Complex congenital heart disease with infantile cholestasis and refractory congestive cardiac failure

Gokila.G1*, Gayathri devi2, Dhariniya.S3, Ruby Ravichandran4

1Staff Nurse PICU, Maa Kauvery Hospital, Trichy

2Supervisor PICU Maa Kauvery Hospital, Trichy

3Nursing Educator Maa Kauvery Hospital, Trichy

4Senior Deputy Nursing Superintendent, Maa Kauvery Hospital, Trichy.

*Correspondence 

Abstract

Congestive Cardiac Failure (CCF) is a condition in which the heart cannot pump enough blood to meet the body’s needs. This case describes a 2-month-old female infant with complex congenital heart disease, predominantly a common atrium with Patent Ductus Arteriosus (PDA), associated with infantile cholestasis, failure to thrive, recurrent respiratory infections and progressive congestive cardiac failure. The child was antenatally suspected to have an endocardial cushion defect, but pregnancy termination was declined by the parents. She was born at term by lower-segment caesarean section with a birth weight of 3.4 kg. From early life, she developed tachypnea, conjugated hyperbilirubinemia, dark urine and pale stools. Echocardiography demonstrated a common atrium, small/restrictive inlet ventricular septal defect, PDA with left-to-right shunting, atrioventricular valve regurgitation and pulmonary hypertension. At 2 months of age, she presented with cough, severe respiratory distress and hypoxemia. Despite antibiotics, diuretics, oxygen therapy, high-flow nasal cannula (HFNC), mechanical ventilation and subsequent PDA closure, she developed persistent respiratory failure and refractory hypotensive shock. She subsequently suffered cardiac arrest and died despite resuscitative efforts. The case illustrates the complex interaction between congenital heart disease, pulmonary over circulation, respiratory infection, cholestatic liver disease, malnutrition and progressive cardiac failure.

Introduction

Congenital heart disease (CHD) may produce significant morbidity in infancy when the cardiac lesion results in excessive pulmonary blood flow, volume overload or pulmonary hypertension. A hemodynamically significant PDA can contribute to pulmonary over circulation and cardiac volume loading, potentially worsening respiratory symptoms and heart failure. Common atrial or atrioventricular septal defects may similarly produce significant left-to-right shunting and congestive cardiac failure depending on the anatomy and associated lesions. Infantile cholestasis is another important condition requiring early evaluation because conjugated hyperbilirubinemia indicates hepatobiliary dysfunction and may result from biliary, genetic, metabolic or other causes. The present case is clinically significant because the infant had simultaneous cardiac, respiratory, hepatic and nutritional problems, making management particularly challenging.

History

The patient was a 2-month-old female infant who was a third child born to a non-consanguineous couple. The previous two male children were reportedly alive and healthy. Antenatal evaluation had identified an endocardial cushion defect, and termination of pregnancy had been advised; however, the parents declined. She was born at term by LSCS with a birth weight of 3.4 kg and cried immediately after birth. Echocardiography performed during the neonatal period demonstrated a common atrium with associated PDA and other septal abnormalities. Oral furosemide was started, and the infant was subsequently referred for evaluation of conjugated hyperbilirubinemia. She had persistent jaundice, pale-colored stools and high-colored urine from early life. Evaluation for neonatal cholestasis was undertaken, including screening for infective and metabolic causes. Ultrasound raised the possibility of biliary atresia, while ophthalmological examination did not demonstrate features suggestive of posterior embryotoxon or other ocular abnormalities. Alagille syndrome was considered because of the association between cholestasis and congenital heart disease. Phenobarbitone and ursodeoxycholic acid were commenced, and whole-exome sequencing was sent. The infant was discharged previously on oral diuretics and cholestasis medications but subsequently developed recurrent lower respiratory tract infections and poor weight gain. At 2 months of age, she presented with a dry cough for four days and worsening work of breathing for one day. There was no history of fever or coryza.

 Clinical findings

On admission, the infant was alert but irritable and consolable, with marked icterus and tachypnea. She had severe subcostal, intercostal and suprasternal retractions, bilateral crepitations and grunting, suggesting significant respiratory distress. A pansystolic murmur was present on cardiovascular examination. Hepatomegaly was prominent, with the liver palpable approximately 6-7 cm below the right costal margin, and splenomegaly was approximately 2-3 cm below the left costal margin. Neurologically, she was initially awake with a GCS of E4V5M6, and both pupils were equal and reactive to light. Tone and reflexes were preserved. Anthropometric assessment showed a weight of approximately 2.9 kg, height of 46 cm and head circumference of 35 cm, all below the expected range, consistent with failure to thrive and possible microcephaly. Icterus extended to the palms and soles, and loose skin folds suggested poor nutritional status. The admission oxygen saturation was approximately 90%, with blood pressure around 90/50 mmHg. The overall clinical picture was suggestive of lower respiratory tract infection/bronchiolitis superimposed on congenital heart disease with congestive cardiac failure.

