Pectus excavatum occurs in an estimated 1 in 150 to 1 in 1000 births, with male predominance (male-to-female ratio of 3:1). In 35% to 45% of cases family members are affected.

Researchers are unsure of the cause of pectus excavatum but assume that there is a genetic component for at least some of the cases as 37% of individuals have an affected first degree family member. As of 2012, a number of genetic markers for pectus excavatum have also been discovered.

Pectus excavatum is a relatively common symptom of Noonan syndrome, Marfan syndrome and Loeys-Dietz syndrome and sometimes is found in other connective tissue disorders such as Ehlers–Danlos Syndrome. Many children with spinal muscular atrophy develop pectus excavatum due to their diaphragmatic breathing. Pectus excavatum also occurs in about 1% of persons diagnosed with celiac disease for unknown reasons.

After adolescence, some men and women use bodybuilding as a means to hide their malformation. Some women find that their breasts, if large enough, serve the same purpose. Some plastic surgeons perform breast augmentation to disguise mild to moderate cases in women. Bodybuilding is suggested for people with symmetrical pectus carinatum.

Pectus malformations are common; about 1 in 400 people have a pectus disorder.

Pectus carinatum is rarer than pectus excavatum, another pectus disorder, occurring in only about 20% of people with pectus malformations. About four out of five patients are males.

Physiologically, increased pressure "in utero", rickets and increased traction on the sternum due to abnormalities of the diaphragm have been postulated as specific mechanisms. Because the heart is located behind the sternum, and because individuals with pectus excavatum have been shown to have visible deformities of the heart seen both on radiological imaging and after autopsies, it has been hypothesized that there is impairment of function of the cardiovascular system in individuals with pectus excavatum. While some studies have demonstrated decreased cardiovascular function, no consensus has been reached based on newer physiological tests such as echocardiography of the presence or degree of impairment in cardiovascular function. Similarly, there is no consensus on the degree of functional improvement after corrective surgery; A 2013 meta-analysis yielded conflicting results.

A significant complication of diaphragmatic rupture is traumatic diaphragmatic herniation: organs such as the stomach that herniate into the chest cavity and may be strangulated, losing their blood supply. Herniation of abdominal organs is present in 3–4% of people with abdominal trauma who present to a trauma center.

Diaphragmatic injuries are present in 1–7% of people with significant blunt trauma and an average of 3% of abdominal injuries.

A high body mass index may be associated with a higher risk of diaphragmatic rupture in people involved in vehicle accidents. It is rare for the diaphragm alone to be injured, especially in blunt trauma; other injuries are associated in as many as 80–100% of cases. In fact, if the diaphragm is injured, it is an indication that more severe injuries to organs may have occurred. Thus, the mortality after a diagnosis of diaphragmatic rupture is 17%, with most deaths due to lung complications. Common associated injuries include head injury, injuries to the aorta, fractures of the pelvis and long bones, and lacerations of the liver and spleen. Associated injuries occur in over three quarters of cases.

According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. The incidence is estimated to range from one in 7,000 to one in 100,000 live births.

The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.

The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.

Congenital vertebral anomalies are a collection of malformations of the spine. Most around 85% are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.

Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis).

Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. The most common location is the midthoracic vertebrae, especially the eighth (T8). Neurologic signs result from severe angulation of the spine, narrowing of the spinal canal, instability of the spine, and luxation or fracture of the vertebrae. Signs include rear limb weakness or paralysis, urinary or fecal incontinence, and spinal pain. Most cases of hemivertebrae have no or mild symptoms, so treatment is usually conservative. Severe cases may respond to surgical spinal cord decompression and vertebral stabilization.

Associations

Recognised associations are many and include:

Aicardi syndrome,

cleidocranial dysostosis,

gastroschisis 3,

Gorlin syndrome,

fetal pyelectasis 3,

Jarcho-Levin syndrome,

OEIS complex,

VACTERL association.

The probable cause of hemivertebrae is a lack of blood supply causing part of the vertebrae not to form.

Hemivertebrae in dogs are most common in the tail, resulting in a screw shape.

The death rate of people with flail chest depends on the severity of their condition, ranging from 10 to 25%.

While the true causes of Tietze's syndrome are not well understood, it often results from a physical strain or minor injury, such as repeated coughing, sneezing, vomiting, or impacts to the chest. It has even been known to occur after hearty bouts of laughter. It can occur by over exerting or by an injury in the chest and breast.

Psychological stress can exacerbate Tietze's syndrome, but there is no evidence to suggest that it is a direct cause.

