Cardio - Path (Part 1: Congenital Heart Disease)

Question 1

What is the hallmark of right-to-left shunts versus left-to-right shunts?

Answer 1

RIGHT-TO-LEFT SHUNTS: Early cyanosis (“blue babies”); LEFT-TO-RIGHT SHUNTS: Late cyanosis (“blue kids”)

Question 2

What are 5 prime examples of right-to-left shunts?

Answer 2

(1) Tetralogy of Fallot (2) Transposition of great vessels (3) Persistent truncus arteriosus (4) Tricuspid atresia (5) Total anomalous pulmonary venous return (TAPVR); Think: “5 T’s: Tetralogy, Transposition, Truncus, Tricuspid, TAPVR”

Question 3

What is the most common cause of early cyanosis?

Answer 3

Tetralogy of Fallot

Question 4

What is a persistent truncus arteriosus? What other defect usually accompanies it?

Answer 4

Failure of truncus arteriosus to divide into pulmonary trunk and aorta; Most patients have accompanying VSD

Question 5

What characterizes Tricuspid atresia? What is required for it to be viable?

Answer 5

Characterized by absence of tricuspid valve & hypoplastic RV; Requires both ASD and VSD for viability

Question 6

What is TAPVR?

Answer 6

Total anomalous pulmonary venous return (TAPVR) = pulmonary veins drain into right heart circulation (SVC, coronary sinus, etc.)

Question 7

With what is TAPVR associated? What is the basis of this association?

Answer 7

Associated with ASD and sometimes PDA to allow for right-to-left shunting to maintain CO

Question 8

What are prime examples of left-to-right shunts? Where applicable, list them in order of decreasing frequency.

Answer 8

VSD > ASD > PDA; Also Eisenmenger syndrome

Question 9

What is the most common congenital cardiac anomaly?

Answer 9

VSD

Question 10

What is an ASD? What are the heart sounds associated with it?

Answer 10

Defect in interatrial septum; Loud S1; wide, fixed S2

Question 11

What drug is used to close a PDA?

Answer 11

Indomethacin

Question 12

What is Eisenmenger’s syndrome? Include its etiology and progression.

Answer 12

Uncorrected VSD, ASD, or PDA causes compensatory pulmonary vascular hypertrophy, which results in progressive pulmonary hypertension. As pulmonary resistance increases, the shunt REVERSES from left-to-right TO RIGHT-TO-LaTE

Question 13

What are the signs/symptoms associated with Eisenmenger’s syndrome?

Answer 13

(1) Cyanosis (2) Clubbing (3) Polycythemia

Question 14

What is the primary cause of Tetralogy of Fallot? What are its 4 classic features?

Answer 14

Anterosuperior displacement of the infundibular septum. (1) Pulmonary infundibular stenosis (2) Right ventricular hypertrophy (3) Overriding aorta (3) VSD

Question 15

What is the most important determinant for prognosis of Tetralogy of Fallot?

Answer 15

Pulmonary infundibular stenosis

Question 16

To which other classic feature of Tetralogy of Fallot does overriding aorta relate, and how?

Answer 16

Overriding aorta overrides the VSD

Question 17

What are “tet spells”? What causes them?

Answer 17

Early cyanosis seen in Tetralogy of Fallot, caused by pulmonary stenosis forcing right-to-left flow across VSD

Question 18

How does the VSD in Tetralogy of Fallot differ from isolated VSDs?

Answer 18

Isolated VSDs usually flow left to right (acyanotic). In tetralogy, pulmonary stenosis forces right-to-left (cyanotic) flow & causes RVH (on x-ray, boot-shaped heart)

Question 19

What is seen on X-ray in Tetralogy of Fallot?

Answer 19

RVH –> boot-shaped heart

Question 20

What have older Tetralogy of Fallot patients historically learned to do, and why?

Answer 20

Older patients historically learned to squat to relieve cyanotic symptoms; Squatting reduced blood flow to legs, increased systemic vascular resistance (SVR), and thus decreased the cyanotic right-to-left shunt across the VSD. Improves cyanosis.

Question 21

What is the preferred treatment for Tetralogy of Fallot?

Answer 21

Early, primary surgical correction

Question 22

What defines D-transposition of the great vessels?

Answer 22

Aorta leaves RV (anterior) and pulmonary trunk leaves LV (posterior) –> separation of systemic and pulmonary circulations.

Question 23

What is important to know about the vitality of D-transposition of the great vessels?

Answer 23

Not compatible with life unless a shunt is present to allow adequate mixing of blood (e.g., VSD, PDA, or patent foramen ovale)

Question 24

What causes D-transposition of the great vessels?

Answer 24

Due to failure of aorticopulmonary septum to spiral

Question 25

What is the recommended intervention for D-transposition of the great vessels? What happens without this intervention?

Answer 25

Surgical correction; Without surgical correction, most infants die within first few months of life

Question 26

What are the different types of coarctation of the aorta? Name and define them.

Answer 26

(1) Infantile type: aortic narrowing proximal to insertion of ductus arteriosus (preductal) (2) Adult type: aortic narrowing distal to ligamentum arteriosum (postductal); Think: “Infantile = In close to the heart, aDult = Distal to Ductus”

Question 27

With what is the infantile type of coarctation of the aorta associated?

