congenital

Question 1

What is the most common cause of early cyanotic heart disease?

Answer 1

Tetralogy of Fallot

Question 2

Do left-to-right shunts cause early or late cyanosis?

Answer 2

Late, as cyanosis does not occur until increased pulmonary pressure becomes significant (“blue kids”) (Left-to-Right shunts=Later cyanosis)

Question 3

A newborn has a right-to-left cardiac shunt. Do you expect it to cause cyanosis early or late in life?

Answer 3

Early=blood bypasses the lungs and is not oxygenated (blue babies), usually requires urgent surgical correction and/or maintenance of a PDA

Question 4

Do right-to-left shunts cause early or late cyanosis?

Answer 4

Early, as deoxygenated blood from the right heart enters the left heart/systemic circulation (Right-to-Left shunts=early cyanosis)

Question 5

The 5 Ts of right-to-left (cyanotic) shunts in congenital heart disease comprise which diseases?

Answer 5

Tetralogy of Fallot,Transposition of great vessels,Truncus arteriosus.Tricuspid atresia,Total anomalous pulmonary venous return (TAPVR)

Question 6

• A 5-year-old boy is newly diagnosed with a cyanotic heart defect. What are the three possible causes, from most to least likely?

Answer 6

Ventricular septal defect, atrial septal defect, and patent ductus arteriosus

Question 7

You deliver a baby whose skin remains bluish even hours after delivery. You suspect a persistent truncus arteriosus. Define this disorder.

Answer 7

Lack of aorticopulmonary septum causes failure of truncus arteriosus to divide into pulmonary trunk and aorta, & most have accompanying VSD

Question 8

What are the heart sounds associated with atrial septal defects?

Answer 8

A loud S1, a wide fixed split S2

Question 9

A cyanotic newborn boy is diagnosed with tricuspid atresia. In order to survive, what other heart defects must this child have?

Answer 9

He must have both an atrial and a ventricular septal defect to survive (this baby has no tricuspid valve and a hypoplastic right ventricle)

Question 10

Which congenital heart diseases (if uncorrected) can eventually result in Eisenmenger syndrome? How do they cause it?

Answer 10

ASD/VSD/PDA;left-to-right shunts→↑pulmonary flow, triggering pulmonary vasculature changes/arterial hypertension→RVH→right-to-left shunt

Question 11

Cardiac MRI is performed on a patient with dyspnea, and total anomalous pulmonary venous return is diagnosed. What is this anomaly?

Answer 11

Seen with ASD and sometimes PDA (pulmonary veins drain into the right heart circulation [e.g., SVC or carotid sinus] instead of the left)

Question 12

Tetralogy of Fallot is caused by the displacement of which structure during embryogenesis? In which direction(s) is it displaced?

Answer 12

The infundibular septum; it is displaced anteriorly and superiorly

Question 13

A 60-y/o man has hypertension in the upper extremities and weak pulses in the lower extremities. Diagnosis? Other physical exam findings?

Answer 13

Coarctation of the aorta (aortic narrowing near ductus arteriosus insertion); notched ribs on X-ray due to collateral arteries eroding ribs

Question 14

A patient is diagnosed with Tetralogy of Fallot. The most important determinant for prognosis is the severity of the patient’s _____.

Answer 14

Pulmonary infundibular stenosis

Question 15

What congenital or genetic diseases are associated with coarctation of the aorta?

Answer 15

Bicuspid aortic valve, Turner syndrome, and other heart defects

Question 16

In tetralogy of Fallot, why does right-to-left shunting occur?

Answer 16

↑Pressure in right ventricle (pulmonary stenosis) causes blood to be shunted through the VSD, results in early cyanotic “tet spells” & RVH

Question 17

What is the direction of blood flow across the ductus arteriosus before and after birth? How is the patency of this shunt maintained?

Answer 17

Before = right to left; after = left to right (due to ↓lung resistance); maintained by prostaglandin E synthesis and low O2 tension

Question 18

A 2-year-old child has a face, lips, and tongue that turn blue whenever he cries. If he squats, he returns to normal. Why?

