Genetics of Cardiovascular Disease Flashcards
What is trisomy 21?
Down syndrome
What is the main cause of Down syndrome?
Maternal non-dysjunction (usually due to age)
What 2 conditions can Down syndrome result in?
Duodenal atresia
Atrio-ventricular septal defects
What is 45,X?
Turner syndrome?
What are 5 indicators of Turner syndrome?
Coarctation of aorta
Short stature
Puffy hands
Neck webbing
What does a PTPN11 mutation result in?
Noonan syndrome
What are 4 indicators of Noonan syndrome?
Pulmonary stenosis
Short stature
Neck webbing
Characteristic face
What are 2 non Noonan-like indicators of CFC (Cardio-Facio-Cutaneous) syndrome?
Ectodermal problems
Developmental delay
What is a non Noonan-like indicators of Leopard syndrome?
Deafness
What are 2 non Noonan-like indicators of Costello syndrome?
Thickened skin folds
Wart susceptibility
What 2 syndromes does 22q11 deletion syndrome encompass?
DiGeorge syndrome
Shprintzen syndrome
What are 3 of the indicators of DiGeorge syndrome?
Thymic hypoplasia
Hypoparathroidism
Outflow tract cardiac malformation
What are 3 of the indicators of Shprintzen syndrome?
Cleft palate
Outflow tract cardiac malformation
Characteristic face
What can the deletion of elastin on chromosome 7 or of contiguous genes?
Williams syndrome
What are 4 indicators og Williams disease?
Aortic stenosis
Hypercalcaemia
5th finger clinodactyly (curvature)
Characteristic face
What are 4 examples of teratogens in fetal development?
Alcohol
Anti-epileptic drugs
Rubella
Maternal diabetes mellitus
What do mutations of the fibrillin 1 gene on chromosome 15q21 result in?
Marfan syndrome
What are indications for Marfan syndrome?
Tall stature
Aortic root dilation
Ectopia lenitis (lens displacement)
What investigation should be performed?
ECHO
When should a genetic test be performed in a suspected genetic condition?
When a positive result would change the diagnosis
What 2 drug types should be given for management of Marfan syndrome?
Beta blockers
Angiotensin II receptor blockers (ARBs)
If the sinus of valsava exceeds normal growth in Marfan syndrome what procedure should be performed?
Aortic surgery
What syndrome is associated with a long QT?
Romano-Ward syndrome
What are 2 indications of Romano-Ward syndrome?
Syncope
ECG shows prolonged QT interval