Answer 27

Associated with Turner syndrome

Question 28

With what 3 effects is the adult type of coarctation of the aorta associated?

Answer 28

Associated with notching of the ribs (due to collateral circulation), hypertension in upper extremities, & weak, delayed pulses in lower extremities (radiofemoral delay)

Question 29

What is the normal shunt for ductus arteriosus during fetal period? What happens to the shunt during neonatal period, and why? What effects does this have?

Answer 29

Right to left; Lung resistance decreases & shunt becomes left to right, with subsequent RVH &/or LVH and failure (abnormal)

Question 30

With what kind of heart sound is patent ductus arteriosus associated?

Answer 30

Associated with a continuous, “machine-like” murmur

Question 31

What maintains patency of ductus arteriosus?

Answer 31

PGE synthesis & low O2 tension

Question 32

What result can uncorrected PDA eventually have?

Answer 32

Late cyanosis in lower extremities (differential cyanosis)

Question 33

What closes PDA? What keeps PDA open? What is a good way to remember this?

Answer 33

Indomethacin; PGE; ENDomethacin ENDs patency of PDA & pgE kEEps it open

Question 34

In what situation might PGE be necessary to sustain life, and why?

Answer 34

E.g., Transposition of the great vessels; Keeps PDA open

Question 35

When is PDA normal? When does it close?

Answer 35

Normal in utero; Closes only after birth

Question 36

Explain the 2 key pathological states of PDA, including there etiologies and effects.

Answer 36

(1) In the neonatal period, lung resistance decreases and shunt becomes left-to-right. If untreated, shunt may lead to RVH, LVH, and rarely heart failure (2) Uncorrected PDA with chronic overload of pulmonary vasculature can eventually result in pulmonary hypertension and shunt reversal (Eisenmenger syndrome), manifesting as cyanosis and clubbing in lower extremities (differential cyanosis)

Question 37

With what congenital cardiac defects are 22q11 syndromes associated?

Answer 37

Truncus arteriosus, Tetralogy of Fallot

Question 38

With what congenital cardiac defects is Down syndrome associated?

Answer 38

ASD, VSD, AV septal defect (endocardial cushion defect)

Question 39

With what congenital cardiac defects is Congenital rubella associated?

Answer 39

Septal defects, PDA, pulmonary artery stenosis

Question 40

With what congenital cardiac defects is Turner syndrome associated?

Answer 40

Bicuspid aortic valve, Coarctation of the aorta (preductal)

Question 41

With what congenital cardiac defects is Marfan’s syndrome associated?

Answer 41

MVP, Thoracic aortic aneursym and dissection, Aortic regurgitation

Question 42

What congenital cardiac defect(s) would you be concerned about for the infant of a diabetic mother?

Answer 42

Transposition of great vessels

Question 43

What disorder(s) is/are associated with the following congenital cardiac defects: Truncus arteriosus, tetralogy of Fallot?

Answer 43

22q11 syndromes

Question 44

What disorder(s) is/are associated with the following congenital cardiac defects: ASD, VSD, AV septal defect (endocardial cushion defect)?

Answer 44

Down syndrome

Question 45

What disorder(s) is/are associated with the following congenital cardiac defects: Septal defects, PDA, pulmonary artery stenosis?

Answer 45

Congenital rubella

Question 46

With what disorder(s) are bicuspid aortic valve and coarctation of aorta (preductal) associated?

Answer 46

Turner syndrome (XO)

Question 47

With what disorder(s) are MVP, thoracic aortic aneurysm and dissection, and aortic regurgitation associated?

Answer 47

Marfan’s syndrome

Question 48

With what disorder(s) is transposition of the great vessels associated?

Answer 48

Infant of a diabetic mother

Question 49

When are right-to-left shunts often diagnosed?

Answer 49

Often diagnosed prenatally or become evident immediately after birth

Question 50

What intervention(s) is (are) usually required for right-to-left shunts?

Answer 50

Usually require urgent surgical correction and/or maintenance of a PDA

Question 51

Which congenital heart disease is associated with right ventricular hypertrophy? How does this appear on CXR?

Answer 51

Tetralogy of Fallot - (1) Pulmonary infundibular stenosis (2) RVH (3) Overriding aorta (4) VSD; RVH - boot-shaped hear on CXR

Question 52

Describe the most common presentation of ventricular septal defect.

Answer 52

Asymptomatic at birth, may manifest weeks later or remain asymptomatic throughout life.

Question 53

What is the most common outcome of a VSD? What are possible complications, and in what context do they occur?

Answer 53

Most self resolve; larger lesions may lead to LV overload and heart failure

Question 54

With what clinical context are septum primum versus secondum defects associated?

Answer 54

ASD usually occurs in septum secundum; Septum primum defects usually occur with other anomalies

Question 55

What is the range of symptoms in patients with ASD?

Answer 55

Symptoms range from none to heart failure

Question 56

How is ASD distinct from patent foramen ovale?

Answer 56

Distinct from patent foramen ovale in that septa are missing tissue rather than unfused

Question 57

With what heart defect(s) is (are) coarctation of the aorta associated?

Answer 57

Associated with bicuspid aortic valve, other heart defects

Question 58

In what context can infantile type coarctation of the aorta present?

Answer 58

Can present with closure of the ductus arteriosus (reverse with PGE2).