28 Adult Congenital Heart Disease

Question 1

What are the types of ASD?

Answer 1

A primum ASD is in the inferior part of the IAS.

A secundum ASD is due to an absent fossa ovalis.

A sinus venosus ASD is at the level at which the IVC or SVC enters the RA.

An IAS puncture during a mitral valvuloplasty or a left sided EP study can cause an acquired ASD.

Question 2

What are the symptoms and signs of an ASD?

Answer 2

Symptoms include dyspnoea, recurrent respiratory infections, palpitations (AF) and/or paradoxical emboli.

Signs include AF, S2 wide fixed splitting, systolic murmur in PV region and/or right sided HF.

Question 3

What are ASDs associated with?

Answer 3

RV volume overload, RA/RV dilatation and dysfunction, pulmonary hypertension, TR and PR and/or paradoxical motion of the IVS.

A primum ASD is often associated with a cleft anterior MV leaflet.

A sinus venosus ASD is often associated with partial anomalous pulmonary venous drainage.

Question 4

What are the types of VSD?

Answer 4

A (peri)membranous VSD is in the superior part of the IVS.

A muscular VSD is a in the inferior part of the IVS.

An inlet VSD is posterior to the TV septal leaflet. Associated with an AVSD.

An outlet VSD is inferior to the AV and PV. Associated with AR.

Question 4

How are ASDs and VSDs managed?

Answer 4

Percutaneously (occluder device) or surgically (pericardial or dacron patch).

Question 5

What are the symptoms and signs of a VSD?

Answer 5

Symptoms include HF symptoms and pulmonary hypertension symptoms.

Signs include of a pansystolic murmur at the lower left sternal edge.

Question 6

What are VSDs associated with?

Answer 6

AV prolapse and AR, TR, PR and pulmonary hypertension.

Question 7

What are the 2 AVSDs?

Answer 7

A partial AVSD involves an ASD, but not a VSD, and a common valve (the MV and the TV share a leaflet).

A complete AVSD includes an ASD, a VSD and a common valve.

Question 8

What is a PDA?

Answer 8

A PDA is a left to right shunt allowing blood to flow from the aorta to the PA.

Question 9

What are the symptoms and signs of a PDA?

Answer 9

Tachycardia, wide pulse pressure, bounding pulse, continuous systolic–diastolic machinery murmur, clubbing, and/or cyanosis.

Question 10

How is a PDA assessed?

Answer 10

In the suprasternal view, use CFD to visualise the PDA originating from the aortic arch after the left subclavian artery. In the PLAX outflow view or PSAX AV level view, use CFD to visualise the PDA entering the PA.

Question 11

How are PDAs managed?

Answer 11

Prostaglandin inhibitors and percutaneous or surgical treatment.

In TGA, the PDA is kept open.

Question 12

What is a PFO?

Answer 12

A PFO is a right to left shunt allowing blood to flow from the RA to the LA.

Question 13

What are the signs and symptoms of a PFO?

Answer 13

Paradoxical emboli causing a stroke.

A PFO is not treated but in patients with a stroke, aspirin, warfarin and closure is considered.

Question 14

How is a PFO assessed?

Answer 14

Perform the Valsalva manoeuvre to increase RA pressure.

Perform an an agitated saline bubble contrast study (bubbles in the LA 3-5 cardiac cycles post-injection indicates a PFO).

Question 15

What is Eisenmenger’s Syndrome and what is the pathophysiology?

Answer 15

Eisenmenger’s Syndrome (right to left cardiac shunt) develops if the right sided pressures become greater than the left sided pressures and the shunt reverses to become a right to left shunt.

This is because left to right shunts increase pulmonary blood volume/pressure and cause pulmonary hypertension which increases right sided pressures.

Deoxygenated venous blood bypasses the lungs and decreases the levels of oxygen of the arterial blood. Therefore, patients present with cyanosis, dyspnoea and decreased exercise tolerance.

Question 16

How are cardiac shunts calculated?

Answer 16

SV RVOT = CSA RVOT x VTI RVOT.

SV LVOT = CSA LVOT x VTI LVOT.

SV RVOT:SV LVOT = Qp/Qs (pulmonary/systemic).

Qp/Qs >1 = left to right shunt

Qp/Qs <1 = right to left shunt

Question 17

What are the types of BAV?

Answer 17

A BAV involves two functional cusps with one coaptation line.

There are 3 types of BAV (0, 1 and 2). BAV may present with or without a raphe (cusp fusion line).

