What Happens To Untreated Noonan Syndrome & When To Go To Doctor?

Noonan syndrome is inherited in families in an autosomal dominant condition. It is one of the most common non-chromosomal disorders in children with congenital heart disease and can range from being very mild to severe and life-threatening. Clinical theories state that it affects 1 in 1000-2500 worldwide.

Unusual cases with paternal consanguinity have been labeled, but it is not obvious that these signify true cases of autosomal recessive inheritance. In about one-third to two-thirds of families, one of the blood relations also has Noonan syndrome.

In general, all kids with Noonan disorder attain adulthood and for the most part, they are competent to lead a routine, independent lifestyle. Still, complications such as heart defects can seldom be serious and life-threatening.(1)

What Happens To Noonan Syndrome Patient When The Condition Left Untreated?

Kids with Noonan syndrome are normally a usual size at childbirth. Nevertheless, at around 2 years old you may observe that they don’t grow as rapidly as other kids of the same age. Similarly, the affected child will not attain puberty like the other normal child, it is either reduced or does not happen at all.

In order to reach normal growth, Noonan syndrome patients are treated with medications. However, when the condition is left untreated the normal grown-up height for males with Noonan syndrome is 162.5cm (5ft 3in) and females are 153cm (5ft).

For Noonan syndrome patients who have heart problems, cardiac treatment is necessitated to avoid further complications. People with Noonan disorder who do not have cardiac problems must be reassessed at least every five years, as a few heart characteristics could worsen later on in living.(2)

Conditions Left Untreated Results In The Following:

Valve Disorders- This results in one or more of the valves in your heart not working properly. When the valves are not functioning right, it can cause disruption in the blood flow and result in palpitations.

Thickening Of The Heart Muscles- Hypertrophic cardiomyopathy occurs when the heart muscles enlarge and thicken. This, in turn, blocks the blood flow flowing out of the ventricle and can cause shortness of breath with exertion, chest pain, dizziness, and fainting spells.

Structural Defects Of The Heart- A congenital heart defect condition can increase the risk of pulmonary hypertension, arrhythmias, and infective endocarditis. This disorder may not have a disruptive effect on a person’s circulatory system.

Irregular Heart Rhythm- It doesn’t necessarily mean your heart is beating too fast or too slow. It means you have unstable electrical impulses misfire and may result in the atria quivering out of control. Heart arrhythmias are often related to an increased risk of blood clots.(3)

When You Should Seek Medical Attention For Noonan Syndrome?

People with Noonan syndrome may have skin conditions and several problems affecting the color and texture of the hair and skin. Noonan syndrome may be presumed if your baby has a few or several of the signs and symptoms related to the disorder. This includes

  • Distinctive facial features (malformities with your facial width, size of the cheeks, skin color, nose shape, and a few others)
  • Short stature (when the growth of your child considerably below average compared to the height of their peers)
  • Slight learning disability (abilities that impact reading, writing, math, and organization)
  • Undescended testicles (a testicle that did not change into its appropriate position in the bag of skin hanging below the penis)
  • Lymphoedema (a chronic condition that eventually causes enlargement or swelling in the body tissues resulting in pain swelling and redness).(4,5)
  • When you suspect your child has any of these symptoms seek immediate medical attention.

References:

  1. Noonan Syndrome when left untreated https://www.your.md/condition/noonan-syndrome/
  2. Treatment and Management of Noonan Syndrome https://www.cincinnatichildrens.org/health/n/noonan
  3. The life expectancy of someone with Noonan syndrome https://www.nhs.uk/conditions/noonan-syndrome/
  4. When to see a doctor for Noonan Syndrome https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422
  5. Signs and symptoms of Noonan Syndrome https://www.medicalnewstoday.com/articles/179200.php#diagnosis_and_treatment

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