Systems 1A - both cardio and resp Flashcards
Name the 6 characteristics associated with Noonan Syndrome.
pulmonary stenosis, cryptorchidism, neck webbing, PTPN11 gene deletion on chromosome 12, characteristic face, short stature
Name the 3 genetic ‘Noonan-like’ syndromes.
Cranio-facial cutaneous syndrome (CFC), leopard syndrome and Costello Syndrome
what are the symptoms of Leopard syndrome
Leopard syndrome is a Noonan like syndrome so will present with cryptorchidism, PTPN11 deletion, neck webbing but it will also present with pulmonary stenosis, multiple lentigenes and deafness.
What are the symptoms of costello syndrome
malignancy, cardiomyopathy, warts and excess skin folds.
what are the symptoms of CFC syndrome
Noonan like with ectodermal issues and developmental delay
all of the noonan syndromes (Costello, leopard and CFC) are all affected by genetic abnormalities in the same pathway. what is the name of this pathway?
the Mitogen activated protein kinase (MAPK) pathway
what condition cradiac genetic syndrome is thymic hypoplasia found?
22q11 deletion.
name the symptoms of 22q11 deletion syndrome
CATCH22 cardiac abnormalities abnormal face thymic hypoplasia cleft palate hypoparathyroidism 22q11 deletion
what are the psychiatric disorders which accompany 22q11 deletion?
schizophrenia
depression
bipolar affective disorder
what two syndromes encompass 22q11 deletion syndrome?
DiGeorge and Shprintzen
What are the symptoms in DiGeorge syndrome?
cardiac outflow tract malformation
thymic hypoplasia
hypoparathyroidism
(sporadic disease)
how many clinical signs of 22q11 deletion are needed before a test should be carried out?
2 or features should be present before a test should be done.
describe all of the characteristics of williams syndrome
characteristic face 5 finger clinodactyly hypercalcaemia supravalvular aortic stenosis LIN kinase deletion elastin deletion on chromosome 7
what cardiac genetic syndrome will result in thymic hypoplasia and hypoparathyroidism with a cleft palate?
22q11 deletion
what genetic syndrome will result in coarctation of the aorta, short stature, neck webbing, gonadal dynsfunction and puffy hands?
turner’s syndrome
what chromosomal anomaly leads to Down’s syndrome and what are the 3 ways it can occur
trisomy of chromosome 21 and this can occur by maternal non-dysjunction, mosaic or a translocation.
what are the 3 main symptoms of down’s syndrome
duodenal atresia, atrio-ventricular septal defects
Name the genetic defects that result in cystic hygroma formation
Turner’s syndrome
Trisomy 21 (down’s syndrome)
Noonan syndrome
how many chromosomes are found in an individual with turner’s syndrome?
45, X
low copy repeat genes are an influence in 22q11 deletion syndrome. True or False?
true - the effects of deletions and translocations in 22q11 deletion syndrome are amplified due to LCR genes
name 3 anticonvulsant drugs which may result in teratogenic effects on a fetus
valproate
phenytoin
carbamazepine
what are the effects of anticonvulsants on a fetus?
characteristic face
developmental delay
malformation patterns
Name 2 familial cardiomyopathy conditions
hypertrophic cardiomyopathy (r403q) dilated cardiomyopathy (
Marfans syndrome is a cardiovascular connective tissue disease true or false?
true. other cardiovascular connective tissue diseases include loeys-dietz and ehlers danlos
what is pectus carinatum
protrusion of the anterior chest way
what might the diagnosis be in a 13 year old child with a tall stature, lens subluxation, mild aortic dilatation and arachnodactyly be?
Marfan’s syndrome
what genetic cardiac syndrome with the deletion of the fibrillin 1 gene and 15q21 chromosome will present with aortic regurgitation
Marfans syndrome
What criteria is used to diagnose Marfans syndrome?
2010 Ghent criteria
how many system findings must be positive for a positive diagnosis of Marfans syndrome?
2 - these include CVS, eyes (ectopia lentis), systemic score, family Hx and fibrillin 1 mutation
what are the systemic score criteria systems in the diagnosis of marfans syndrome?
skeletal system dural ectasia skin respiratory mitral valve prolapse myopia
what are the 5 main Ghent criteria in Marfans Diagnosis?
Cardiovascular Eyes family Hx fibrillin 1 gene systemic score over 7
name 4 positive skeletal features in the systemic score of the ghent criteria (Marfans Syndrome)
- arm span greater than the height of individual
- thumb height greater than the width of the wrist
- scoliosis/kyphoscoliosis
- pectus protrusio
- reduced elbow extension
