Collaboration Between Cardiology and Palliative Care for Severe Congenital Heart Disease

A 33-year-old gravida 3, para 2 woman was referred to our fetal center at 21 weeks’ gestation for a fetal echocardiogram due to abnormal cardiac views on level II ultrasonography. A fetal echocardiogram (Figure 1) confirmed a complex congenital heart defect, with a severely unbalanced left ventricle–dominant complete atrioventricular (AV) canal defect with atrial-ventricular discordance (ventricular inversion), double-outlet right ventricle, and severe pulmonary valve stenosis. Atrial situs solitus, atrio-ventricular discordance with L looping of the ventricles, and the aorta positioned anterior and leftward. The atrial component of the AV canal was large and the ventricular component was small, leading to a small right ventricle to supply the outflow tracts. The aorta was enlarged, and the pulmonary valve was severely hypoplastic (z score = −4.4) but patent. The pulmonary blood supply was mostly retrograde from the ductus arteriosus, though a narrow prograde jet was visible by color Doppler. There were confluent main and branch pulmonary arteries. The expectant parents underwent detailed counseling by our Fetal Cardiology team regarding the diagnosis and severity of the heart defect. They were informed about the potential management options, including staged surgical single-ventricle palliation (such as initial patent ductus arteriosus stent vs surgical shunt placement, followed by Glenn and Fontan surgeries) with an eventual need for a heart transplant or a comfort-focused newborn care approach.Given the poor prognosis, the pregnant patient and her husband met with our Perinatal Palliative Care team the following day. Discussions focused on establishing decisional support and coping strategies. Both expectant parents expressed the importance of quality of life and limiting suffering for their infant and their 2 older children as they began to explore early goals of care. They actively sought guidance in discussing all options of care in this pregnancy and for their infant after birth. The couple chose to continue the pregnancy with plans to adjust goals of care based on fetal well-being and serial imaging findings. They decided on an initial plan to pursue postnatal evaluations and likely the first stage of surgical palliation but acknowledged their need to continue to learn about their child through ongoing pregnancy and neonatal care.Routine pregnancy care continued with the patient’s primary obstetrician. Genetic screening by cell-free fetal DNA demonstrated low risk for common aneuploidies. Karyotype and microarray by amniocentesis were unremarkable. The 3-hour glucose tolerance test was normal. Early third-trimester imaging revealed a large-for-gestational-age male fetus and mild polyhydramnios (amniotic fluid index of 24 cm) but no other anomalies, hydrops, or additional concerns for fetal well-being.The couple returned to our Fetal Center for fetal echocardiogram and multidisciplinary consultation with Fetal Cardiology, Neonatology, Maternal-Fetal Medicine, and Perinatal Palliative Care at 29 weeks’ gestation. The fetal echocardiogram revealed new findings of moderate regurgitation of the common AV valve with moderately depressed right and left ventricles. The dominant left ventricle was dilated with aneurysmal thinning of the myocardial walls. The ventricular septal defect appeared small and restrictive as the blood flowed to the small right ventricle to reach the outflow tracts. The pulmonary valve remained severely hypoplastic, with pulmonary artery flow supplied retrograde by a small ductus arteriosus and a very small jet of prograde flow at the pulmonary valve.The team met with the couple and discussed that the development of AV valve regurgitation and ventricular dysfunction indicated an accelerated timeline toward failure of the single-ventricle pathway, necessitating consideration for early heart transplant after birth. The expected course after birth was now not just ductal-dependent single ventricle anatomy but additionally managing a failing single-ventricle heart with significant AV valve leak. The team reviewed that a prolonged neonatal hospital course with multiple intensive care–level interventions was anticipated—including inotropes, respiratory and feeding support, and possible mechanical cardiac support to bridge the infant to transplant candidacy. The Pediatric Heart Failure Transplant team met with the family and shared expectations for possible listing, expected necessary interventions on the waitlist, average wait times, and short-term and long-term outcomes following heart transplants in infants. At the time, the average wait time in our center for infant heart transplant was approximately 6 months. The high risk of developing hydrops fetalis and intrauterine demise was also discussed.The integration of early palliative care consultation in the management of neonates with critical congenital heart disease, particularly those facing single-ventricle palliation, has demonstrated significant benefits for families.1–7 A common theme identified by palliative care clinicians is the need for timely introduction of decisional support, which often occurs too late in the pregnancy.6 Joint antepartum consultations with Maternal-Fetal Medicine, Fetal Cardiology, and