The Pentalogy of Cantrell is a rare congenital disorder characterized by a set of five distinct malformations that affect the chest, abdomen, and heart. These malformations include:
1. Ectopia cordis: This is the most characteristic feature of the syndrome, where the heart is located partially or completely outside the chest cavity, exposed externally. The heart may be covered by a thin layer of skin or a protective sac.
2. Anterior diaphragmatic hernia: There is a defect in the diaphragm, the muscle that separates the chest from the abdomen, allowing organs such as the stomach, liver, and intestines to protrude into the chest cavity.
3. Sternal cleft: An abnormality in the development of the breastbone (sternum), resulting in a fissure or split in the midline.
4. Defects of the anterior abdominal wall: This includes omphalocele, where abdominal organs herniate into the base of the umbilical cord, and/or gastroschisis, where the intestines protrude through a hole beside the umbilical cord.
5. Cardiac abnormalities: Although not always present, various heart defects can occur, such as ventricular septal defects (holes between the heart's chambers), Tetralogy of Fallot, or other anomalies.
The Pentalogy of Cantrell is typically diagnosed during prenatal ultrasound examinations or immediately after birth. Treatment often involves surgical intervention, with the primary goal of protecting and repositioning the heart within the chest while repairing any other associated malformations. The prognosis for individuals with this condition depends on the severity of the heart and abdominal defects, as well as any associated abnormalities affecting other organs. With appropriate medical and surgical management, some patients can survive
