Congenital And Genetic Cardiac Diseases Flashcards
What are some signs of potential congenital cardiovascular diseases in utero?
Nuchal folds
Cystic hygroma
What cardiovascular congenital disease is more likely to occur in children with Down syndrome?
ventricular septal defect
What cardiovascular congenital abnormalities are children with turners syndrome more likely to have?
Aortic coarctation
What is a common cardiac congenital abnormality in people with William’s syndrome?
Supravalvar aortic stenosis
What cardiac abnormality do children with Noonan syndrome often have?
Pulmonary stenosis
what are some of the congenital diseases which result in neck webbing and cardiac abnormalities?
turner's syndrome noonan's syndrome cardio-facio-cutaneous syndrome leopard syndrome costello syndrome
what is a common pathway in which gene disruption causes a variety of congenital diseases?
MAPK pathway
what are characteristics of 22q11 deletion syndrome?
CATCH 22 cardiac abnormality abnormal facies thymic hypoplasia cleft palate hypoparathyroidism 22q11 deletion
what are different versions of severity of 22q11 deletion syndrome?
DiGeorge's syndrome (more severe) Shprinzen syndrome (less severe)
what are some complications in later life in people with 22q11 deletion syndrome?
they can develop psychiatric disorders later in life
what is Marfan’s syndrome?
genetic disease caused by Fibrillin 1 mutation
what type of disease is Marfan’s syndrome?
connective tissue disease
what is used to diagnose Marfan’s syndrome?
GHENT criteria
what are the main criteria to diagnose Marfan’s syndrome?
eye problems (myopia, lens subluxation)
cardiac abnormality (dilated aortic root)
skeletal (>7 out of 14 factors)
family history (direct relative affected)
genetics (Fibrillin 1 mutation)
why does Marfan’s cause connective tissue destruction
because it is secreted along with another enzyme, which is in excess when Fibrillin is abnormal, and destroys connective tissue
what are the main investigations for Marfan’s syndrome?
echocardiogram
MRI and/or pelvic Xray
genetic testing
family testing
how is cardiac disease in Marfan’s syndrome managed?
beta blockers and ACEis to keep aortic dilatation to a minimum
prophylactic surgery to avoid aneurysms
what are some genetic diseases which can result in sudden cardiac death, and what structures do they affect?
Long QT syndrome and Brugada syndrome - ion channels
Hypertrophic cardiomyopathy - sarcomere
ARVC - cell junctions
dilated cardiomyopathy - cytoskeleton
how would a family with a genetic condition be screened?
cascade screening - systematically tracing all close relatives
what are some of the causes for congenital heart defects?
fetal alcohol syndrome
anticonvulsants
diabetes
rubella
what are characteristic signs of Turner’s syndrome?
aortic coarctation gonadal dysgenesis neck webbing short stature puffy hands
what is a typical symptom of fetal alcohol syndrome?
smooth philtrum
what are common facial features of children with 22q11 deletion syndrome?
small eyes
bulbous nose
crumpled looking ears
what is Jervell and Lange-Nielsen syndrome?
a type of long QT syndrome which includes congenital deafness
