Genetic Heart Disease Flashcards
What are the main teratogens behind genetic heart disease?
FARM
- Foetal Alcohol
- Anti-Convulsants
- Rubella
- Maternal Diabetes
What is the mutation behind Down’s Syndrome?
Trisomy 21
What are the effects of Down’s Syndrome
Cardiac: Associated with ASD/VSD/Tetralogy/PDA
Other: Duodenal Atresia - Facial Characteristics - Intellectual disability - Growth delays
What are the effects of Turner’s Syndrome?
Cardiac: Coarctation of the Aorta
Other: Neck Webbing - Gonadyl Dysgenesis - Short Stature - All female - Puffy Hands
What is the mutation behind Turner’s Syndrome?
45,X
What is the mutation behind Williams Syndrome?
Elastin Gene deletion of Chromosome 7
What are the signs of williams syndrome?
Cardiac: Aortic Stenosis
Other: Face - Hypercalcaemia
What is the mutation behind Noonan Syndrome & Costello Syndrome?
PTPN11 gene mutation on chromosome 12
Effects of Noonan and [Costello Syndromes]?
Cardiac: Pulm Stenosis + [Cardiomyopathy]
Other: Cryptorchidism - Short - Face - Neck Webbing [Thick Skin Folds]
What is the mutation behind Digeorge Syndrome?
22q11 microdeletion
Effects of DIgeorge Syndrome?
CATCH22
Cardiac: PTA/Tetralogy/VSD
Other: Abnormal Facies - Thymic Hypoplasia - Cleft Palate - Hypothyroidism - Increased likelihood of psychiatric disorders e.g. bipolar, schizo, depression
What id Brugada Syndrome?
A familial Arrythmia
ST elevation and episodic Vfib and Vtac
What is Romano-Ward Syndrome?
The most common variation of Long QT Syndromes, a familial arrythmia.
Efects of Romano-ward syndrome?
- Long QT & T wave abnormalities
- Episodic Vtac, Vfib & Torsades de Pointes
Brought on by emotion, drugs or exercise:: Appears as syncope, ‘seizures’ & sudden death
How do we treat Long QT syndrome?
K+ Supplements
Na+ Channel Blockers - Type 1b anti arrythmics
