Pentalogy of Cantrell
Pentalogy of Cantrell is a rare congenital disorder, characterized by a combination of five defects involving the diaphragm, abdominal wall, pericardium, heart, and lower sternum. The condition was first described by American radiologist James Cantrell in 1958.
Etiology[edit | edit source]
The exact cause of Pentalogy of Cantrell is unknown. However, it is believed to be due to a disruption in the development of the midline embryonic structures during the early stages of pregnancy. This disruption could be due to genetic or environmental factors, or a combination of both.
Clinical Features[edit | edit source]
The five defects associated with Pentalogy of Cantrell include:
- Defect in the diaphragm, the muscle that separates the chest and abdominal cavities.
- Defect in the lower sternum, the bone that forms the middle of the front of the rib cage and helps protect the heart and lungs.
- Defect in the anterior abdominal wall, which protects the organs within the abdomen.
- Defect in the pericardium, the sac that surrounds the heart.
- Heart malformations, which can vary in severity and type.
The severity of these defects can vary widely among individuals, and not all five defects may be present in every case.
Diagnosis[edit | edit source]
Diagnosis of Pentalogy of Cantrell can be challenging due to the rarity of the condition and the variability in the presentation of symptoms. It is often diagnosed through a combination of physical examination, imaging studies such as ultrasound or MRI, and genetic testing.
Treatment[edit | edit source]
Treatment for Pentalogy of Cantrell is typically surgical and depends on the severity and type of defects present. The goal of treatment is to correct the defects and improve the function of the affected organs.
Prognosis[edit | edit source]
The prognosis for individuals with Pentalogy of Cantrell varies depending on the severity of the defects and the success of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead normal lives.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