Perinatal Palliative Care for families with a life-limiting cardiac diagnosis allows for a comprehensive exploration of the expectant parents’ experiences, medical understanding, patient-specific risks, prognostic awareness, and concerns for quality of life. In addition, parental values, beliefs, and concerns; psychological, social, and spiritual needs; and future reproductive desires are discussed. With the involvement of our Maternal-Fetal Medicine team, we emphasize the well-being of the pregnant patient, ensuring we remain cognizant of warning signs of complications that may arise because of the diagnosis. It is common for expectant parents to experience degrees of uncertainty as they process diagnostic and prognostic information, recognizing that ongoing fetal stability and the newborn’s condition at birth may further inform their goals of care.For our patient, the initial fetal diagnosis of severe pulmonary stenosis rather than pulmonary atresia indicated that opting for a comfort-focused or neonatal care pathway without surgical intervention might result in weeks to months of cyanosis or hypoxemia, eventually leading to progressive cardiopulmonary failure. This contrasts with the more traditionally considered approach of comfort-focused care, which often leads to neonatal death shortly after the closure of the ductus arteriosus.The news of worsened fetal heart disease was devastating to this couple. They grappled with the emotional weight of making decisions for their cherished child. They struggled through the internal conflict of maintaining hope for a good outcome, while simultaneously fearing for their child’s suffering during a highly medicalized course, both in the immediate newborn period and long term with posttransplant complications. Their fears extended to the impact on their other young children, prompting questions about inpatient and home-based comfort-focused care and hospice options. Frequent consultations with Cardiology, Perinatal Palliative Care, and the Pediatric Heart Transplant teams at our Fetal Center allowed the family to gather information and refine their goals of care for their son after delivery.Fetal growth and well-being remained favorable with no signs of hydrops. Echocardiogram at 33 weeks’ gestation showed worsening ventricular function and AV valve leak into the severe range for both. A final fetal echocardiogram at 37 weeks’ gestation showed increased severity with only a very small jet of forward flow through the severely hypoplastic pulmonary valve (z score = −5.4) and a small retrograde ductus arteriosus (Video 1).The expectant parents found the prognostic value of information gained by the serial echocardiograms to be critical in their decision-making. Although there was no hydrops, the continued worsening of ventricular function over the course of gestation showed a trajectory of progression that was expected to continue, particularly with the increased demands and loading conditions to the heart after birth. Considering these developments, the couple made the heartfelt decision to pursue a comfort-focused approach for their baby after birth.The couple elected to deliver at a primary maternity hospital under the care of the primary obstetrician. A multidisciplinary delivery care conference with clinicians from the Fetal Center and the delivering hospital was held prior to delivery, allowing the pregnant patient and her husband the opportunity to establish expectations for maternal care and comfort-focused neonatal care at the time of delivery. In collaboration with the Perinatal Palliative Care team, the couple created a Perinatal Palliative Care Birth Plan. Maternal-Fetal Medicine supported the pregnant patient’s desire for vaginal delivery, with surgical delivery reserved for maternal indications only.8Neonatology and Palliative Care guided discussions around routine newborn care, comfort-focused feeding, management of dyspnea or distress, and end-of-life care. Despite the retrograde flow in the ductus arteriosus and severe pulmonary stenosis, the team discussed that timing of ductal closure and cyanosis can be variable after birth and very difficult to predict. Within our community, the options of home-based hospice and inpatient hospice care for children were available; the expectant parents found the idea of the death of their child in their home unimaginable, and an inpatient hospice option was much more aligned with their goals. The transition from labor and delivery unit to inpatient hospice care if their son remained alive at the time of maternal hospital discharge was mapped out with the couple as well as the delivery hospital team. Home-based pediatric hospice remained an option if the family’s goals shifted. Finally, opportunities for family-centered care, spiritual care, and memory-making including with their older children were addressed by team members from nursing, spiritual care, social work, and child life specialists.A 3.8-kg infant boy was born via induced vaginal delivery at term gestational age. The Apgar score was 7 and 8 at 1 and 5 minutes, respectively. The infant received routine newborn care and remained in the postpartum unit with his parents. Neonatology and the Hospice and Palliative Care Teams at the patient’s delivery hospital continued to support the family’s goals of care of focusing on comfort, and