Genetics and Cardiovascular Disease Flashcards
What syndromes that you know of are due to microdeletions
22q11 deletion syndrome
Williams syndrome
what syndromes that you know of are due to single gene deletions
Noonan syndrome
Marfan syndrome
Down syndrome is a trisomy, what chromosome does it effect
trisomy of chromosome 21
what is the most common cause leading to trisomy in Down syndrome
maternal non-disjunction
what is a common heart defect in people who have Down syndrome
atrio-ventricular septal defects
duodenal atresia is a development defect commonly seen in what genetic condition
Down syndrome
what is Turner syndrome
only effects females, where the female is partially or completely missing a X chromosome
what is the cardiovascular defect that can happen in Turner syndrome
contraction of the aorta
What may a female with Turner syndrome look like
short stature
neck webbing
puffy hands
early loss of ovarian function
What may an individual with Noonan syndrome look like
neck webbing short stature wide forehead droopy eyelids absence of 1 testicle in males
what is the cardiac defect that can be present in Noonan syndrome
pulmonary stenosis
what does CATCH 22 stand for in relation to 22q11 deletion syndrome
C ardiac malformation A bnormal facies T hymic hypoplasia C left palate H ypoparathyroidism 22 q11 deletion
apart from the CATCH22 signs what other problems may a person with 22q11 deletion present with
renal problems
psychiatric
what percent of 22q11 syndrome cases are familial
only 25%
What is the typical features of a patient with Williams syndrome
characteristic face with low nasal bridge
cocktail party manner
5th finger clinodactyly
hypercalcemia
what cardiovascular defects may a person with Williams syndrome present with
aortic stenosis (supravalvar)
what is the genetic cause of Williams syndrome
deletion of elastin on chromosome 7
what are known teratogens
alcohol
antiepileptic drugs
rubella
maternal diabetes mellitus
what are 3 antiepiletic drugs that can cause Fetal Anticonvulsant Syndrome
valproate
phenytoin
carbamazepine
what are the features a person with Fetal Antiepileptic Syndrome may have
characteristic face
malformation patterns
development delay
what are 3 connective tissue diseases that commonly effect the heart
Marfan syndrome
Loeys-Dietz
Ehlers Danlos
what is the chance that a patient with Marfans has inherited it
75%
Marfans syndrome can be describe as Autosomal (what)
autosomal dominant
the Ghent syndrome can be used to diagnose what condition
Marfans
what does pectus mean
chest wall deformity- looks like the chest wall has sunken in
hypermobile joint is a feature of what condition
Marfans
In suspected Marfans syndrome what patients would get an ECG
every case- mandatory
in suspected Marfans Syndrome when would you do an MRI and/or pelvic X-ray
where diagnosis would change if positive
the Fibrillin 1 gene is mutated in Marfans syndrome, can this be detected in many patients
yes 70-90%
How would you manage Marfans
annual clinical review echo regularly B blockers ARBs aortic surgery if needed monitor aortic root in pregnancy
