Term
| What is the incidence of congenital heart disease? |
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Definition
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Term
| When during gestation does cardiac development occur? |
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Definition
3-8 weeks
by day 20: beating tubes, loops to right
by day 28: heart chambers |
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Term
| What are the two heart fields involved in cardiac development? |
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Definition
1) TBX5 and Hand1 (left ventricle)
2) Hand 2 and fibroblast growth factor 10 (outflow tracts, atria, right ventricle) |
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Term
| What is the role of neural crest cells in cardiac development? |
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Definition
| septation of outflow tract and the aortic arch |
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Term
| What is the role of the extracellular matrix in cardiac development? |
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Definition
| endocardial cushions, valve development |
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Term
| By what gestational age is there a 4 chambered heart? |
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Definition
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Term
| DiGeorge Syndrome is due to a problem in a gene encoding for what? |
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Definition
| TBX1 transcription factor |
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Term
| What is the most common genetic cause of congenital heart disease? |
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Definition
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Term
| Which chromosomal abnormalities cause heart defects? |
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Definition
| trisomy 21,18, 13 and monosomy X |
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Term
| What percent of Down's patients have heart defects and what is the most common defect for them to have? |
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Definition
| 40%, endocardial cushion defect |
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Term
| What are environmental factors known to cause heart disease? |
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Definition
| rubella, diabetes, drugs, and nutritional (folate protects against) |
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Term
| Which atria has blunt margins on the auricle? |
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Definition
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Term
| Describe the features unique to the right ventricle. |
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Definition
muscular infundibulum separating the inlet from outlet valve
coarsely trabecular septal wall |
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Term
| Describe the features unique to the left ventricle. |
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Definition
fibrous continuity between inlet and outlet valve
smooth septal wall |
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Term
| What characterizes right to left shunts? |
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Definition
| hypoxemia and cyanosis, admixture of oxygen depleted venous blood with oxygenated blood, paradoxical emboli, brain infarction and abscess, erythrocytosis and polycythemia, clubbing of digit tips |
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Term
| What characterizes left to right shunts? |
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Definition
| increased pulmonary blood flow with no cyanosis initially, RVH, pulmonary HTN, vascular changes increase pressure required for pulmonary perfusion, irreversible pulmonary changes (early intervention can prevent) |
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Term
| What is Eisenmenger syndrome? |
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Definition
| in left to right shunts, when pulmonary pressure becomes greater than systemic blood flow you reverse the shunt and get cyanosis |
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Term
| T/F Atrial septal defect is usually asymptomatic until adulthood. |
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Definition
| true even though pulmonary blood flow is 2-4 x normal |
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Term
| What are the different types of ASD? |
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Definition
90% secundum (deficient or fenestrated fossa ovale)
5% primum (endocardial cushion defect, associated with VSD)
5% sinus venosus (pulmonary veins drain) |
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Term
| In what percent of the population does the foramen ovale close permanently? What happens to the people in whom it doesn't close permanently/ |
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Definition
| 80% closes permanently. In others it can create a shunt when pressure increases on the right side (pulmonary HTN, coughing, sneezing, valsalva) |
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Term
| Paradoxical embolization occurs in patients with which congenital heart defect? |
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Definition
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Term
| What is the most common form of congenital cardiac anomaly? |
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Definition
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Term
| What percent of VSDs are isolated defects? |
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Definition
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Term
| What are the different types of VSDs? |
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Definition
90% membraneous septum (below aortic valve)
infundibular (below pulmonary valve)
muscular septum (50% may close spontaneously) |
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Term
| What are the symptosm and signs on physical exam of a patent ductus arteriosis? |
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Definition
usually asymptomatic unless large and untreated and may actually be beneficial if associated with other abnormalities (aortic or pulmonary valvular atresia)
harsh machinery-like murmur |
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Term
| What percent of PDAs are isolated? |
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Definition
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Term
| Atrioventricular septal defects can be due to... |
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Definition
| endocardial cushion defect. Complete or incomplete atrioventricular canal defect, incomplete closure of AV septum, malformation of mitral and triscuspid valves |
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Term
| What is a partial A/V septal defect? |
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Definition
| primum ASD with clefting of mitral valve |
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Term
| What is a complete atrioventricular septal defect? |
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Definition
| primum ASD with large VSD where the atrioventricular valve has not separated into the tricuspid and mitral valves |
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Term
| What is the most common right to left shunt? |
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Definition
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Term
| What is the tetralogy of fallot? |
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Definition
| VSD, subpulmonic stenosis, overriding aorta, right ventricular hypertrophy |
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Term
| What kind of shunt results from anterosuperior displacement of the infundibular septum? |
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Definition
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Term
| What does a heart with ToF look like on CXR? |
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Definition
| heart is enlarged and boot shaped with apical/right ventricular hypertrophy |
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Term
| In a large VSD with ToF the superior border is created by the ______. |
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Definition
| aorta, causes direct flow from both chambers into systemic circulation |
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Term
| The pulmonic stenosis of ToF is caused by hypertrophy of the ______. |
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Definition
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Term
| Patients with pulmonary atresia are dependent upon a ____________ for pulmonary blood flow. |
