Syndromes/ chemo/pregnancy Flashcards
What syndrome is Trisomy 21?
Down Syndrome
Extra genetic material on chromosome 21
What cardiac findings are associated with Trisomy 21 (down syndrome)
- Atriventricular septal defect (AVSD)
- VSD
- ASD (primum)
Trisomy 21 is associated with cardiac findings ___% of the time
40-50%
High occurance
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 Syndromes 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 afftects 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 22q11.2 is what syndrome?
DiGorge 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
Dextrtocardia
What does Ehlers-Danlos and Marfans syndrome have in common
both are connective tissue disorders
What cardiac findings are associated marfans syndrome
connective tissue dissorder
MVP
Aortic dilation
Aortic dissection
What cardiac findings are associated with Ellis-van Creveld Syndrome?
ASD
Common atrium
Ellis-van Creveld Syndrome is highly associated with what heritage?
Amish hertiage
dwarfism
What cardiac findings are associated with Friedreich ataxia?
Hypertropic cardiomyopathy
form of muscular dystrophy
What cardiac findings are associated with Goldenhar syndrome?
(Oculoauicular dysplasia)
VSD
PDA
TOF
CoA
facial deformities
What cardiac findings are associated with Holt-Oram Syndrome
VSD
ASD
Conduction disorders
Acronym is HO,
Silly way to remember is electrophysiologist are “Ho”es , key take away is the conduction disorder
What cardiac findings are associated with Ivemark syndrome
Asplenia
atrial isomerism
TAPVR
d-TGA
DORV
What cardiac findings are associated with Klippel-Feil syndrome?
VSD
What cardiac findings are associated with LEOPARD syndrome
Hypertrophic cardiomyopathy
condution disorders
What cardiac findings are associated with Neurofibromatosis
PS
VSD
COA
What cardiac findings are associated with Noonan Syndrome?
PS
Hypertropic cardiomyopathy
CoA
unusual facies, short in stature
What characteristics are associated with Noonan syndrome?
- Pigeon chest (pectus carinatum)
- short stature
- webbed neck
- distictive facial features
What cardiac findings are associated with Pentalogy of Cantrell?
TOF
ectopia cordis
abdominal wall deffect
What characteristics are associated with scimitar syndrome
How does it get its name?
Anomalous pulmonary veins to IVC
(infracardiac)
-where one or both the RPV drains to the IVC
Name comes from apperance on xray resembling a Turkish sword called scimitar
Shones complex
multiple levels of left heart obstruction
Tuberous sclerosis is highly associated with what?
Rhabdomyomas
What cardiac findings are associated Williams syndrome?
AS and supravalvular AS
supravalvular PS
cocktail personality, overly friendly
What cardiac findings are associated Pompe’s
hypertropic cardiomyopathy
glycogen strorage disorder
What cardiac findings are associated wolff parkinson white (WPW) syndrome
MVP
Ebstein’s malformation
electrical abnormality by the presence of an accessory conduction pathway from the atria to the ventricles
what are maternal risk factors associated with
1. insulin dependant
1. alcohol and drug abuse
- VSD, AV Canal, truncus arteriosus
- VSD, ASD, TOF
Diabetic mothers are infant are at risk of
HCM ( resolves)
TOF
DORV
will resolve
Infants who pregnant mother is taking Lithium medications are at risk for?
Ebsteins
Fetus who’s mother has rubella during preganancy is at rish for what congenital heart deffect?
PS
PPS
PDA
What syndromes are associated with hypertrophic CM
LEOPARD
Noonan
Mitochandrial
What syndromes are associated with dilated CM
Duchenne muscular dystrophy
what is Sickel cell diesease
Red blood cells are deformed and only survive 10-20 days verse 90-120days of a normal red blood cell. As a result it causes anemia and low O2 saturation blood. Heart works harder to try and produce more oxygen to the body
Can cause LVE
Arrythmogenic RV Cardiomyopathy, dysplasia
genetic disorder that effects the RV, fatty replacement of RV myocardium
How to determine heart transplant rejection?
-Gold standard is heart biopsy
-TDI of lateral MV annulas
- other diastolic parameters (IVRT, MVP1/2t, E/A ratio)
What causes cardiac toxicity?
- Chemo
- radiation to chest
- Iron overload (transfusions)
- Lead
Chemo Drugs
Anthracyclines
-doxorubicin
-Adriamycin
If a child is in a car accident and takes trauma to the chest which chamber is most likely to be effected?
RV closest to the chest wall