Question 18

What are BAV associated with?

Answer 18

Aortic coarctation, AS, AR, aortic root dilatation and IE.

Systolic ejection click.

Question 19

What are the TTE characteristics of a BAV?

Answer 19

Eccentric closure line.

Question 20

What is aortic coarctation?

Answer 20

The narrowing of the aorta. Typically, distal to the origin of the left subclavian artery.

Question 21

What are the symptoms and signs of aortic coarctation?

Answer 21

Symptoms include HF or hypoperfusion.

Signs include hypertension, systolic murmur, weak femoral pulse and/or radio-femoral delay.

Question 22

What is aortic coarctation associated with?

Answer 22

BAV, AS, VSD, LVH, a parachute MV and Turner Syndrome.

Question 23

What are the TTE characteristics of aortic coarctation?

Answer 23

Turbulent or high velocity blow flow.

Anterograde aortic diastolic flow (diastolic tail).

Question 24

How is aortic coarctation managed?

Answer 24

Percutaneously (angioplasty and stenting) or surgically (removal and resection).

Question 25

What is Ebstein’s anomaly?

Answer 25

TV displacement into the RV apex (≥0.8cm/m²).

Part of the RV becomes the RA but contracts with the RV causing RV impairment and TR.

Question 26

What are the symptoms and signs of Ebstein’s anomaly?

Answer 26

Dyspnoea, fatigue, palpitations, right sided HF and/or cyanosis.

Question 27

What is Ebstein’s anomaly associated with?

Answer 27

ASDs, VSDs, PFO, WPW, PS and TR.

Question 28

What is Tetralogy of Fallot?

Answer 28

An overriding aorta, VSD, RVOT obstruction and RVH.

RVOT obstruction is secondary to narrowing of the muscular part of the RVOT. The RVH is secondary to the RV pressure overload due to the RVOT obstruction.

Question 29

How is Ebstein’s anomaly managed?

Answer 29

Treatment of right sided HF, resection of the atrial part of the RV and surgical TR repair or replacement.

Question 30

What are the symptoms and signs of Tetralogy of Fallot?

Answer 30

HF symptoms.

Cyanosis, harsh ejection systolic murmur in the pulmonary area and/or clubbing.

Question 31

What is Tetralogy of Fallot associated with?

Answer 31

PR.

Question 32

What is transposition of the great arteries and congentitally corrected transposition of the great arteries?

Answer 32

Transposition of the aorta and the PA so the aorta arises from the RV and the PA arises from the aorta.

Transposition of both the aorta and the PA and the LV and the RV.

Question 33

How is Tetralogy of Fallot managed?

Answer 33

Primary repair involves VSD closure and RVOT obstruction removal.

Question 34

What is the pathophysiology of transposition of the great arteries and congentitally corrected transposition of the great arteries?

Answer 34

There are two circulatory systems with no mixing of the blood. This causes hypoxemia.

The RV now pumps blood to the high pressure systemic system. This causes RV dysfunction.

Question 35

What are the symptoms and signs of transposition of the great arteries and congentitally corrected transposition of the great arteries?

Answer 35

Cyanosis, tachypnoea, and/or a murmur.

Cyanosis, HF and/or arrhythmias

Question 36

What are transposition of the great arteries and congentitally corrected transposition of the great arteries associated with?

Answer 36

ASDs, VSDs and PDAs.

VSDs, PS and TR.

Question 37

How is transposition of the great arteries and congentitally corrected transposition of the great arteries managed?

Answer 37

Prostaglandin inhibitors to keep the PDA open, balloon atrial septostomy to increase the size of the PFO, surgery to transpose the aorta and the PA.

Medical management for HF and arrhythmias and surgical management for for VSDs, TR and PA banding.

Question 38

What are the causes of sub-valvular and supra-valvular AS?

Answer 38

Sub-valvular AS is due to a fixed obstruction in the LVOT, for example, a fibromuscular structure which may be associated with congenital heart disease, or a mobile (dynamic) obstruction in the LVOT primarily in mid to late systole, for example, in HOCM.

Supra-valvular AS is due to a fixed obstruction in the ascending aorta, above the level of the SoV, due to a narrowing or membrane (e.g. Williams syndrome or surgical repair complication). Supra-valvular AS is rare.

Question 39

What are the TTE characteristics of sub-valvular and supra-valvular AS?

Answer 39

Normal AV anatomy but increased velocities and pressure gradients, fibromuscular structures and/or narrowed aortic root and dilated ascending aorta.