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Definition
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Term
| What percent of cases of ToF have a right aortic arch? |
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Definition
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Term
| Besides the classic 4 parts of ToF, what are some other malformations commonly associated with ToF? |
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Definition
| right aortic artch, aortic valve insufficiency, ASD |
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Term
| What determines the symptoms of different ToF patients? |
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Definition
| the extent of infundibular stenosis |
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Term
| What are the symptoms of ToF with mild stenosis? |
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Definition
| mimics VSD left to right (pts are pink) |
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Term
| Why does ToF get more severe as you age? |
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Definition
| pulmonic orifice remains stenosed and can not keep up with the individuals growth |
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Term
| Why do pts with ToF find it helpful to squat? |
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Definition
| squatting increases systemic resistance and will force more blood flow through the lungs |
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Term
| What is transposition of the great arteries? |
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Definition
| aorta rises from right ventricle anterior and to the right of the pulmonary artery while pulmonary artery arises from the left ventricle. |
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Term
| Transposition of the great vessels is incompatible with life unless... |
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Definition
| there is a shunt (35% with VSD stable, 65% with patent foramen ovale or ductus) |
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Term
| What is the prognosis of a pt with transposition of the great vessels without surgery? |
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Definition
| die within 1st few years of life |
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Term
| T/F patients with transposition of the great vessels have right ventricular hypertrophy. |
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Definition
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Term
| How do you surgically correct transposition of the great vessels? |
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Definition
| create a new shunt with balloon septostomy |
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Term
| What is a truncus arteriosis? |
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Definition
| failure of the truncus to separate into aorta and pulmonary arteries, single artery receives blood from both ventricles then distributes systemic pulmonary and coronary blood (VSDs) |
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Term
| What are the symptoms/signs of truncus arteriosus? |
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Definition
| cyanosis and pulmonary HTN |
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Term
| What results from tricuspid atresia? |
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Definition
| hypoplastic right ventricle, main pulmonary artery may be hypoplastic, blood flow through lungs is dependnet on ductus arteriosis and circulation maintained by ASD or PFO. If VSD, you will still get some blood flow through pulmonary artery |
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Term
| What is total anomalous pulmonary venous connection? |
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Definition
| pulmonary drainage into systemic venous return or coronary sinus, accompanied by PFO or ASD. Has right sided hypertrophy and dilatation and left atrium is hypoplastic |
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Term
| Coarctation of the aorta is seen in what chromosomal abnormalities? |
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Definition
| males with 2x or turners (XO) |
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Term
| What is infantile coarctation of the aorta? |
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Definition
| tubular hypoplasia of aorta proximal to ductus |
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Term
| What is adult coarctation of the aorta? |
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Definition
| ridge opposite where the ductus was, distal to arch vessels |
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Term
| What other anomalies are associated with coarctation of the aorta? |
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Definition
| bicuspid aortic valve in 50% as well as aortic stenosis, ASD, VSD, mitral regurgitation, and berry aneurysm of the circle of willis |
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Term
| Coarctation of the aorta with a PDA causes what symptoms? |
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Definition
| cyanosis in lower half of body |
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Term
| Coarctation of the aorta without a ductus leads to what symptoms? |
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Definition
| hypertension in upper half of body, weak pulses and hypotension in lower half, claudication and coldness, collateral circulation via intracostal arteries, (notching) |
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Term
| Can you hear coarctation of the aorta on auscultation? |
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Definition
| yes, it presents as a murmur throughout systole with possible thrill |
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Term
| T/F Coarctation of the aorta leads to left ventricular hypertrophy. |
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Definition
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Term
| Pulmonary stenosis and atresia can be seen in what congenital cardiac abnormalities? |
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Definition
| ToF, transposition of the great vessels, post-stenotic pumonary artery dilation (not ToF), atresia with hypoplastic right heart (ASD, PDA) |
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Term
| Aortic stenosis and atresia are associated with what severe syndrome? |
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Definition
| hypoplastic left heart syndrome |
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Term
| What valvular abnormality is associated with endocardial fibroelastosis? |
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Definition
| aortic stenosis and atresia |
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Term
| Aortic atresia is fatal unless... |
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Definition
| the ductus arteriosus is open to allow coronary artery circulation |
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Term
| What does aortic stenosis and atresia sound like on auscultation? |
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Definition
| prominenet systolic murmur |
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Term
| What is Williams Beuren syndrome? |
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Definition
| ascending aortic wall thickened, multiorgan, elastin defect, chromosome 7, hypercalcemia, cognition defects, facial dysmorphism |
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Term
| What is supravalvular stenosis associated with? |
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Definition
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Term
| Mild aortic stenosis is treated with... |
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Definition
| prophylactic antibiotics (endocarditis) avoidance of strenuous exercise (sudden cardiac death) |
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Term
| What are the left to right shunts? |
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Definition
| ASDs (PFO), VSDs, PDA, A/V septal defect, |
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Term
| What are the right to left shunts? |
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Definition
| ToF, anterosuperior displacement of the infundibular septum, Transposition of the great vessels, truncus arteriosis, tricuspid atresia, total anomalous pulmonary venous connection |
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Term
| What are the obstructive congenital cardiac abnormalities? |
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Definition
| coarctation of the aorta, pulmonary stenosis and atresia, aortic stenosis and atresia, |
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