Diaphragmatic Hernias Clinical Presentation

Updated: Oct 24, 2017
  • Author: Nicola Lewis, MBBS, FRCS, FRCS(Paed Surg); Chief Editor: Eugene S Kim, MD, FACS, FAAP  more...
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Presentation

History and Physical Examination

Antenatal

The diagnosis of congenital diaphragmatic hernia (CDH) is frequently made prenatally prior to 25 weeks' gestation. CDH is usually detected in the antenatal period (46-97%), depending on the use of level II ultrasonography techniques (see Workup).

Postnatal

History and clinical findings vary with the presence of associated anomalies and the degree of pulmonary hypoplasia and visceral herniation. In the infant presenting in the neonatal period without antenatal diagnosis, variable respiratory distress and cyanosis, feeding intolerance, and tachycardia are noted. In the physical examination, the abdomen is scaphoid if significant visceral herniation is present (see the image below). Upon auscultation, breath sounds are diminished, bowel sounds may be heard in the chest, and heart sounds are distant or displaced.

Photograph of a one-day-old infant with congenital Photograph of a one-day-old infant with congenital diaphragmatic hernia. Note the scaphoid abdomen. This occurs if significant visceral herniation into the chest is present.

Late presentation

Patients may present outside of the neonatal period with respiratory symptoms, intestinal obstruction, bowel ischemia, and necrosis following volvulus.

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Complications

Associated anomalies are present in 10-50% of patients with CDH; patients with these anomalies have a twofold relative risk of mortality when compared with patients with isolated CDHs. [16] Frequently associated anomalies include cardiac defects, chromosomal anomalies (ie. trisomies 21, 18, and 13), renal anomalies, genital anomalies, and neural tube defects.

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