Syndromes/ chemo/pregnancy Flashcards
(52 cards)
What syndrome is Trisomy 21?
Down Syndrome
Extra genetic material on chromosome 21
What cardiac findings are associated with Trisomy 21 (down syndrome)
- Atrioventricular septal defect (AVSD)
- VSD
- ASD (primum)
Trisomy 21 is associated with cardiac findings ___% of the time
40-50%
High occurrence
What syndrome is Trisomy 18?
Edwards Syndrome
What cardiac findings are associated with Trisomy 18 (Edwards Syndrome)
- PS
- ASD
- PDA
has highest inncident of cardiac defects @ 90%
Which syndrome has the highest incidence of cardiac defects
Edwards Syndrome at 90% of the time
Noonan at 80%
Down syndrome at 50%
Edward syndrome is a chromosomal disorder caused by
all or part of an extra chromosome 18
Survival is low, 5-10% survive to 1 year
What syndrome is Trisomy 13?
Patau Syndrome
What cardiac findings are associated with Trisomy 13 (Patau syndrome)
- VSD
- PDA
- Dextrocardia
What cardiac findings are associated with Cri du Chat?
- PDA
- VSD
- ASD (secundum)
Also associated:
* AV canal
* Tetralogy of Fallot
Cri du Chat is a partial deletion on chromosome __
Cri du chat is a French phrase meaning
chromosome 5
-“Cry of the cat”
Infants with this condition often have a high-pitched cry that sounds like that of a cat. hence the name
What cardiac findings are associated with Turners syndrome?
CoA
Bicuspid AV / AS
ASD
PAPVR (Highest incidence)
What are characteristics of Turner Syndrome?
only affects females
short stature
webbed neck
when female is missing all or part of the X chromosome
Caylor syndrome affects what chromosome?
Microdeletion of chromosome 22q11
Same as DiGeorge Syndrome, both are essentially the same condition
They are both caused by a deletion on chromosome 22 and share similar symptoms, but historically were considered separate diagnoses due to variations in presentation, with Cayler syndrome often characterized by a distinctive facial asymmetry, particularly noticeable when crying
What cardiac findings are associated with Caylor syndrome?
ASD
VSD
TOF
What cardiac findings are associated with DiGeorge Syndrome?
Truncus arteriosus
TOF
IAA (type B)
VSD
PA with VSD
Micro deletion of chromosome 22q11 is what syndrome?
DiGeorge Syndrome
75% who have a 22q11 deletion will present with CHD
What three syndromes involve the deletion of chromosome 22q11?
DiGeorge syndrome
Caylor Syndrome
Velocardiofacial syndrome
Velocardiofacial syndrome has the same CHD as DiGeorge with the addition of
- d-TGA
- Right AO arch
In common they have:
TOF
Truncus arteriosus
VSD
What cardiac findings are associated with Ehlers-Danlos Syndrome?
Aortic aneurysm
IAA
CoA
Dextrocardia
What does Ehlers-Danlos and Marfan’s syndrome have in common
both are connective tissue disorders
What cardiac findings are associated Marfan’s syndrome
connective tissue disorder
MVP
Aortic dilation
Aortic dissection
What cardiac findings are associated with Ellis-van Creveld Syndrome?
ASD
Common atrium
Dwarfism
Ellis-van Creveld Syndrome is highly associated with what heritage?
Amish heritage
dwarfism