Investigations and Results

Initial investigations demonstrated anemia, neutrophilic leukocytosis, persistent conjugated hyperbilirubinemia with transaminitis, mild metabolic alkalosis, hyponatremia and mildly elevated C-reactive protein. Blood culture was initially sterile, and urine reducing substances were negative. The neonatal cholestasis work-up, including TORCH screening, was negative. Abdominal ultrasonography raised the possibility of biliary atresia. Ophthalmological assessment did not reveal characteristic ocular abnormalities. Echocardiography demonstrated a spectrum of atrioventricular septal defect with a common atrium, small/restrictive inlet VSD, good biventricular systolic function, PDA with left-to-right shunting, moderate bilateral atrioventricular valve regurgitation, mild flow-related pulmonary stenosis, possible peripheral pulmonary stenosis and hyperkinetic pulmonary arterial hypertension. Chest radiography showed hyper inflated lung fields, increased broncho vascular markings and cardiomegaly. Later lung point-of-care ultrasound demonstrated significant posterior interscapular lung collapse with diffuse B-lines involving both lung fields, consistent with atelectatic and interstitial pulmonary involvement. Repeat echocardiography continued to demonstrate the common atrium and PDA with associated hemodynamic burden. Because of persistent congenital cholestasis, pediatric gastroenterology recommended liver biopsy to establish the underlying etiology.

Diagnosis

The final clinical diagnoses were complex cyanotic/congenital heart disease comprising common atrium and PDA, infantile or neonatal cholestasis with conjugated hyperbilirubinemia, failure to thrive, acute viral/lower respiratory tract infection and refractory congestive cardiac failure complicated by shock. The PDA was clinically important because persistent ductal shunting can increase pulmonary blood flow and cardiac volume loading, contributing to pulmonary congestion and heart failure. The cholestatic presentation with pale stools and dark urine warranted evaluation for biliary atresia and genetic/metabolic liver disease, consistent with established recommendations for early assessment of infantile cholestasis.

Management

The infant was initially managed with intravenous piperacillin–tazobactam and amikacin, oral oseltamivir, furosemide and spironolactone, nebulization, chest physiotherapy and supportive care. Nasogastric feeding was initiated because of respiratory distress and poor nutritional status. With worsening respiratory distress and hypoxemia, she was transferred to the PICU and supported with HFNC. Despite maximal non-invasive respiratory support, respiratory distress persisted. The parents were counselled regarding the need for intubation, possible early cardiac intervention and guarded prognosis. Subsequently, the infant developed lethargy, severe hypoxemia and worsening respiratory distress and required endotracheal intubation and mechanical ventilation. Sedoanalgesia was maintained, and a central venous catheter was inserted because of difficulty obtaining peripheral access. Hypokalemia and metabolic alkalosis were treated with potassium supplementation and acetazolamide. One unit of packed red blood cells was transfused at 10 mL/kg for severe anemia. Antibiotic therapy was later escalated to meropenem and linezolid, and subsequently colistin was administered in view of ongoing clinical deterioration and infection concerns. Pediatric cardiology and cardiothoracic surgery teams reviewed the infant, and PDA closure was considered because of its contribution to the hemodynamic and respiratory burden. Definitive PDA closure was subsequently performed under general anesthesia on 13 August 2026. Following the procedure, the infant was extubated to HFNC on postoperative day one, but respiratory distress and intermittent hypoxemia recurred. She subsequently required re-intubation and continued mechanical ventilation. Gastroenterology continued evaluation of the cholestatic liver disease, and a liver biopsy was planned/performed for histopathological assessment.

Nursing Management

The infant was managed in the PICU with continuous monitoring because of complex congenital heart disease, congestive cardiac failure, respiratory distress, cholestasis and failure to thrive. The following nursing interventions were provided:

Respiratory management: Continuous monitoring of SpO₂, respiratory rate, work of breathing and breath sounds was performed. The infant was positioned appropriately, airway patency was maintained, and oxygen therapy was administered as prescribed. HFNC was provided initially, followed by endotracheal intubation and mechanical ventilation when respiratory failure worsened. Ventilator parameters, airway pressures and secretions were closely monitored.

Cardiovascular management: Heart rate, blood pressure, peripheral perfusion, capillary refill and cardiac rhythm were monitored continuously. Signs of worsening congestive cardiac failure such as tachycardia, hepatomegaly, increasing respiratory distress and reduced urine output were assessed. Prescribed diuretics and vasoactive medications were administered, with close monitoring for hypotension and electrolyte abnormalities.