Patients who have had radiation therapy to the chest/breast will often experience this syndrome which can occur shortly after therapy or years later.

It is found more often in teens than adults.

Rib fractures can occur with or without direct trauma during recreational activity. Cardiopulmonary resuscitation (CPR) has also been known to cause thoracic injury, including but not limited to rib and sternum fractures. They can also occur as a consequence of diseases such as cancer or rheumatoid arthritis. While for elderly individuals a fall can cause a rib fracture, in adults automobile accidents are a common event for such an injury.

Approximately 1 out of 13 people admitted to the hospital with fractured ribs are found to have flail chest.

Because of the high frequency of associated injuries, clinicians are taught to suspect that a patient has multiple severe injuries if a sternal fracture is present. Sternal fracture is commonly associated with injuries to the heart and lungs; if a person is injured with enough force to fracture the sternum, injuries such as myocardial and pulmonary contusions are likely. Other associated injuries that may occur include damage to blood vessels in the chest, myocardial rupture, head and abdominal injuries, flail chest, and vertebral fracture. Sternal fractures may also accompany rib fractures and are high-energy enough injuries to cause bronchial tears (ruptures of the bronchioles). They may hinder breathing. Due to the associated injuries, the mortality rate for people with sternal fracture is high, at an estimated 25–45%. However, when sternal fractures occur in isolation, their outcome is very good.

There is controversy over the question of whether the presence of sternal fracture is an indication of cardiac injuries.

Scapular fracture is present in about 1% of cases of blunt trauma and 3–5% of shoulder injuries. An estimated 0.4–1% of bone fractures are scapular fractures.

The injury is associated with other injuries 80–90% of the time. Scapular fracture is associated with pulmonary contusion more than 50% of the time. Thus when the scapula is fractured, other injuries such as abdominal and chest trauma are automatically suspected. People with scapular fractures often also have injuries of the ribs, lung, and shoulder. Pneumothorax (an accumulation of air in the space outside the lung), clavicle fractures, and injuries to the blood vessels are among the most commonly associated injuries. The forces involved in scapular fracture can also cause tracheobronchial rupture, a tear in the airways. Fractures that occur in the scapular body are the type most likely to be accompanied by other injuries; other bony and soft tissue injuries accompany these fractures 80–95% of the time. Associated injuries can be serious and potentially deadly, and usually it is the associated injuries, rather than the scapular fracture, that have the greatest effect on the outcome. Scapular fractures can also occur by themselves; when they do, the death rate (mortality) is not significantly increased.

The mean age of people affected is 35–45 years.

Vehicle collisions are the usual cause of sternal fracture; the injury is estimated to occur in about 3% of auto accidents. The chest of a driver who is not wearing a seat belt may strike the steering wheel, and the shoulder component of a seatbelt may injure the chest if it is worn without the lap component. It was common enough for the sternum to be injured by the seatbelt that it was included in the 'safety belt syndrome', a pattern of injuries caused by seat belts in vehicle accidents.

The injury can also occur when the chest suddenly flexes, in the absence of an impact. In the case of an injury sustained during CPR, the most common injuries sustained are rib fractures, with literature suggesting an incidence between 13% and 97%, and sternal fractures, with an incidence between 1% to 43%. Additionally, injury to the sternum may be made more likely if there are other disease processes in place that have weakened the bone - in this case, the fracture that occurs is termed a pathologic fracture.

Tietze syndrome (also called chondropathia tuberosa or costochondral junction syndrome) is a benign inflammation of one or more of the costal cartilages. It was first described in 1921 by the German surgeon Alexander Tietze (1864–1927).

Tietze syndrome is not the same as costochondritis. Tietze syndrome is differentiated from costochondritis by swelling of the costal cartilages, which does not appear in costochondritis. Like costochondritis, it was at one time thought to be associated with, or caused by, a viral infection acquired during surgery. This is now known not to be the case, as most sufferers have not had recent surgery.

Signs one may have a broken rib are:

- Pain on inhalation

- Swelling in chest area

- Bruise in chest area

- Increasing shortness of breath

- Coughing up blood (rib may have damaged lung)

Because children have more flexible chest walls than adults do, their ribs are more likely to bend than to break; therefore the presence of rib fractures in children is evidence of a significant amount of force and may indicate severe thoracic injuries such as pulmonary contusion. Rib fractures are also a sign of more serious injury in elderly people.

