diaphragmatic hernia on neonatal mortality and morbidity with a special focus on survival at discharge, extracorporeal membrane oxygenation requirement, and the development of chronic lung disease. Retrospective tertiary care center study with a matched-pair analysis of all fetuses that were treated for congenital diaphragmatic hernia between 2004 and 2009. A specialized tertiary care center for fetuses with congenital diaphragmatic hernia. Complete sets of data were available for 106 patients with congenital diaphragmatic hernia. For 17 of 18 infants with right-sided congenital diaphragmatic hernia we were able to allocate infants with left-sided congenital diaphragmatic hernia with no relevant difference in previously described prognostic factors, such as pulmonary hypoplasia and liver herniation. None. There was a strong trend toward better survival in infants with right-sided congenital diaphragmatic hernia than with left-sided congenital diaphragmatic hernia (94% vs. 70%; p = .07). More neonates with left-sided congenital diaphragmatic hernia died of severe pulmonary hypertension despite extracorporeal membrane oxygenation. Fewer neonates with right-sided congenital diaphragmatic hernia died, yet higher degrees of pulmonary hypoplasia and oxygen requirement were observed despite extracorporeal membrane oxygenation. In congenital diaphragmatic hernia, the location of the defect has a substantial impact on postnatal survival and the development of chronic lung disease. In left-sided congenital diaphragmatic hernia, pulmonary hypertension resistant to therapeutic management, including extracorporeal membrane oxygenation, is more common and is associated with a higher rate of neonatal demise. Right-sided congenital diaphragmatic hernia infants have an increased benefit from extracorporeal membrane oxygenation but the better survival entails a higher rate of chronic lung disease.

Multidetector computed tomography evaluation of secondary hepatopulmonary fusion in a neonate

Introduction Hepatopulmonary fusion is a very rare finding associated with right-sided congenital diaphragmatic hernia. With less than 50 reported cases, management and outcomes of hepatopulmonary fusion are poorly understood. This report highlights that clinical presentation is not a reliable indicator of outcomes in this rare disease. Case Presentation. A term neonate admitted for tachypnea and complete opacification of the right hemithorax was diagnosed with right-sided congenital diaphragmatic hernia. Preoperative respiratory support was minimal, and the only symptom exhibited was tachypnea. During surgical repair, fusion of the lung and liver were noted, consistent with a diagnosis of hepatopulmonary fusion. Postoperatively, the patient's pulmonary hypertension worsened and required extracorporeal membrane oxygenation. Conclusions Many patients with hepatopulmonary fusion and only mild symptoms die postoperatively from severe pulmonary hypertension and progressive respiratory failure. Preoperative clinical status is not indicative of postoperative outcomes, and literature suggests that patients who require less support preoperatively have high mortality rates. The availability of ECMO for postoperative complications may be necessary in patients requiring repair of hepatopulmonary fusion.

Congenital diaphragmatic hernia (CDH) is a congenital anomaly involving the herniation of intra-abdominal contents into the thoracic cavity. Hepatopulmonary fusion (HPF), an exceedingly rare subtype mainly associated with right-sided CDH,...

