The causes for PWS are either genetic or unknown. Some cases are a direct result of the RASA1 gene mutations. And individuals with RASA1 can be identified because this genetic mutation always causes multiple capillary malformations. PWS displays an autosomal dominant pattern of inheritance. This means that one copy of the damaged or altered gene is sufficient to elicit PWS disorder. In most cases, PWS can occur in people that have no family history of the condition. In such cases the mutation is sporadic. And for patients with PWS with the absence of multiple capillary mutations, the causes are unknown.

According to Boston’s Children Hospital, no known food, medications or drugs can cause PWS during pregnancy. PWS is not transmitted from person to person. But it can run in families and can be inherited. PWS effects both males and females equally and as of now no racial predominance is found

At the moment, there are no known measures that can be taken in order to prevent the onset of the disorder. But Genetic Testing Registry can be great resource for patients with PWS as it provides information of possible genetic tests that could be done to see if the patient has the necessary mutations. If PWS is sporadic or does not have RASA1 mutation then genetic testing will not work and there is not a way to prevent the onset of PWS.

According to NIH clinical trials.gov, research on the port-wine stain and its relation to polymorphisms of RASA1 has commenced in November 2010 and expected to end in November 2019. The purpose of the study is to assess how the port-wine stains can lead to complex syndromes such as PWS. Currently there is little knowledge about the epidemiology of the stains and how they progress with the disease. The research is ongoing and the results are yet to be published.

In an another review published in July 2017 (discussed in treatments and prognosis), Banzic et. al. discussed clinical findings that embolization works really well in patients with PWS. Also, embolization along with surgical resection that targets arteriovenous malformations reliably leads to significant clinical improvements.

Treatment involves revascularization typically using either angioplasty or a type of vascular bypass

- Kissing balloon angioplasty +/- stent, so named because the two common iliac stents touch each other in the distal aorta.

- Aorto-iliac bypass graft

- Axillary-bi-femoral and femoral-femoral bypass (sometimes abbreviated "ax-fem fem-fem")

PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pay close attention to how these children develop throughout the school age period.

PHACE Syndrome Handbook - Dr. Beth Drolet

In 2013, the PHACE Syndrome Community was formed. The non-profit entity was developed to raise awareness about the condition, support patients and families of those with the condition and raise money for research into causes and treatment.

Good peer to peer support is available on Facebook. For new and existing parents The group, Transposition of the Great Arteries

For ADULT survivors of D-TGA the Facebook group Mustard or Senning Survivors, gathers several hundred global survivors in their 20s to 50s into a single community. Supporting ADULTS born with TGA that have had a Mustard, Senning, Rastelli or Nikaidoh Heart Procedure *This group is not recommended for Parents of Arterial Switch children.

Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow. The surgery is open heart, and the patient will be placed on cardiopulmonary bypass to allow the surgeon to work on a still heart. The heart is opened and the ventricular septal defect is closed with a patch. The pulmonary arteries are then detached from the common artery (truncus arteriosus) and connected to the right ventricle using a tube (a conduit or tunnel). The common artery, now separated from the pulmonary circulation, functions as the aorta with the truncal valve operating as the aortic valve. Most babies survive this surgical repair, but may require further surgery as they grow up. For example, the conduit does not grow with the child and may need to be replaced as the child grows. Furthermore, the truncal valve is often abnormal and may require future surgery to improve its function.

There have been cases where the condition has been diagnosed at birth and surgical intervention is an option. A number of these cases have survived well into adulthood.

PHACE Syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. It is an acronym that stands for the medical names of the parts of the body it often impacts:

- Posterior fossa abnormalities and other structural brain abnormalities

- Hemangioma(s) of the cervical facial region

- Arterial cerebrovascular anomalies

- Cardiac defects, aortic coarctation and other aortic abnormalities

- Eye anomalies

Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe."

In 1993, an association between large facial hemangiomas and brain defects among 9 subjects was reported. 3 years later, a larger case study was published showing a wider spectrum of grouped malformations. The association of anomalies and the PHACES acronym was first coined by Dr. Vail Reese and Dr. Ilona Frieden in 1996, making it a newly described syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head and chest, and an eye examination. PHACE is most commonly diagnosed among female infants. Long-term quality of life varies.

Hemangioma growth phase can last anywhere from 6 to 18 months. Then involution, or healing, of the hemangioma begins. Laser and other surgeries usually are able to make a substantial positive impact on appearance. Long after the hemangioma recedes, any damage it or the other defects caused, may remain. Migraines are common, as are developmental delays.

Taussig–Bing syndrome (after Helen B. Taussig and Richard Bing) is a cyanotic congenital heart defect in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD).

In DORV, instead of the normal situation where blood from the left ventricle (LV) flows out to the aorta and blood from the right ventricle (RV) flows out to the pulmonary artery, both aorta and pulmonary artery are connected to the RV, and the only path for blood from the LV is across the VSD. When the VSD is subpulmonic (sitting just below the pulmonary artery), the LV blood then flows preferentially to the pulmonary artery. Then the RV blood, by default, flows mainly to the aorta.

