Congenital Flashcards
(122 cards)
What is a PFO?
- Patent foramen ovale
- one of two fetal cardiac shunts, allowing blood to bypass the fetal lungs, which cannot work until they are exposed to air
- occurs when the foramen ovale fails to close after birth
- later forms the “fossa ovalis”
What are the notable 22q11.2 deletion syndromes?
Multiple phenotypes
- Tetralogy of Fallot
- Pulmonary Stenosis
- Interrupted arch
- VSD
- Double outlet right ventricle
- D-transposition of the great arteries
- DiGeorge syndrome: CATCH-22
Explain the features of Digeorge Syndrome
CATCH-22
- Cardiac abnormality
- commonly - interrupted aortic arch, truncus arteriosus, tetralogy of Fallot
- Abnormal facies
- Thymic aplasia and immune deficiencies
- Cleft palate
- Hypocalcemia/hypoparathyroidism
Chromosomal abnormality leading to:
- Down syndrome
Trisomy 21
Chromosomal abnormality leading to:
- Turner Syndrome
absence or abnormality in one of X chromosomes
Chromosomal abnormality leading to:
- Williams Syndrome
Microdeletion on 7q and others
Supravalvular Stenosis
Mendelian gene/chromosomal mutation associated with:
- Marfan Syndrome
Fibrillin-1 mutation on chromosome 15q21
Mendelian gene/chromosomal mutation associated with:
- Loey-Dietz syndrome
TGF beta receptor disorder (TGFBR1 or TGFBR2)
Mendelian gene/chromosomal mutation associated with:
- Holt-Oram Syndrome
TBX5 gene mutation
What congenital defect has the highest risk of transmission to progeny?
- Bicuspid aortic valve and/or aorthopathy
- up to 30% transmission rate
What is the general rate of transmission to offspring, for most congenital heart defects?
2-4%
What is/are the most common congenital heart pathology:
- Down syndrome
- 60% have some congenital heart lesion
- AV septal defects (complete or partial)
- ASDs
- VSD’s
- Both ASD and VSD’s
- Cleft AV leaflets
What is/are the most common congenital heart pathology and features:
- Holt-Oram Syndrome
- Secundum ASD’s (occassionally others)
- Abnormal digits, usually thumbs; can be both upper limbs
What is/are the most common congenital heart pathology and features:
- Noonan Syndrome
- Dysplastic pulmonary valve, hypertrophic cardiomyopathy, ASD’s
- Short stature, Web neck, hypertelorism, low set ears, micrognathia, pectus excavatum, triangular facies,
What is/are the most common congenital heart pathology:
- Marfan Syndrome
- Aortic aneurysm
- MVP
- Aortic valve prolapse
- Pulmonary artery dilatation
Which echocardiographic scan plane is most optimal to define a secundum ASD?
- Subcostal 4-chamber view
- view which is optimally perpendicular to the atrial septum
- eliminates the greatest degree of potential drop out
What is the most common associated anatomic lesion found with a sinus venosus ASD?
Anomalous right pulmonary venous connection
- either a single RUPV or the RU and middle pulmonary veins insert anomalously to the SVC or the SVC-right atrial junction
- these can also be located inferiorly near the entrance of the IVC into the RA
- sinus venosus ASD’s are most commonly found in the superior portion of the atrial septum creating a “biatrial” insertion of the SVC
What is the most common associated anatomic lesion found with a inlet VSD’s?

AV septal defects

What is the most common associated anatomic lesion found with bicuspid aortic valve?
coarctation of the aorta
What is the most common associated congenital defect in a patient with Down Syndrome and an AV septal defect (AVSD)?
Tetralogy of Fallot
What is the most common anatomic finding in a complete AVSD?
LVOT is “sprung” anteriorly
- LV inflow is shortened and LVOT is elongated (“goose-neck deformity”) –> LV inlet / LV outlet ratio < 1
- Presence of a common AV valve –> Aortic Valve no longer wedged between AV valves and is pushed anteriorly (“sprung”)
What are the anatomic hallmarks of AVSD’s?
- Cleft in the anterior leaflet of the left AV valve
- Lateral rotation of the LV papillary muscles
- Attachments of the left and right AV valves at the same level at the cardiac crux
- LV inlet / LV outlet ratio < 1 (“goose-neck deformity)
What is the best echo view to delineate a subpulmonary (supracristal, doubly committed) VSD?
parasternl short axis view
- can also be demonstrated from subcostal and apical windows with appropriate angulation
What is the most characteristic acquired lesion resulting from a subpulmonary (supracristal, doubly committed) VSD?
Aortic Insufficiency
- occurs as a result of prolapse of the aortic cusp into the subpulmonary VSD































