Sources: (1) Poley MJ, Elly AS, Tibboel D, et al. The cost-effectiveness of treatment for congenital diaphragmatic hernia. J Pediatr Surg. 2002;37:1245–1252. (2) Skari H, Bjornland K, Frenckner B, et al. Congenital diaphragmatic hernia in Scandinavia from 1995 to 1998: predictors of mortality. J Pediatr Surg. 2002;37:1269–1275.Two recent articles review the treatment and predictors of mortality for congenital diaphragmatic hernia (CDH). The Poley, et al article analyzed the “cost effectiveness” of neonatal surgery for congenital diaphragmatic hernia at the Sophia Children’s Hospital of Rotterdam, The Netherlands, for 168 patients who underwent CDH repair after 1969. (Of the original 285 patients who had the surgery, 24 could not be traced, 86 had died, and 7 were mentally disabled.) Patients born after 1996 were excluded to allow adequate follow-up periods. Outcome measures included hospital costs, loss of productivity, out-of-pocket expenses, and “quality adjusted years of life.” The total cost of treatment for these children averaged in excess of 42,000 Euro dollars (approximately 36,500 US dollars). Most costs were incurred with the initial hospitalization, and “productivity” losses for both parents and patients were minimal. CDH patients suffered from respiratory difficulties and abdominal pain, but quality of life did not differ between the population studied and the general population. These results suggest that CDH repair is cost-effective.A somewhat different perspective was reported in the Skari, et al article. The authors conducted a retrospective multicenter cohort review of mortality from CDH in 195 children treated for CDH in 12 of the 13 pediatric surgical centers in Scandinavia from 1995 through 1998. The overall hospital mortality from CDH was 30%. Of the 168 neonates presenting with symptoms in the first 24 hours of life, 35% (P=.001) died before discharge from the hospital and all these deaths occurred in children presenting with symptoms in the first 2 hours of life. Multi-variant analysis of these “early presenters” showed that predictors of increased risk of death included a prenatal diagnosis (Hazards Ratio [HR]=2.7 [95% CI, 1.4–5.4; P=.004]), right-sided congenital diaphragmatic hernia (HR=2.1 [95% CI, 1.03–4.2; P=.042]), and low 1-minute Apgar score (HR=.82 [95% CI, .73–.93; P=.001]).The authors found that prenatal diagnosis and right-sided congenital diaphragmatic hernia were significant independent predictors of total mortality. However, the increase in mortality for those children diagnosed prenatally may suggest a “hidden mortality” due to those fetuses (with diaphragmatic hernia) who expired in utero or following birth but before transfer to a pediatric surgical center.While these 2 articles may seem somewhat interesting in their own light, viewed in the current context of limited health care resources, the worrisome potential for care directives exists. Given that prenatal diagnosis and right-sided defects were demonstrated to be strong predictors for overall mortality, it is not difficult to hypothesize that groups with an economic interest in overall healthcare resource utilization might use this information for planning purposes. As such, transfer to a pediatric surgical center might be discouraged (or not “facilitated”) for those infants with a prenatal diagnosis of congenital diaphragmatic hernia until after birth, and early mortality adversely affected in “borderline” neonates as a result of withholding expensive treatment (ECMO). As advocates for the optimum health of every child, pediatric care providers at every level must resist external forces based on “cost-effectiveness” to dictate healthcare policy—especially in the vulnerable neonatal population.While previous reports of survival for CDH, which occurs in 1 out of every 5,800 live births, indicate about a 30–50% survival rate,1–2 the Skari, et al study examines mortality risk in more detail. In this study, mortality was restricted to neonates presenting with symptoms at <24 hours. These “early presenters” could additionally stratify3 into low, moderate and high-risk groups with a 17%, 53%, and 62% mortality rate, respectively. This study was limited by heterogeneity between centers, particularly in relation to differences in perinatal treatment strategies and the absence of a predetermined treatment protocol.

Hepatopulmonary fusion is a rare malformation that is often discovered during operative repair of right-sided congenital diaphragmatic defects. Based on a search using medical search engines, we only found 22 cases of hepatopulmonary fusion in the English literature worldwide to date. We describe herein a case of hepatopulmonary fusion with right-sided congenital diaphragmatic hernia in a female neonate who presented with respiratory distress. We discuss management of this case and review the relevant literature.

A rare case of hepatopulmonary fusion associated with a right congenital diaphragmatic hernia: Case report and review of the literature