The clinical manifestations of a Taussig-Bing anomaly, therefore, are much like those of dextro-Transposition of the great arteries (but the surgical repair is different). It can be corrected surgically also with the arterial switch operation (ASO).

It is managed with Rastelli procedure.

If the diagnosis is made in a standard hospital or other clinical facility, the baby will be transferred to a children's hospital, if such facilities are available, for specialized paediatric treatment and equipment.

The patient will require constant monitoring and care in an intensive care unit (ICU).

The key for managing Sack–Barabas syndrome is for the patient to be aware of their disease. Close follow up and planning of interventions can significantly prolong and maintain the quality of life of a patient with this disease.

Pregnant affected women must take special care due to the increased risk of premature death due to rupture of arteries, bowel or uterine rupture with a reported mortality rate of 50%.

Genetic counselling is recommended for prospective parents with a family history of Ehlers–Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance.

According to a study in cyanotic congenital heart disease (CCHD) in Sohag University, Upper Egypt. 50 neonates were diagnosed as suffering from cyanotic congenital heart disease (CCHD), they concluded that cyanotic congenital heart disease (CCHD) frequency was significant (9.5%) with D-TGA being the commonest type. Majority of neonates with Cyanotic congenital heart disease (CCHD) showed survival with suitable management.

Persistent truncus arteriosus is a rare cardiac abnormality that has a prevalence of less than 1%.

Simple l-TGA has a very good prognosis, with many individuals being asymptomatic and not requiring surgical correction.

In a number of cases, the (technically challenging) "double switch operation" has been successfully performed to restore the normal blood flow through the ventricles.

For newborns with transposition, prostaglandins can be given to keep the ductus arteriosus open which allows mixing of the otherwise isolated pulmonary and systemic circuits. Thus oxygenated blood that recirculates back to the lungs can mix with blood that circulates throughout the body. The arterial switch operation is the definitive treatment for dextro- transposition. Rarely the arterial switch is not feasible due to particular coronary artery anatomy and an atrial switch operation is preferred.

Sack–Barabas syndrome is rare and has an estimated prevalence of 1 in 100,000 to 200,000.

The initial clinical manifestation of vascular problems in patients with SBS is early, about 25% have their first symptoms at age 20 and more than 80% of patients have had at least one complication by the age of 40.

The median survival for one study of SBS patients was only 48 years.

In medicine, aortoiliac occlusive disease, also known as Leriche's syndrome and Leriche syndrome, is a form of central artery disease involving the blockage of the abdominal aorta as it transitions into the common iliac arteries.

Some evidence suggests that indomethacin administration on the first day of life to all preterm infants reduces the risk of developing a PDA and the complications associated with PDA. Indomethacin treatment in premature infants also may reduce the need for surgical intervention.

Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome

DORV affects between 1% and 3% of people born with congenital heart defects.

Chromosomal abnormalities were reported in about 40% of reported cases in the medical literature.

Robert E. Gross, MD performed the first successful ligation of a "patent ductus arteriosus" on an eight-year-old girl at Children's Hospital Boston in 1938.

Surgical correction is indicated in all double aortic arch patients with obstructive symptoms (stridor, wheezing, pulmonary infections, poor feeding with choking). If symptoms are absent a conservative approach (watchful waiting) can be reasonable. Children with very mild symptoms may outgrow their symptoms but need regular follow-up.

The outcome of this disease is dependent on the severity of the cardiac defects. Approximately 1 in 3 children with this diagnosis require shunting for the hydrocephaly that is often a consequence. Some children require extra assistance or therapy for delayed psychomotor and speech development, including hypotonia.

3C syndrome is very rare, occurring in less than 1 birth per million. Because of consanguinity due to a founder effect, it is much more common in a remote First Nations village in Manitoba, where 1 in 9 people carries the recessive gene.

Little is known regarding the exact causes of aortic arch anomalies. However, the association with chromosome 22q11 deletion (CATCH 22) implies that a genetic component is likely in certain cases. Esophageal atresia also occurs in some patients with double aortic arch.

Microcoria is a congenital disease in which the pupils of the subject are narrower than 2 mm in diameter. Microcoria is associated with juvenile-onset glaucoma. It is also associated with Pierson syndrome chararacterized by microcoria and congenital nephrotic syndrome. The defect is in the Laminin beta 2 gene on chromosome 3p21 which encodes a protein essential to the glomerular basement membrane.

It is also part of the known manifestations of a born infant to a mother suffering from uncontrolled hyperglycemia. Other symptoms include transposition of great vessels, respiratory distress secondary to surfactant defect, sacral agensis, jitteriness, irritability, and lethargy due to rebound fetal hypoglycemia. Congenital microcoria is an autosomal dominant trait. However, it can also occur sporadically.