A genetic disorder called “Brickers-Adams-Edwards syndrome” or “X-linked hydrocephalus” has been discovered that leads to aqueductal stenosis. This disease is transmitted from mother to son. This disorder is caused by a point mutation in the gene for neural cell adhesion. Most males born with this have severe hydrocephalus, adducted thumbs, spastic motions, and intellectual problems. Females with this defect may have adducted thumbs or subnormal intelligence.

Bacterial meningitis can also result in gliotic blockage of the aqueduct. In utero infection or infection during infancy could both result in glial cell build up to make an obstruction.

In cases of aqueductal stenosis caused by tumor compression, a brain tumor in the region of the midbrain forms. More specific anatomically, a tumor forms in the pineal region which is dorsal to the midbrain and is level with the aqueduct of Sylvius. As the tumor grows and expands, it compresses the aqueduct to eventually obstruct it.

Subglottic stenosis is a congenital or acquired narrowing of the subglottic airway. Although it is relatively rare, it is the third most common congenital airway problem (after laryngomalacia and vocal cord paralysis). Subglottic stenosis can present as a life-threatening airway emergency. It is imperative that the otolaryngologist be an expert at dealing with the diagnosis and management of this disorder. Subglottic stenosis can affect both children and adults.

Subglottic stenosis can be of three forms, namely congenital subglottic stenosis, idiopathic subglottic stenosis (ISS) and acquired subglottic stenosis. As the name suggests, congenital subglottic stenosis is a birth defect. Idiopathic subglottic stenosis is a narrowing of the airway due to an unknown cause. Acquired subglottic stenosis generally follows as an after-effect of airway intubation, and in extremely rare cases as a result of gastroesophageal reflux disease (GERD).

Subglottic stenosis is graded according to the Cotton-Meyer classification system from one to four based on the severity of the blockage.

Grade 1 – <50% obstruction

Grade 2 – 51–70% obstruction

Grade 3 – 71–99% obstruction

Grade 4 – no detectable lumen

Treatments to alleviate the symptoms of subglottic stenosis includes a daily dose of steroids such as prednisone, which reduces the inflammation of the area for better breathing. Other medications such as Methotrexate is also being tested by patients but results are pending.

Males are more commonly affected than females, with firstborn males affected about four times as often, and there is a genetic predisposition for the disease. It is commonly associated with people of Scandinavian ancestry, and has multifactorial inheritance patterns. Pyloric stenosis is more common in Caucasians than Hispanics, Blacks, or Asians. The incidence is 2.4 per 1000 live births in Caucasians, 1.8 in Hispanics, 0.7 in Blacks, and 0.6 in Asians. It is also less common amongst children of mixed race parents. Caucasian male babies with blood type B or O are more likely than other types to be affected.

Infants exposed to erythromycin are at increased risk for developing hypertrophic pyloric stenosis, especially when the drug is taken around two weeks of life and possibly in late pregnancy and through breastmilk in the first two weeks of life.

The epidemiology of pulmonary valve stenosis can be summed up by the congenital aspect which is the majority of cases, in broad terms PVS is rare in the general population.

Bicuspid aortic valves are the most common cardiac valvular anomaly, occurring in 1–2% of the general population. It is twice as common in males as in females.

Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. Its heritability (formula_1) is as high as 89%. Both familial clustering and isolated valve defects have been documented. The incidence of bicuspid aortic valve can be as high as 10% in families affected with the valve problem..Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. Other congenital heart defects are associated with bicuspid aortic valve at various frequencies, including coarctation of the aorta.

Frisch & Simonsen (2016) carried out a very large scale study in Denmark, which compared the incidence of meatal stenosis in Muslim males (mostly circumcised) with the incidence of meatal stenosis in ethnic Danish males (mostly non-circumcised). The risk of meatal stenosis in circumcised males was found to be as much 3.7 times higher than in the intact, non-circumcised males.

Laryngotracheal stenosis refers to abnormal narrowing of the central air passageways. This can occur at the level of the larynx, trachea, carina or main bronchi.

In a small number of patients narrowing may be present in more than one anatomical location.

The resulting syndrome depends on the structure affected.

Examples of vascular stenotic lesions include:

- Intermittent claudication (peripheral artery stenosis)

- Angina (coronary artery stenosis)

- Carotid artery stenosis which predispose to (strokes and transient ischaemic episodes)

- Renal artery stenosis

The types of stenoses in heart valves are:

- Pulmonary valve stenosis, which is the thickening of the pulmonary valve, therefore causing narrowing

- Mitral valve stenosis, which is the thickening of the mitral valve (of the left heart), therefore causing narrowing

- Tricuspid valve stenosis, which is the thickening of the tricuspid valve (of the right heart), therefore causing narrowing

- Aortic valve stenosis, which is the thickening of the aortic valve, therefore causing narrowing

Stenoses/strictures of other bodily structures/organs include:

- Pyloric stenosis (gastric outflow obstruction)

- Lumbar, cervical or thoracic spinal stenosis

- Subglottic stenosis (SGS)

- Tracheal stenosis

- Obstructive jaundice (biliary tract stenosis)

- Bowel obstruction

- Phimosis

- Non-communicating hydrocephalus

- Stenosing tenosynovitis

- Atherosclerosis

- Esophageal stricture

- Achalasia

- Prinzmetal angina

- Vaginal stenosis

Pyloric stenosis seems to be multifactorial, with some genetic and some environmental components. It is four times more likely to occur in males, and is also more common in the first born. Rarely, infantile pyloric stenosis can occur as an autosomal dominant condition.

