| Pentalogy of Cantrell | |
|---|---|
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| MRI in pregnancy in a case of pentalogy of Cantrell, showing ectopia cordis (*), partial herniation of the liver (arrow), and a small thoracic cavity (t) | |
| Specialty | Medical genetics  |
Pentalogy of Cantrell (or thoraco-abdominal syndrome) is an extremely rare [1] congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.
There are five characteristic findings in pentalogy of Cantrell:
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, hernias, and omphalocele have all been described in conjunction with the pentalogy. [2]
Sternal defects too have a range of presentations, from absence of the xiphoid process to shortened or cleft sternum. If the sternal defect is large enough, the neonate may have ectopia cordis, in which the heart is located outside of the thorax. [2]
Many congenital heart malformations have been described in conjunction with pentalogy of Cantrell. The most common is ventricular septal defect, found in 72% of cases. Others include atrial septal defect, cardiac diverticulum, pulmonic stenosis, double outlet right ventricle, tetralogy of Fallot, dextrocardia, and transposition of the great vessels. [2]
Most cases of pentalogy of Cantrell are idiopathic (no known cause). However, some cases have been described with a genetic linkage to a locus at Xq25-q26.1. [3]
Pentalogy of Cantrell occurs in 1/65,000 to 1/200,000 live births. [2]
It was first characterized in 1958. [4]
A 2010 study concluded that the 13th-century Christian saint Rose of Viterbo died of complications of Pentalogy of Cantrell. [5]
Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often present on the abdomen of those with the disorder.
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:
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 inelastic connective tissue, and an inner layer made of serous membrane. It encloses the pericardial cavity, which contains pericardial fluid, and defines the middle mediastinum. It separates the heart from interference of other structures, protects it against infection and blunt trauma, and lubricates the heart's movements.
The thoracic diaphragm, or simply the diaphragm, is a sheet of internal skeletal muscle in humans and other mammals that extends across the bottom of the thoracic cavity. The diaphragm is the most important muscle of respiration, and separates the thoracic cavity, containing the heart and lungs, from the abdominal cavity: as the diaphragm contracts, the volume of the thoracic cavity increases, creating a negative pressure there, which draws air into the lungs. Its high oxygen consumption is noted by the many mitochondria and capillaries present; more than in any other skeletal muscle.
An omphalocele or omphalocoele, also known as an 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 the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure.
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 common ventricle. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.
Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation.
The VACTERL association refers to a recognized group of birth defects which tend to co-occur. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.
Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands and often causes heart problems. The syndrome may include an absent radial bone in the forearm, an atrial septal defect in the heart, or heart block. It affects approximately 1 in 100,000 people.
Ectopia cordis 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 a spectrum of anatomical locations, including the neck, chest, or abdomen. In most cases, the heart protrudes outside the chest through a split sternum.
Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs to enter into the thoracic cavity. In the majority of people, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side.
Diaphragmatic rupture is a tear of the diaphragm, the muscle across the bottom of the ribcage that plays a crucial role in breathing. Most commonly, acquired diaphragmatic tears result from physical trauma. Diaphragmatic rupture can result from blunt or penetrating trauma and occurs in about 0.5% of all people with trauma.
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown. This disease is also known as:
XK aprosencephaly is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia, and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).
Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.