Answer 18

Squatting ↑systemic vascular resistance, ↓right-to-left shunting, and improves cyanosis (this child has tetralogy of Fallot)

Question 19

A newborn has a continuous machine-like murmur and is also diagnosed with transposition of the great vessels. What drug does she need?

Answer 19

Prostaglandin E is used to maintain a patent ductus arteriosus until transposition is corrected (PGE kEEps it open)

Question 20

Name the four congenital heart defects that comprise tetralogy of Fallot.

Answer 20

Pulmoary stenosis, Right ventricular hypertrophy (boot-shaped heart on chest x-ray), Overriding aorta, and VSD (PROVe)

Question 21

A patient with anterosuperior displacement of the infundibular septum has episodes of cyanosis. He needs what urgent treatment?

Answer 21

Early surgical correction (the patient has tetralogy of Fallot)

Question 22

A 2-year-old child is noted to have feet that are always blue. Her hands appear normal. What is this called? Why might she have it?

Answer 22

Differential cyanosis; may be a result of a patent ductus arteriosus, which can be closed using indomethacin

Question 23

What is the prognosis for infants with D-transposition of great vessels?

Answer 23

They die within the first few months of life if their condition is not surgically corrected by adding a shunt

Question 24

A patient has late cyanosis, clubbing, and polycythemia. He was also found to have an asymptomatic ventricular septal defect. Diagnosis
?

Answer 24

Eisenmenger syndrome, which results from uncorrected left-to-right shunts (age at onset varies)

Question 25

Whereas most ventricular septal defects self-resolve, larger lesions may lead to which harmful conditions?

Answer 25

Left ventricular overload, heart failure

Question 26

Describe the pathophysiology of D-transposition of great vessels.

Answer 26

Aorticopulmonary septum fails to spiral → exiting of aorta from RV/pulmonary trunk from LV → separation of systemic/pulmonary circulations

Question 27

Atrial septal defects usually arise from missing tissue in the ostium ___(primum/secundum); its symptoms range from none to heart failure.

Answer 27

Secundum (most common and usually isolated) (ostium primum defects are rarer, but usually accompanied by other cardiac anomalies)

Question 28

Genetic testing of a newborn shows a 22q11 deletion. What cardiac defect(s) might you find on further work-up?

Answer 28

Truncus arteriosus, tetralogy of Fallot

Question 29

A newborn boy has epicanthal folds, a flattened nasal bridge, and a single transverse palmar crease. What heart defects may he have?

Answer 29

Atrial, ventricular, and atrioventricular septal defects (endocardial cushion defects) (patient has Down syndrome)

Question 30

A newborn with a "blueberry muffin rash" is diagnosed with congenital rubella. What cardiac defect(s) might you find on further work-up?

Answer 30

Septal defects, patent ductus arteriosus, pulmonary artery stenosis

Question 31

A short 16-year-old girl has a webbed neck and primary amenorrhea. What heart defect(s) may she have?

Answer 31

Coarctation of aorta, bicuspid aortic valve (this girl has Turner syndrome)

Question 32

A patient is diagnosed with Marfan syndrome. You immediately perform an echocardiogram to look for which cardiovascular complication(s)?

Answer 32

Mitral valve prolapse, aortic regurgitation, thoracic aortic aneurysm and dissection

Question 33

A mother has poorly controlled diabetes. The offspring of this diabetic mother are at increased risk of what congenital cardiac defect(s)?

Answer 33

Transposition of great vessels

Question 34

An alcoholic woman drank heavily during her pregnancy. Which congenital heart defect(s) are associated with fetal alcohol syndrome?

Answer 34

Ventricular/atrial septal defects, patent ductus arteriosus, tetralogy of Fallot

Question 35

A patient who is currently being treated for manic depression is planning on pregnancy. Which drug should not be given? Why?

Answer 35

Lithium should not be given; it is associated with the Ebstein anomaly, a congenital cardiac defect

Question 36

A patient has "elfin" facial characteristics and exhibits an unusually cheerful demeanor. What congenital cardiac defect(s) may be present?

Answer 36

Supravalvular aortic stenosis (this is Williams syndrome)