Congenital Heart Disease Flashcards
What genetic syndromes may predispose a fetus to congenital heart defects (CHD)?
Trisomy 21, Turner Syndrome, DiGeorge Syndrome
What role does the Csx/NKX2.5 gene play in heart defects?
If Csx/NKX2.5 is deleted, cardiac myocytes form, but their morphogenesis is arrested and growth of the heart tube is retarded leading to defects such as
- atrial/ventricular septal defects
- tetralogy of Fallot
- double-outlet right ventricle
- tricuspid valve abnormalities
- hypoplastic left heart syndrome
How are CHD classified?
- Acyanotic group
- Cyanose Tardive group
- Cyanotic group
Describe the acyanotic group of CHDs and give examples
Does not have abnormal communication betwixt systemic and pulonary circuits
- Coarctation of aorta
- Right-side aortic arch
- Ebstein malformation
Describe the cyanose tardive group of CHDs and give examples
Initial L to R shunt with late reversal of flow from R to L
- Patent Ductus Arteriosus
- Patent Foramen Ovale
- Ventricular Septal Defect
What is the name of the mechanism where the shunt is initiall L to R and then switches R to L?
Eisenmenger Complex
Describe the cyanotic group of CHDs and give examples
Permanent R to L shunt
- Tetralogy of Fallot
- Truncus Arteriosus
- Tricuspid Atresia
- Complete Transposition of the Great Vessels
What is the most common ventricular septal defect?
Partial/complete formation of the membranous portion of the septum
What is the name of the syndrome in which a patient has a double outlet right ventricle and a subpulmonic ventricular septal defect?
Taussig-Bing Syndrome
A patient with a small ventricular septal defect has resultant pulmonary artery thickening and increased pulmonary vascular resistance. What is the pathology that will likely occur?
The direction of the shunt is reversed from L to R to R to L causing late onset cyanosis (tardive cyanosis) RVH and RHF (Eisenmenger complex)
What percentage of adults have patent foramina ovale? What are the Syx?
25%; Generally asymptomatic
What type of emboli can occur in those with a patent foramen ovale?
Paradoxical embolus
What type accounts for 90% of Atrial Septal Defects?
Ostium Secundum Type
What is an ostium secundum?
A foramen in the septum primum
What is the name of the syndrome in which there is a combination of mitral stenosis and ostium secundum septal defect?
Lutembacher Syndrome
What flow anomaly occurs in sinus venosus defects?
Drainage of right pulmonary veins into the right atrium/superior vena cava
What atrioventricular canal defect is encountered in patients with Down Syndrome?
Persistent Common Atrioventricular Canal
A patient presents with enlarged ostium primum atrial septal defect, inlet ventricular septal defect, and clefts in the anterior leaflet of the mitral valve and septal leaflet of the tricuspid valve. What is the Dx?
Complete atrioventricular canal
What is an incomplete atrioventricular canal?
Ostium primum atrial septal defect is adjacent to the atrioventricular valves
What symptoms are seen in an adult with an atrial septal defect?
Cyanosis and clubbing of the fingers