Esophageal rupture in Boerhaave syndrome is thought to be the result of a sudden rise in internal esophageal pressure produced during vomiting, as a result of neuromuscular incoordination causing failure of the cricopharyngeus muscle (a sphincter within the esophagus) to relax. As the intra-oesophageal pressure increases, the bolus within the oesophagus has nowhere to go superiorly (as the cricopharyngeus fails to relax) which causes the oesophagus to rupture. (this makes little sense and should be justified if true: the lesion is down, the cricopharyngeus is up). The syndrome is commonly associated with the consumption of excessive food and/or alcohol as well as eating disorders such as bulimia.

The most common anatomical location of the tear in Boerhaave syndrome is at left posterolateral wall of the lower third of the esophagus, 2–3 cm before the stomach.

Currently, the most common cause of esophageal perforation is iatrogenic. However, iatrogenic perforations, while still constituting a serious medical condition, are easier to treat and less prone to complications, particularly mediastinitis and sepsis. This is because they usually do not involve contamination of the mediastinum with gastric contents.

Rupture of the trachea or bronchus is the most common type of blunt injury to the airway. It is difficult to determine the incidence of TBI: in as many as 30–80% of cases, death occurs before the person reaches a hospital, and these people may not be included in studies. On the other hand, some TBI are so small that they do not cause significant symptoms and are therefore never noticed. In addition, the injury sometimes is not associated with symptoms until complications develop later, further hindering estimation of the true incidence. However, autopsy studies have revealed TBI in 2.5–3.2% of people who died after trauma. Of all neck and chest traumas, including people that died immediately, TBI is estimated to occur in 0.5–2%. An estimated 0.5% of polytrauma patients treated in trauma centers have TBI. The incidence is estimated at 2% in blunt chest and neck trauma and 1–2% in penetrating chest trauma. Laryngotracheal injuries occur in 8% of patients with penetrating injury to the neck, and TBI occurs in 2.8% of blunt chest trauma deaths. In people with blunt trauma who do reach a hospital alive, reports have found incidences of 2.1% and 5.3%. Another study of blunt chest trauma revealed an incidence of only 0.3%, but a mortality rate of 67% (possibly due in part to associated injuries). The incidence of iatrogenic TBI (that caused by medical procedures) is rising, and the risk may be higher for women and the elderly. TBI results about once every 20,000 times someone is intubated through the mouth, but when intubation is performed emergently, the incidence may be as high as 15%.

The mortality rate for people who reach a hospital alive was estimated at 30% in 1966; more recent estimates place this number at 9%. The number of people reaching a hospital alive has increased, perhaps due to improved prehospital care or specialized treatment centers. Of those who reach the hospital alive but then die, most do so within the first two hours of arrival. The sooner a TBI is diagnosed, the higher the mortality rate; this is likely due to other accompanying injuries that prove fatal.

Accompanying injuries often play a key role in the outcome. Injuries that may accompany TBI include pulmonary contusion and laceration; and fractures of the sternum, ribs and clavicles. Spinal cord injury, facial trauma, traumatic aortic rupture, injuries to the abdomen, lung, and head are present in 40–100%. The most common accompanying injury is esophageal perforation or rupture (known as Boerhaave syndrome), which occurs in as many as 43% of the penetrating injuries to the neck that cause tracheal injury.

Barrel chest generally refers to a , deep chest found on a man. A man described as barrel chested will usually have a naturally large ribcage, very round torso, large lung capacity, and can potentially have great upper body strength. It can sometimes be a sign of acromegaly (a syndrome resulting from excess levels of human growth hormone (HGH) in the body). It is most commonly related to osteoarthritis as individuals age. Arthritis can stiffen the chest causing the ribs to become fixed in their most expanded position, giving the appearance of a barrel chest.

Barrel chest also refers to an increase in the anterior posterior diameter of the chest wall resembling the shape of a barrel, most often associated with emphysema. There are two main causes of the barrel chest phenomenon in emphysema:

1. Increased compliance of the lungs leads to the accumulation of air pockets inside the thoracic cavity.

2. Increased compliance of the lungs increases the intrathoracic pressure. This increase in pressure allows the chest wall to naturally expand outward.

Barrel chest occurs naturally in native people who live at altitudes of over 5500 m, e.g. the Himalayas or the Andes. These natives also have polycythemia and other accommodations for high altitude life.

Injuries to the tracheobronchial tree within the chest may occur due to penetrating forces such as gunshot wounds, but are more often the result of blunt trauma. TBI due blunt forces usually results from high-energy impacts such as falls from height and motor vehicle accidents; the injury is rare in low-impact mechanisms. Injuries of the trachea cause about 1% of traffic-related deaths. Other potential causes are falls from high places and injuries in which the chest is crushed. Explosions are another cause.