at maternal discharge, the infant was discharged to inpatient hospice with his parents.At 9 days of age, the infant remained alive and, although markedly cyanotic, was relatively comfortable and able to maintain comfort-focused feeding. With the parents’ ongoing goals of maintaining a clear understanding of their son’s condition, they were seen by the fetal cardiologist. At that visit, the infant was tachypneic and cyanotic with hepatomegaly. An echocardiogram confirmed the fetal cardiac findings, with severe common AV valve leak and severely depressed biventricular function. There was a 1-mm jet of prograde pulmonary flow at a very small pulmonary annulus, and a small residual patent ductus arteriosus. Longitudinal decisional support was maintained through collaboration with the patient’s fetal cardiologist and palliative care physicians, and the parent’s goals of care for their son remained comfort focused.The infant returned to inpatient hospice where the family continued to spend time with him, introducing him to his young siblings and making memories as a family. Symptoms of dyspnea were well managed with scheduled opiates. During the following month, his cardiologist in conjunction with his hospice and palliative care teams engaged regularly with the family as they expressed surprise at his ongoing survival. He was seen at 5 weeks of age for collaborative consultation with the Palliative Care, Cardiology, and Heart Transplant teams. The parents were able to explore continued options and expectations if they were to consider shifting paths to surgical intervention. Ultimately, with strong support from their multidisciplinary team, the family remained committed to their goals to focus on peaceful time together as a family in hospice care. Four days later, he passed away comfortably in his parents’ embrace.Pediatric Palliative Care aims to enhance the quality of life for children and families by alleviating suffering and aligning medical care with their values and beliefs.1,2,9 Our case underscores the critical role of extending palliative care into fetal and perinatal populations, particularly for families facing a prenatal diagnosis of severe life-limiting congenital heart disease. Collaborative partnerships between Fetal Cardiology, Maternal-Fetal Medicine, and Perinatal Palliative Care during multispecialty prenatal consultations can create a framework by which discussions around diagnostic and prognostic assessment are balanced with exploration of values, unique family perspectives, and options for treatment or care pathways ahead.6,10 Additionally, a structured multispecialty framework has been objectively shown to facilitate not only collaborative discussion beyond the misconception of palliative care being associated with death preparation alone but also provision of comfort and support to affected family members.8 Furthermore, Perinatal Palliative Care consultation in patients with complex congenital heart disease has been shown to result in decreased maternal stress, better coping skills, and improved communication and clinician-family relationships.11Early involvement of palliative care in patients with severe congenital heart defects improves continuity with palliative care teams throughout clinical courses and allows for decisional support in a proactive rather than reactive manner.4,5,8 Applying principles of palliative care such as exploration of value systems, assessment of medical understanding and prognostic awareness, and attention to social and spiritual belief structures in early encounters can positively impact decisional support for families experiencing fetal diagnoses of severe congenital heart disease.10–12For our pregnant patient, there were multiple unexpected turns in her care—initial diagnosis, worsening fetal echocardiogram findings, a continued stable pregnancy and delivery, and continued survival longer than expected for the baby after birth. The established relationship with Fetal Cardiology and Perinatal Palliative Care allowed this couple to benefit from our foundational understanding of their value systems and longitudinally discussed goals of care as the pregnancy progressed and the fetal heart condition evolved. Although comfort-focused care was ultimately planned for the immediate neonatal period, clear communication and opportunities to utilize ongoing Cardiology assessment allowed the family to continue to shape their prognostic awareness of their child’s heart disease while he remained alive. The longitudinal support of palliative care experts assisted them in revisiting their goals of care at every visit, as they processed his ongoing survival into his first weeks after birth, balancing survival with ongoing clarity of the severity of his heart defect.Partnership between Fetal Cardiology and Perinatal Palliative Care is crucial in the care of families facing severe congenital heart disease during pregnancy.Implementation of early collaborative consultation with these 2 specialties paves the way for optimal discussions of diagnostic information, prognostic awareness, and family-centered decisional support.Longitudinal Fetal Center care with these types of multispecialty partnerships provides a foundation from which to continually reevaluate ongoing patient needs, new prognostic information, and evolving parental goals of care.