Genetics Flashcards
What can happen to the heart when someone has downs?
Atrioventicular septal defects
What percentage of cases of Downs have atrioventricular septal defects?
15%
What type of mutation is |Downs?
copy number variation
trisomy 21
What is a warning sign that can be seen in an ultrasound for downs and heart disease?
Nuchal translucency
What is a cystic hygroma?
A cystic hygroma is a cyst, or a group of cysts, found mostly in the neck. They are caused by an error in the development of lymph sacs and lymph vessels as the baby develops during pregnancy.
What are the cardiac implications for turners syndrome?
Coarctication of aorta
What are the cardiac implications for Noonan syndrome?
Pulmonary stenosis
What gene is responsible for Noonan syndrome?
PTPN11
What are the cradiac implications of costello syndrome?
Cardiomyopathy
What are the cardiac implications for 22q11 deletion syndrome?
Cardiac malformation
What does 22q11 deletion syndrome encompass?
Digeorge
Shprintzen
what are the cardiac implications of Williams syndrome?
Aortic stenosis
What are some cardiovascular connective tissue disease?
- Marfan
- Loeys-Dietz
- Ehlers Danlos
- FTAA
What is the inheritance type of Marfan Syndrome?
-Autosomal Dominant
What gene and chromosome is affected in Marfans?
- Fibrillin 1 gene
- Chromosome 15q21
What is the cardiovascular implications of Marfans syndrome?
-Aortic dissection /dilation
What happens to eyes in Marfans?
Ectopia Lentis
What is the optimal management of Marfan?
Annual
-Echocardiogram
- Beta blockers
- Angiotensin 2 receptor blockers
Prophyllactic aortic surgery
What happens is Long QT syndrome?
Myocytes take longer to recover-presents in arrhythmia
how does Long QT syndrome present itself ?
Syncope
Seizure
Sudden death
What mutation can be seen when there is a notched T-wave pattern on 12 lead ECG on arousal?
KCNH2
What mutation can be seen with a biphasic ECG t wave pattern when sleep or brady?
SCN5A
What is the prevalence of Hypertrophic cardiomyopathy?
1/500