To evaluate prenatal fetal imaging findings associated with survival to hospital discharge, persistent pulmonary hypertension (PH), and need for extracorporeal membrane oxygenation (ECMO) in fetuses with isolated congenital diaphragmatic hernia (CDH) that are undergoing prenatal expectant management. A systematic search was conducted in MEDLINE through PubMed, EMBASE, Web of Science, and The Cochrane Central, and ClinicalTrials.gov from 2000 up to July 2023. Studies that reported on prenatal imaging in fetuses with isolated CDH that were undergoing expectant management were included. Primary outcomes were survival to hospital discharge, persistent PH within 28 days of age, and need for ECMO. The quality of studies was assessed using the Newcastle-Ottawa Scale. Meta-analysis was performed when at least two studies reported on the same prenatal imaging evaluation. Subgroup analyses were performed according to the side (left or right) of CDH. A total of 161 full-text articles were assessed for eligibility, with 48 studies meeting the inclusion criteria: 45 (N=3,977) assessed survival, eight (N=994) assessed persistent PH, and 12 (N=2,085) assessed need for ECMO. The pooled proportion was 2,833 of 3,977 (71.2%, 95% CI, 69.8-72.6%) for survival, 565 of 2,085 (27.1%, 95% CI, 25.2-29.1%) for need for ECMO, and 531 of 994 (53.4%, 95% CI, 50.3-56.6%) for need for persistent PH. Prenatal imaging findings that were significantly associated with survival included: total fetal lung volume (mean difference [MD] 13.42, 95% CI, 11.22-15.62), observed-to-expected (O-E) total fetal lung volume less than 30% (odds ratio [OR] 0.09, 95% CI, 0.05-0.17), O-E total fetal lung volume (MD 14.73, 95% CI, 11.62-17.84, I 2 46%), liver/intrathoracic ratio (MD -9.59, 95% CI, -15.73 to -3.46), O-E lung/head ratio (MD 14.03, 95% CI, 12.69-15.36), O-E lung/head ratio less than 25% (OR 0.07, 95% CI, 0.04-0.13), mediastinal shift angle (MD -6.17, 95% CI, -7.70 to -4.64), stomach position in mid-chest (OR 0.14, 95% CI, 0.06-0.36), and intrathoracic liver (OR 0.23, 95% CI, 0.15-0.35). In subgroup analyses, findings for left-sided CDH remained significant in all the aforementioned findings. The only prenatal imaging finding that was significantly associated with persistent PH was intrathoracic liver (OR 1.96, 95% CI, 1.14-3.37), but this association was no longer significant in subgroup analyses. Prenatal imaging findings that were significantly associated with need for ECMO included: O-E total fetal lung volume (MD -10.08, 95% CI, -13.54 to -6.62), O-E lung/head ratio (MD -9.88, 95% CI, 14.44 to -5.33, I 2 30%), subgroup analysis to the left-sided CDH remained significant, percentage of predicted lung volume (MD -9.81, 95% CI, -13.56 to -6.06, I 2 34%), and intrathoracic liver (OR 2.70, 95% CI, 1.60-4.57, I 2 0%), but this association was no longer significant in left-sided CDH subgroup analysis. Several prenatal imaging findings, including lung measurements, intrathoracic liver, and stomach position, were predictive of neonatal survival. Lung measurement was predictive of need for ECMO, and intrathoracic liver was significantly associated with persistent PH and need for ECMO.

The features of right-sided congenital diaphragmatic hernias (RCDHs) are quite different from those of left-sided CDHs (LCDHs). We have summarized the features of RCDHs experienced in our institution. This retrospective study analyzed the cases of patients with CDH registered at our institution between 2011 and 2020. Defects on each side were compared based on prenatal diagnosis, medical treatment, type of surgery, and outcomes. A total of 101 patients underwent surgery at our institution during the neonatal period, and 11 had RCDHs. RCDHs and LCDHs were significantly different in terms of extracorporeal membrane oxygenation (36% vs. 6%, p = 0.002), patch repair (81% vs. 28%, p < 0.001), recurrence rate (36% vs. 11%, p = 0.022), and length of hospital stay (117days vs. 51days, p = 0.012). The severity of the fetal diagnosis did not reflect postnatal severity. All patients with RCDH survived to discharge, and there was no significant difference in survival rate between the right and left sides. Neonates with RCDH required more intensive treatments; however, the survival rate was comparable between RCDH and LCDH. RCDH was significantly different from LCDH and an optimal treatment strategy for RCDHs should be established.

