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A Congenital Diaphragmatic Hernia Associated with Pectus Excavatum and Dextrocardia without Situs Inversus. A Rare Presentation in a 6-week Old Infant

In plain language

Congenital diaphragmatic hernia is a severe condition where abdominal organs move into the thoracic cavity through a diaphragmatic opening, causing respiratory distress and underdeveloped lungs. A six-week-old infant presented with cardiopulmonary distress, showing rapid breathing, high heart rate, and mild oxygen desaturation. Imaging via computed tomography and echocardiography identified a rare combined presentation of a left-sided congenital diaphragmatic hernia, pectus excavatum, and dextrocardia without situs inversus. The dextrocardia in this setting stemmed from a primary cardiac malformation. Emergency laparotomy successfully reduced the herniated viscera back into the abdomen and repaired the diaphragmatic defect through primary closure. Following postoperative care including mechanical ventilation, fluids, and antibiotic therapy, the infant recovered uneventfully, was weaned off respiratory support, and was discharged in a stable condition.

Key takeaways

  • A rare co-occurrence of left-sided congenital diaphragmatic hernia, pectus excavatum, and dextrocardia without situs inversus was successfully managed in an infant.
  • Emergency laparotomy involving reduction of herniated viscera and primary closure of the diaphragm resolved the acute distress.
  • Early diagnosis and prompt surgical intervention are essential to avoid life-threatening complications associated with congenital diaphragmatic defects.

Why it matters

Congenital diaphragmatic hernia occurs in roughly one in 4,000 births and carries severe life-threatening risks. Recognising extremely rare clinical presentations, such as combinations with chest wall deformities and primary cardiac malpositions, ensures that clinical teams carry out prompt multidisciplinary assessments and immediate surgical repairs, significantly improving infant survival rates.

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Abstract

Background; Congenital diaphragmatic hernia is a life-threatening condition caused by a defect in the diaphragm, allowing abdominal organs to herniate into the thoracic cavity, leading to pulmonary hypoplasia and respiratory distress. The association of congenital diaphragmatic hernia with pectus excavatum and dextrocardia without situs inversus is exceptionally rare. Dextrocardia in this context results from a primary cardiac malformation. Early recognition and prompt surgical intervention are crucial to prevent severe complications and improve survival outcomes. Case Presentation; We report a six-week-old infant presenting with features of cardiopulmonary distress. The baby exhibited tachypnea (respiratory rate: 75 breaths/min), tachycardia (pulse rate: 185 beats/min), and mild desaturation (96% on oxygen therapy via nasal prongs). On physical examination revealed a normal abdominal contour with normal bowel sounds. Chest Computed Tomography scan and echocardiography confirmed left-sided congenital diaphragmatic hernia with pectus excavatum, and dextrocardia without situs inversus. The patient underwent an emergency laparotomy, where intraoperative findings included a significant diaphragmatic defect with herniated abdominal viscera within the thoracic cavity. Surgical repair involved reduction of herniated contents and primary diaphragmatic closure. Postoperatively, the infant received ventilatory support, intravenous fluids, and antibiotics. The recovery was uneventful, with gradual weaning off respiratory support and subsequent discharge in stable condition. Discussion; The incidence of CDH is approximately 1 in 4,000 births, with Bochdalek hernia being the most common type (85%). Delayed surgical intervention increases the risk of life-threatening complications. Conclusion; This rare case highlights the importance of early diagnosis, multidisciplinary management, and timely surgical intervention for optimal outcomes.

Research topics

  • Congenital Diaphragmatic Hernia Studies
  • Pectus Deformity Diagnosis and Treatment
  • Pleural and Pulmonary Diseases

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DOI: 10.22541/au.174373925.51235673/v1

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