It is uncertain whether it is a congenital anatomic narrowing or a functional hypertrophy of the pyloric sphincter muscle.

Preexisting diabetes mellitus of a pregnant mother is a risk factor that has been described for the fetus having TGV.

Laryngotracheal stenosis is an umbrella term for a wide and heterogeneous group of very rare conditions. The population incidence of adult post-intubation laryngotracheal stenosis which is the commonest benign sub-type of this condition is approximately 1 in 200,000 adults per year. The main causes of adult laryngotracheal stenosis are:

Aortic stenosis in the Rottweiler appears to be true subvalvular aortic stenosis (SAS), similar to that in the Newfoundland dog, as opposed to the valvular form (seen more in boxer dogs) or the supravalvular form sometimes seen in people.

Numerous studies over a long period of time clearly indicate that male circumcision contributes to the development of urethral stricture. Among circumcised males, reported incidence of meatal stricture varies. Griffiths "et al". (1985) reported an incidence of 2.8 percent. Sörensen & Sörensen (1988) reported 0 percent. Cathcart "et al". (2006) reported an incidence of 0.55 percent. Yegane "et al". (2006) reported an incidence of 0.9 percent. Van Howe (2006) reported an incidence of 7.29 percent. In Van Howe's study, all cases of meatal stenosis were among circumcised boys. Simforoosh "et al". (2010) reported an incidence of 0.55 percent. According to Emedicine (2016), the incidence of meatal stenosis runs from 9 to 20 percent. Frisch & Simonsen (2016) placed the incidence at 5 to 20 percent of circumcised boys.

Dextrocardia is believed to occur in approximately 1 in 12,019 pregnancies.

A Japanese study of 1,753 fetal cardiac echocardiograms over five years only revealed two cases.

A left ventricular outflow tract obstruction (LVOTO) may be due to a defect in the aortic valve, or a defect located at the subvalvar or supravalvar level.

- Aortic valve stenosis

- Supravalvar aortic stenosis

- Coarctation of the aorta

- Hypoplastic left heart syndrome

Treatment is symptomatic, often addressing indicators associated with peripheral pulmonary artery stenosis. Laryngotracheal calcification resulting in dyspnea and forceful breathing can be treated with bronchodilators including the short and long-acting β2-agonists, and various anticholinergics. Prognosis is good, yet life expectancy depends on the severity and extent of diffuse pulmonary and arterial calcification.

The following table includes the main types of valvular stenosis and regurgitation. Major types of valvular heart disease not included in the table include mitral valve prolapse, rheumatic heart disease and endocarditis.

Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis

In terms of treatment for pulmonary valve stenosis, valve replacement or surgical repair (depending upon whether the stenosis is in the valve or vessel) may be indicated. If the valve stenosis is of congenital origin, balloon valvuloplasty is another option, depending on the case.

Valves made from animal or human tissue (are used for valve replacement), in adults metal valves can be used.

Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.

The treatment of choice is percutaneous balloon valvuloplasty and is done when a resting peak gradient is seen to be >60mm Hg or a mean >40mm Hg is observed.

Cor triatriatum (or triatrial heart) is a congenital heart defect where the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum) is subdivided by a thin membrane, resulting in three atrial chambers (hence the name).

Cor triatriatum represents 0.1% of all congenital cardiac malformations and may be associated with other cardiac defects in as many as 50% of cases. The membrane may be complete or may contain one or more fenestrations of varying size.

Cor triatrium sinistrum is more common. In this defect there is typically a proximal chamber that receives the pulmonic veins and a distal (true) chamber located more anteriorly where it empties into the mitral valve. The membrane that separates the atrium into two parts varies significantly in size and shape. It may appear similar to a diaphragm or be funnel-shaped, bandlike, entirely intact (imperforate) or contain one or more openings (fenestrations) ranging from small, restrictive-type to large and widely open.

In the pediatric population, this anomaly may be associated with major congenital cardiac lesions such as tetralogy of Fallot, double outlet right ventricle, coarctation of the aorta, partial anomalous pulmonary venous connection, persistent left superior vena cava with unroofed coronary sinus, ventricular septal defect, atrioventricular septal (endocardial cushion) defect, and common atrioventricular canal. Rarely, asplenia or polysplenia has been reported in these patients.

In the adult, cor triatriatum is frequently an isolated finding.

Cor triatriatum dextrum is extremely rare and results from the complete persistence of the right sinus valve of the embryonic heart. The membrane divides the right atrium into a proximal (upper) and a distal (lower) chamber. The upper chamber receives the venous blood from both vena cavae and the lower chamber is in contact with the tricuspid valve and the right atrial appendage.

The natural history of this defect depends on the size of the communicating orifice between the upper and lower atrial chambers. If the communicating orifice is small, the patient is critically ill and may succumb at a young age (usually during infancy) to congestive heart failure and pulmonary edema. If the connection is larger, patients may present in childhood or young adulthood with a clinical picture similar to that of mitral stenosis. Cor triatriatum may also be an incidental finding when it is nonobstructive.

The disorder can be treated surgically by removing the membrane dividing the atrium.

If untreated, severe symptomatic aortic stenosis carries a poor prognosis with a 2-year mortality rate of 50-60% and a 3-year survival rate of less than 30%. Prognosis after aortic valve replacement for people who are younger than 65 is about five years less than that of the general population; for people older than 65 it is about the same.

Congenital stenosis of vena cava is a congenital anomaly in which the superior vena cava or inferior vena cava has an aberrant interruption or coarctation.

In some cases, it can be asymptomatic, and in other cases it can lead to fluid accumulation and cardiopulmonary collapse.