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Meghan McKinnon

on 17 November 2016

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Transcript of N

Thank You!
Caused by a defect in chromosome 22 or 22q11.2
Where one copy of the chromosome contains a segment missing with 30-40 genes on it.
Most common microdeletion syndrome affecting 90% of patients.
Clinical Presentations
Poor circulation (cyanotic skin colouring)
Breathing difficulties
Frequent Infections (due to poor T cell production and function
Underdeveloped facial features
Twitching or Spasms
Cleft Palate- opening in the roof of the mouth with or without a cleft lip.
Hypoparathyroidism caused by hypocalcemia. hypocalcemia can also cause seizures.
Delayed speech and growth.
Feeding dificulties.
Hypocalcemia often leads to QTc Prolongation
Arrhythmias are uncommon but Atrial Fibrillation reported with hypocalcemia
Noonan Syndrome
DiGeorge Syndrome & Noonan Syndrome
Genetic Heart Defects
DiGeorge Syndrome
Lifelong condition.
Primarily affects infants and children.
Microdeletion can occur during fertilization or fetal development.
Occurs in approximately 1 in 4,000 births and the incidence is increasing.
Those with DGS have no thymus or parathyroid glands.
Cardiac Presentations
Heart defects; insufficient supply of oxygen rich blood.
( ventricular septal defects)
Truncus Arteriosus
- when the right and left ventricules empty into a common vessel rather then the aorta and pulmonary artery. Oxygen rich and poor blood mix.
Tetralogy of Fallot
- obstruction to the pulmonary artery and a VSD send a combination of oxygen rich and poor blood through the aorta.
Diagnostic Testing
Diagnosis made based on signs and symptoms present at birth along with a genetic test to confirm
Blood tests are done called
(Fluorescent In Situ Hybridization)
- confirms diagnosis & if chromosome 22 has been deleted

There is no real cure, but there are treatments to correct calcium levels and heart defects
surgery is required to repair heart and improve oxygen blood flow
Cleft palates can be surgically repaired
Hypothyroidism is managed with calcium supplements and Vitamin D
Poor T cell production is treated with bone marrow or thymus transplant
A range of therapies are avaiable for other causes such as speech therapy, developmental therapy and occupational therapy.
Keep your child vaccinated.
When diagnosed, patients should be seen by a cardiologist. Those found without defects should be seen every 5 months for follow up.
Is Acquired as a dominant genetic mutation from a parent or a spontaneous mutation.
8 known genes can cause Noonan's.
Males and females are equally affected.
Present at birth.
Known as the 2nd most common cause of congenital heart disease after Down's syndrome.
Affects 1 in 1000-2500 births.
Clinical Presentations
Hyperelasticity of the skin
Webbing of the neck
short stature
High arched palate
Cardiovascular abnormailities:
- Pulmonary stenosis;
pulmonary valve stenosis

- Supravalvular pumonary artery stenosis
- Atrial Septal Defect (ASD)
- Coarctation of the aorta
- Ventricular septal defect (VSD)
Hypertrophy (LVH)
- Tetralogy of Fallot
One or more cardiac defects occur in 80 % of patients

Ptosis- drooping of eyelid
Shortened 4th metacarpals
*Most common
Tests and Diagnosis
There is no specific treatment. The focus is on controlling the disease symptoms and complications.
Growth horomone may be used for patients with short stature.
Signs and symptoms may be observed. Sometimes diagnosis is not made until the patient has reached adulthood or when a person has had a child more affected by the condition.
Molecular genetic testing helps with diagnosis
Treatment and symptoms depends on type and severity of the disease.
Many health and physical symptoms that are associated with the disease are treated the same as those without Noonan's syndrome.
Certain drugs may be effective in treating Heart problems. As well as valvuloplasty/ valve repair surgery should they be affected as well.
of a patient with Noonan's has a very characteristic ECG pattern
LAD- I (+) & AVF (-)
Abnormal R/S ratio in L precordial leads
Features are characteristic of the syndrome and not the cardiac defects present
3 month old
little R over L precordials
Facial phenotype is impacted.
Infants may be difficult to distinguish with facial features alone but the phenotype becomes more apparent as the patient ages.
It may be subtle
Closer examination of the parent may show that the child suffers from a mild form of the syndrome.

- Merck Manual Sixteenth Edition. pg 2230

- http://www.mayoclinic.org/diseases-conditions/noonan-syndrome/basics/definition/con-20028908

- http://link.springer.com/article/10.1007/s00431-008-0670-9

- Raaijmakers, R., Noordam, C., Noonan, J.A. et al. Eur J Pediatr (2008) 167: 1363. doi:10.1007/s00431-008-0670-9

- http://emedicine.medscape.com/article/947504-overview?pa=AGALqEzcELQDcHrEsDNJ6wDvmpRAZNapUeizNaxXEtr87na93Zoic%2B8UMkmXMMbyLpRI5mHxES9XwdY2hi%2F313f7Bj2Gvk6BKC47oRZ1BB8%3D

- https://pedclerk.bsd.uchicago.edu/page/noonan-syndrome

- http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/definition/con-20031464

- http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome/
1. DGS is caused by a defect in
A) 22

B) 16

C) 21
2. Noonan's is an autosomal
recessive syndrome;
A) True

B) False
3. What is the 2nd most common
cause of congenital heart disease
after Down Syndrome?
A) DiGeorge Syndrome

B) Noonan Syndrome
By: Meghan McKinnon
Ivona Bek
Yvonne Finlayson
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