Fluid and electrolyte management: Strict intake and output monitoring was maintained, including urine output. Daily weight and peripheral edema were assessed. Fluid therapy was carefully regulated because of the risk of fluid overload. Serum sodium and potassium levels were monitored, and prescribed potassium supplementation and acetazolamide were administered when indicated.

Nutrition and growth: Because of respiratory distress and poor weight gain, nutritional status was closely monitored. Nasogastric feeding was provided as prescribed, with assessment for feeding intolerance, abdominal distension and aspiration risk. Weight, length and nutritional status were regularly assessed.

Cholestasis and liver care: Jaundice, urine colour and stool colour were monitored. Liver function tests and bilirubin levels were followed. Prescribed ursodeoxycholic acid and other medications were administered. The infant was prepared for investigations such as liver biopsy, and bleeding risk was monitored because of possible hepatic dysfunction.

Infection prevention and control: Strict hand hygiene and aseptic technique were maintained during all procedures. Central-line, endotracheal-tube and other invasive-device care were performed according to PICU protocols. Temperature, inflammatory markers and culture results were monitored for evidence of infection.

Post-PDA closure care: Following PDA closure, vital signs, respiratory status, peripheral perfusion and cardiac function were closely monitored. The infant was observed for complications and recurrence of respiratory distress. Extubation readiness and response to HFNC were continuously assessed.

Neurological monitoring: Level of consciousness, pupil response, tone and activity were assessed regularly, particularly during episodes of hypoxemia and shock.

Skin and pressure-area care: Due to prolonged critical illness and poor nutritional status, the infant’s skin integrity was assessed frequently. Regular repositioning and pressure-area care were provided.

Family support and counseling: The parents were regularly informed about the infant’s condition, treatment, procedures and guarded prognosis. Emotional support was provided, and explanations regarding respiratory support, PDA closure and possible complications were given in an understandable manner.

Emergency and resuscitation care: During clinical deterioration, the nursing team promptly recognized worsening hypoxemia and hypotension, supported airway and ventilation management, administered prescribed vasoactive medications, and assisted with advanced pediatric resuscitation during cardiac arrest.

End-of-life care: Following unsuccessful resuscitation, care was provided respectfully according to institutional protocol. The parents were supported emotionally, and appropriate post-death procedures and documentation were completed.

 

 

Outcome

Although there was transient improvement after several interventions, the infant remained critically ill with persistent respiratory failure and difficulty weaning from mechanical ventilation. She developed intermittent fever spikes, and endotracheal aspirate and blood cultures remained sterile in the documented course. Following PDA closure, she initially improved enough to be extubated but subsequently developed severe respiratory distress and hypoxemia, requiring re-intubation. Approximately 40 hours after extubation, worsening respiratory distress was associated with hypotensive shock, requiring adrenaline and nor-adrenaline infusions. Despite maximal vasoactive support, hypotension persisted. The clinical team explained the high risk of mortality and guarded short- and long-term prognosis to the parents. Pediatric advanced life-support principles emphasize rapid recognition and treatment of pre-arrest, cardiac arrest and post-arrest states in critically ill infants and children.

Discharge

The infant was not discharged from the hospital because of progressive clinical deterioration and death during the same admission. Resuscitative measures were undertaken following sudden cardiac arrest, but return of spontaneous circulation could not be achieved. The infant was declared deceased on 18 August 2026 at 6:00 PM. The documented causes of death were refractory congestive cardiac failure, common atrium and neonatal cholestasis syndrome. A cadaveric liver biopsy was subsequently obtained and sent for histopathological examination to investigate the underlying congenital cholestatic liver disease.

Conclusion

This case demonstrates the severe clinical consequences that can occur when complex congenital heart disease is accompanied by persistent PDA, pulmonary hypertension, recurrent respiratory infection, cholestasis and failure to thrive. The infant’s prolonged respiratory distress was likely multifactorial, involving pulmonary infection, pulmonary congestion, atelectasis and the hemodynamic effects of congenital cardiac lesions. Although aggressive multidisciplinary management was provided, including respiratory support, antimicrobial therapy, diuretics, nutritional support, mechanical ventilation and PDA closure, progressive cardiac and respiratory failure ultimately resulted in refractory shock and cardiac arrest. Early recognition of congenital heart disease, systematic evaluation of conjugated hyperbilirubinemia, close nutritional monitoring and coordinated pediatric cardiology, gastroenterology, intensive-care and cardiothoracic management are essential in similarly complex infants.

 

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