Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare congenital syndrome that causes defects involving the diaphragm,

abdominal wall In anatomy, the abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the anterolateral and posterior walls. There is a common set of layers covering and forming all the walls: the deepest being the v ...

pericardium The pericardium, also called pericardial sac, is a double-walled sac containing the heart and the roots of the great vessels. It has two layers, an outer layer made of strong connective tissue (fibrous pericardium), and an inner layer made of ...

heart The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide t ...

and lower

sternum The sternum or breastbone is a long flat bone located in the central part of the chest. It connects to the ribs via cartilage and forms the front of the rib cage, thus helping to protect the heart, lungs, and major blood vessels from injury. Sh ...

Presentation

There are five characteristic findings in pentalogy of Cantrell: # an abdominal wall defect, # lower sternal defect, # congenital heart malformations, # absence of the diaphragmatic pericardium, # and an anterior diaphragmatic defect. Abdominal wall defects in pentalogy of Cantrell occur above the umbilicus (supraumbilical) and in the midline, and have a wide range of presentations.

Diastasis recti Diastasis recti, or rectus abdominis diastasis, is defined as a gap of about 2.7 cm or greater between the two sides of the rectus abdominis muscle. The distance between the right and left rectus abdominis muscles is created by the stretching ...

hernia A hernia is the abnormal exit of tissue or an organ (anatomy), organ, such as the bowel, through the wall of the cavity in which it normally resides. Various types of hernias can occur, most commonly involving the abdomen, and specifically the gr ...

s, and

omphalocele Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of ...

have all been described in conjunction with the pentalogy. Sternal defects too have a range of presentations, from absence of the

xiphoid process The xiphoid process , or xiphisternum or metasternum, is a small cartilaginous process (extension) of the inferior (lower) part of the sternum, which is usually ossified in the adult human. It may also be referred to as the ensiform process. Bo ...

to shortened or cleft

. If the sternal defect is large enough, the neonate may have

ectopia cordis Ectopia cordis (Greek: ''"away / out of place"'' + Latin: ''"heart"'') or ectopic heart is a congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax. The ectopic heart can be found along ...

, in which the heart is located outside of the thorax. Many congenital heart malformations have been described in conjunction with pentalogy of Cantrell. The most common is

ventricular septal defect A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating one ...

, found in 72% of cases. Others include

atrial septal defect Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper chambers) of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the foramen ovale; however, when this d ...

, cardiac diverticulum,

pulmonic stenosis Pulmonic stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to the pulmonary artery. It is usually first diagnosed in childhood. Signs and symptoms Cause Pulmonic stenosis is usually due to isolated valvula ...

double outlet right ventricle Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great arteries connect (in whole or in part) to the right ventricle (RV). In some cases it is found that this occurs on the left side of the heart rather ...

tetralogy of Fallot Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect characterized by four specific cardiac defects. Classically, the four defects are: *pulmonary stenosis, which is narrowing of the exit from the r ...

dextrocardia Dextrocardia (from Latin ''dextro'', meaning "right hand side," and Greek ''kardia'', meaning "heart") is a rare congenital condition in which the apex of the heart is located on the right side of the body, rather than the more typical placement t ...

, and

transposition of the great vessels Transposition of the great vessels (TGV) is a group of congenital heart defects involving an abnormal spatial arrangement of any of the great vessels: superior and/or inferior venae cavae, pulmonary artery, pulmonary veins, and aorta. Congenit ...

Causes

Most cases of pentalogy of Cantrell are idiopathic (no known cause). However, some cases have been described with a genetic linkage to a

locus Locus (plural loci) is Latin for "place". It may refer to: Entertainment * Locus (comics), a Marvel Comics mutant villainess, a member of the Mutant Liberation Front * ''Locus'' (magazine), science fiction and fantasy magazine ** ''Locus Award' ...

at Xq25-q26.1.

Epidemiology

Pentalogy of Cantrell occurs in 1/65,000 to 1/200,000 live births.

History

It was first characterized in 1958. A 2010 study concluded that the 13th-century Christian saint

Rose of Viterbo Rose of Viterbo, T.O.S.F. ( it, Rosa da Viterbo; c. 1233 – 6 March 1251), was a young woman born in Viterbo, then a contested commune of the Papal States. She spent her brief life as a recluse, who was outspoken in her support of the papacy. O ...

died of complications of Pentalogy of Cantrell.

References

External links

{{Medical resources , DiseasesDB = 32984 , ICD10 = Q89.7 , ICD9 = , ICDO = , OMIM = 313850 , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = D058502 , Orphanet = 1335 , SNOMED CT = 281587000 Genetic disorders with OMIM but no gene Medical pentads