What congenital heart disease is associated with Noonan syndrome?

Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis) and thickening of the ventricular heart muscle (hypertrophic cardiomyopathy).

How are noonans diagnosed?

In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test won’t rule out Noonan syndrome.

Is Noonan syndrome life threatening?

Outlook. Noonan syndrome can range from being very mild to severe and life-threatening. In many cases, the problems associated with the condition can be successfully treated at a young age or become less prominent over time.

What are the long term effects of Noonan syndrome?

What is already known on this topic. Noonan syndrome is a relatively common multiple congenital abnormality syndrome which is well characterised in children. Congenital heart disease, short stature and feeding difficulties are common features, which may have long‐term sequelae.

When should you suspect Noonan syndrome?

The diagnosis of Noonan syndrome should be considered in all fetuses with a normal karyotype and increased nuchal translucency, especially when cardiac anomaly, polyhydramnios, and/or multiple effusions are observed.

What is the average lifespan of a person with Noonan syndrome?

It is one of the most common non-chromosomal disorders in children with congenital heart disease, with an estimated prevalence worldwide of 1 in 1000-2500. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.

What is the average lifespan of someone with Noonan syndrome?

What is mild Noonan syndrome?

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

What are the effects of Noonan syndrome?

Noonan Syndrome is a genetic condition that can affect the heart, growth, blood clotting, mental and physical development. Affected individuals may have behavior problems, learning difficulties and many other anomalies.

Does Noonan syndrome have a cure?

Individuals with Noonan Syndrome have unusual facial characteristics, short stature, heart defects, other physical abnormalities and possibly lower intelligence. Currently, there is no cure for Noonan Syndrome.

Noonan Syndrome is not associated with any particular geographic region or ethnic group. While Noonan syndrome is not life-threatening, if you have the condition you may experience associated illnesses, including heart disease, bleeding disorders, and some types of cancer at some point during your lifetime.

How does Noonan syndrome affect the body?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.