Gunshot wounds are the commonest form of penetrating trauma that cause TBI. Less commonly, knife wounds and shrapnel from motor vehicle accidents can also penetrate the airways. Most injuries to the trachea occur in the neck, because the airways within the chest are deep and therefore well protected; however, up to a quarter of TBI resulting from penetrating trauma occurs within the chest. Injury to the cervical trachea usually affects the anterior (front) part of the trachea.

Certain medical procedures can also injure the airways; these include tracheal intubation, bronchoscopy, and tracheotomy. The back of the trachea may be damaged during tracheotomy. TBI resulting from tracheal intubation (insertion of a tube into the trachea) is rare, and the mechanism by which it occurs is unclear. However, one likely mechanism involves an endotracheal tube catching in a fold of membrane and tearing it as it is advanced downward through the airway. When an endotracheal tube tears the trachea, it typically does so at the posterior (back) membranous wall. Unlike TBI that results from blunt trauma, most iatrogenic injuries to the airway involve longitudinal tears to the back of the trachea or tears on the side that pull the membranous part of the trachea away from the cartilage. Excessive pressure from the cuff of an endotracheal tube can reduce blood supply to the tissues of the trachea, leading to ischemia and potentially causing it to become ulcerated, infected, and, later, narrowed.

The mucosal lining of the trachea may also be injured by inhalation of hot gases or harmful fumes such as chlorine gas. This can lead to edema (swelling), necrosis (death of the tissue), scar formation, and ultimately stenosis. However, TBI due to inhalation, foreign body aspiration, and medical procedures is uncommon.

With the exception of a few case reports describing survival without surgery, the mortality of untreated Boerhaave syndrome is nearly 100%. Its treatment includes immediate antibiotic therapy to prevent mediastinitis and sepsis, surgical repair of the perforation, and if there is significant fluid loss it should be replaced with IV fluid therapy since oral rehydration is not possible. Even with early surgical intervention (within 24 hours) the risk of death is 25%.

MASS syndrome a medical disorder similar to Marfan syndrome.

MASS stands for: mitral valve prolapse, aortic root diameter at upper limits of normal for body size, stretch marks of the skin, and skeletal conditions similar to Marfan syndrome. MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome. It is caused by a similar mutation in the gene called fibrillin-1 that tells the body how to make an important protein found in connective tissue. This mutation is an autosomal dominant mutation in the FBN1 gene that codes for the extracellular matrix protein fibrillin-1; defects in the fibrillin-1 protein cause malfunctioning microfibrils that result in improper stretching of ligaments, blood vessels, and skin.

Someone with MASS phenotype has a 50 percent chance of passing the gene along to each child.

People with features of MASS Phenotype need to see a doctor who knows about connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with MASS Phenotype get an early and correct diagnosis so they can get the right treatment. Treatment options for MASS phenotype are largely determined on a case-by-case basis and generally address the symptoms as opposed to the actual disorder; furthermore, due to the similarities between these two disorders, individuals with MASS phenotype follow the same treatment plans as those with Marfan syndrome.

MASS stands for the Mitral valve, myopia, Aorta, Skin and Skeletal features of the disorder. MASS Phenotype affects different people in different ways.

In MASS Phenotype:

Mitral valve prolapse may be present. This is when the flaps of one of the heart’s valves (the mitral valve, which regulates blood flow on the left side of the heart) are “floppy” and don’t close tightly. Aortic root diameter may be at the upper limits of normal for body size, but unlike Marfan syndrome there is not progression to aneurysm or predisposition to dissection. Skin may show stretch marks unrelated to weight gain or loss (striae). Skeletal features, including curvature of the spine (scoliosis), chest wall deformities, and joint hypermobility, may be present. People with MASS Phenotype do not have lens dislocation but have myopia, also known as nearsightedness.

MASS syndrome and Marfan syndrome are overlapping connective tissue disorders. Both can be caused by mutations in the gene encoding a protein called fibrillin. These conditions share many of the same signs and symptoms including long limbs and fingers, chest wall abnormalities (indented chest bone or protruding chest bone), flat feet, scoliosis, mitral valve prolapse, loose or hypextensible joints, highly arched roof of the mouth, and mild dilatation of the aortic root.

Individuals with MASS syndrome do not have progressive aortic enlargement or lens dislocation, while people with Marfan syndrome do. Skin involvement in MASS syndrome is typically limited to stretch marks (striae distensae). Also, the skeletal symptoms of MASS syndrome are generally mild.