We report on two cases of isolated right-sided congenital diaphragmatic hernia (CDH) in which the condition was first suspected due to ultrasound visualization of a horizontal orientation of the fetal stomach in the abdomen. In the first case, a 38-year-old woman, gravida 2 para 1, attended the ultrasound department of Valduce Hospital, Como at 13 weeks' gestation for a first-trimester scan. Fetal nuchal translucency thickness and anatomy appeared normal; however, an abnormal horizontal orientation of the fetal stomach was noted (Figure 1). At 20 weeks' gestation, a massive protrusion of the liver into the fetal chest was documented, leading to the diagnosis of isolated right-sided CDH. Moderate lung hypoplasia was demonstrated (observed to expected lung-to-head ratio was 41%, according to the longest diameter method)1. Antenatal findings were confirmed after birth and neonatal death occurred soon after delivery. In the second case, a 32-year-old woman, gravida 2 para 1, was referred to Bologna University Hospital at 24 weeks' gestation after amniocentesis revealed a mosaic karyotype (46,XY[8]/46,XX[3]/45,X[2]). On ultrasound, hypospadias was suspected and a horizontal orientation of the fetal stomach was also noted (Figure 2) in an otherwise normal male fetus. At the follow-up scan performed at 29 weeks, an upward displacement of the fetal liver was detected, leading to the diagnosis of right-sided CDH (Videoclip S1). Antenatal findings were confirmed after birth. Surgical correction was attempted, but the neonate died a few days after surgery. Right-sided CDH has a poor prognosis and a low prenatal detection rate2-4. The latter seems to be explained by a number of factors, including the similar sonographic appearance of the liver and lung, the lack of associated dextrocardia and, more importantly, the absence of intrathoracic herniation of the stomach, an important sonographic marker for left-sided CDH2, 5. Contrary to the perinatal outcome of left-sided CDH, the lack of intrathoracic stomach and bowel herniation typically seen in right-sided CDH does not confer a better prognosis5. As observed in our two cases, the horizontal orientation of the stomach in the abdomen may represent an indirect sonographic sign that could raise the suspicion of this condition. In both cases, the horizontal stomach was detected prior to the right-sided CDH itself, and based on this finding a further reassessment of fetal anatomy was scheduled at a later stage in gestation, resulting in unambiguous detection of the hernia. Horizontal orientation of the stomach in the early stages of this condition is biologically plausible and may be a result of the medial stretching of the hepatogastric ligaments (lesser omentum) caused by the rising of viscera through the diaphragm and consequent shifting of all anatomically connected structures. An interval of a few weeks between sonographic visualization of the horizontal stomach and the appearance of right-sided CDH in the fetus is not surprising, as clear visualization of the condition requires the intrathoracic herniation of a significant proportion of the liver, and in some cases this may not become apparent until the second half or later phase of gestation. These cases highlight the role of the horizontal stomach as an early sonographic indicator of CDH that could alert the caregiver to the need for fetal reassessment in order to exclude or confirm the presence of right-sided CDH. R. Conturso†, F. Giorgetta‡, F. Bellussi‡, A. Youssef‡, A. Tenore†, G. Pilu‡, N. Rizzo‡ and T. Ghi*§ †Department of Obstetrics and Gynecology, Valduce Hospital, Como, Italy; ‡Department of Obstetrics and Gynecology, S. Orsola-Malpighi University Hospital, Bologna, Italy; §Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy *Correspondence. (e-mail: [email protected]) Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. The following supporting information may be found in the online version of this article: Videoclip S1 Case 2. Transverse sweep of a 29-week fetus with right-sided congenital diaphragmatic hernia showing horizontal position of the stomach in the abdomen.

Right-sided congenital diaphragmatic hernia (R-CDH) occurs in 14 to 25% of all CDH cases. The current literature comparing the outcome of R-CDH vs left CDH (L-CDH) is inconsistent, with some studies reporting higher and others lower mortality in R-CDH compared to L-CDH. The aim of our multicentre study was to analyse characteristics and outcome of R-CDH. We retrospectively reviewed the medical records of 178 consecutive infants with CDH who underwent surgical repair of CDH at three European tertiary pediatric surgical centres from three different countries between 2000 and 2009. The analysis focused on demographic data, morbidity and mortality in R-CDH compared with L-CDH. Out of a total of 178 children, 32 (18.0%) right-sided and 146 (82.0 %) left-sided cases of CDH were identified. Prenatal diagnosis was made in 8 R-CDH vs 67 L-CDH (25.0 vs 45.9%, p = 0.030). Median gestational age in R-CDH was 39 weeks (range 29-42 weeks) and 39 weeks in L-CDH (range 28-43 weeks, p = 0.943). Median birth weight in R-CDH was 3233 g (range 905-4480 g) and in L-CDH was 3060 g (range 1065-5240 g, p = 0.184). Major associated anomalies were present in 19 R-CDH vs 46 L-CDH (59.4 vs 31.5%, p = 0.003). Extracorporeal membrane oxygenation (ECMO) was required in 3 R-CDH vs 19 L-CDH (9.4 vs 13.0%, p = 0.571). A diaphragmatic patch was used in 13 R-CDH and 59 L-CDH (40.6 vs 40.4%, p = 0.982). Fundoplication for GERD was required in 1 R-CDH and 19 L-CDH (3.1 vs 13.0 %, p = 0.109). No significant differences were observed in recurrence rate (9.4 vs 8.9%, p = 0.933). Postoperative mortality rate was significantly higher in R-CDH compared to L-CDH (21.9 vs 8.2%, p = 0.023). In R-CDH, prenatal diagnosis and patch repair correlated with mortality by univariate regression (p = 0.005 and p = 0.019). This multicentre study shows that prenatal diagnosis and patch repair were associated with an increased mortality rate in R-CDH. However, the morbidity following repair of R-CDH was not significantly different from that in L-CDH in survivors.