genetics in cardiology Flashcards
what are 4 congenital cardiovascular defects most common in downs syndrome?
atrioventricular septal defect
ventricular septal defect
atrial septal defect
patent ductus arteriosus
what chromosome is affected in DiGeorge syndrome?
22
at what specific point on the chromosome 22 is there deletions in DiGeorge syndrome?
q11.2
what are the symptoms that arise with Digeorge’s syndrome?
CATCH-22: cardiac abnormalities thymic aplasia cleft palate hypothyroidism
what cardiac abnormalities are associated with DiGeorge syndrome??
Interruption of aortic arch
tetralogy of fallot
ventricular septal defects
what are the four heart abnormalities involved with the tetralogy of Fallot?
- overriding aorta
- right ventricular hypertrophy
- pulmonary valve stenosis
- ventricular septal defect
what type of protein is TBX-1?
a transcription factor
what is the phenotype of hypertrophic cardiomyopathy?
- increased muscle thickness (on the ventricular septum and on the left ventricular wall)
- disorganised myocytes
- fibrosis
what is causing the long QT interval?
delay in repolarisation
a mutation in which ion channel is causing the delay in depolarisation seen with the long QT interval?
potassium
what is the name for different mutations of the same gene that cause the same disease?
allelic heterogenity
what type of mutation results in the sodium channel staying open for much longer?
a gain of function mutation
what two different chanel mutations can cause a long QT interval?
gain of function sodium channel mutation
loss of function potassium channel mutation
what is penetrance?
the percentage of individuals affected by a genetic disorder MOLECULARLY that are expressing the phenotype
what is the definition of familial hypercholesterolemia?
genetically inherited high concentration of serum LDL cholesterol (total cholesterol higher than 7.5mM)
