Pericardial and diaphragmatic defect

Pericardial and diaphragmatic defect, also known as pericardial deficiency-diaphragmatic defect syndrome or congenital absence of the pericardium with diaphragmatic defect, is an extremely rare congenital malformation characterized by the combined absence or deficiency of the pericardium (the fibrous sac surrounding the heart) and a defect in the diaphragm (the muscle separating the chest and abdominal cavities). This condition affects the cardiothoracic and abdominal systems. The pericardial defect may be partial or complete, and the diaphragmatic defect can range from a small opening to a large hernia that allows abdominal organs to migrate into the chest cavity (diaphragmatic hernia). Clinical features may include respiratory distress, cardiac displacement or abnormal cardiac mobility, chest pain, and complications related to herniation of abdominal contents into the thorax. Associated congenital anomalies, including cardiac malformations, may also be present. The condition is typically identified in the neonatal period or during infancy, often when respiratory or cardiac symptoms prompt imaging studies. Diagnosis is usually confirmed through imaging modalities such as chest X-ray, echocardiography, CT scan, or MRI. Treatment is primarily surgical and depends on the severity of the defects. Diaphragmatic hernia repair is often necessary to prevent life-threatening complications such as bowel strangulation or respiratory compromise. Surgical repair or reconstruction of the pericardium may also be considered, although isolated pericardial defects do not always require intervention. Prognosis depends on the extent of the defects and the presence of associated anomalies. Long-term follow-up with cardiology and surgery is typically recommended.

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

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Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

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Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Common questions about Pericardial and diaphragmatic defect