Cantrell syndrome

Cantrell Syndrome Cantrell Syndrome, also known as Pentalogy of Cantrell, is a rare congenital disorder characterized by a combination of defects involving the heart, diaphragm, abdominal wall, pericardium, and lower sternum. This condition was first described by Dr. James Cantrell in 1958.

Clinical Features

Cantrell Syndrome is defined by the presence of five major defects: 1. ]]Ectopia Cordis]]: A condition where the heart is located partially or totally outside of the thoracic cavity. 2. ]]Abdominal Wall Defect]]: Often presenting as an omphalocele, where abdominal organs protrude through the navel. 3. ]]Diaphragmatic Defect]]: A defect in the diaphragm, which can lead to respiratory complications. 4. ]]Pericardial Defect]]: Absence or defect of the pericardium, the membrane enclosing the heart. 5. ]]Lower Sternal Defect]]: A cleft or absence of the lower part of the sternum.

Associated Anomalies

In addition to the primary features, individuals with Cantrell Syndrome may also present with:

• Cardiac Anomalies: Such as ventricular septal defect, atrial septal defect, or tetralogy of Fallot.
• Pulmonary Hypoplasia: Underdevelopment of the lungs due to associated defects.
• Craniofacial Abnormalities: Including cleft lip or palate.

Etiology

The exact cause of Cantrell Syndrome is not well understood. It is believed to result from a developmental defect during embryogenesis, specifically affecting the mesodermal structures. Genetic factors may play a role, although no specific genetic mutation has been consistently identified.

Diagnosis

Diagnosis of Cantrell Syndrome is typically made through prenatal imaging techniques such as ultrasound or fetal echocardiography. Postnatal diagnosis involves a combination of physical examination and imaging studies, including X-rays, echocardiograms, and MRI.

Management

Management of Cantrell Syndrome is complex and requires a multidisciplinary approach. Treatment options may include:

• Surgical Repair: To correct the abdominal wall defect, ectopia cordis, and any associated cardiac anomalies.
• Supportive Care: Including respiratory support and nutritional management.
• Long-term Follow-up: To monitor for complications and assess developmental progress.

Prognosis

The prognosis for individuals with Cantrell Syndrome varies widely depending on the severity of the defects and the presence of associated anomalies. Early surgical intervention can improve outcomes, but the condition is often life-threatening, especially in severe cases.

Research and Future Directions

Ongoing research aims to better understand the genetic and developmental mechanisms underlying Cantrell Syndrome. Advances in prenatal diagnosis and surgical techniques continue to improve the management and outcomes for affected individuals.

See Also

• Congenital Heart Defect
• Omphalocele
• Diaphragmatic Hernia

NIH genetic and rare disease info

• NIH info on Cantrell syndrome

Cantrell syndrome is a rare disease.