Brief information about clinical manifestation and management of Endocardial Cushion Defect / atrioventricular defect

1. Endocardial
Cushion Defect
Harshitha
Bsc.CVT
MCHP, Manipal
Clinical Manifestations

2. History
 PARTIAL AVSD
• Patients with ASD are usually asymptomatic during childhood
• Dyspnoea, easy fatigability, recurrent RTI and growth retardation may be present
early in life if associated with major MR or common atrium
 COMPLETE AVSD
• Tachypnea and failure to thrive invariably occur early in infancy and virtually all
patients have symptoms by 1 year of age
• if these symptoms do not develop early on the clinician should suspect premature
development of pulmonary vascular obstructive disease

3. Physical examination
 Infants with ECD are usually undernourished and will show signs of CHF.
 This defect is common in infants with Down syndrome.
 Hyperactive precordium with a systolic thrill at the lower left sternal border is
common.
 The S1 is accentuated, S2 is narrowly splits, and the P2 increases in intensity.
 A grade 3 to 4/6 holosystolic murmur is usually audible along the lower left
sternal border.
 The systolic murmur may transmit well to the left back and be heard well at the apex
when mitral regurgitation (MR) is significant.
 A mid-diastolic rumble may be present at the lower left sternal border or at the apex as
a result of relative stenosis of the tricuspid or mitral valve.

4. ECG
 “Superior” QRS axis with the QRS axis between -40 and -150 degrees is
characteristic of the defect
 Prolongation of the P-R interval is observed in approximately 25% of patients
with AVSD (first-degree AV block).
 RVH or RBBB is present in all cases, and many patients have LVH, too.

5. ECG 1

6. ECG 2

7. Xray
 Cardiomegaly is always present and involves all four cardiac chambers.
 Pulmonary vascular markings are increased, and the main PA segment is
prominent.
 The left cardiac border is straightened by a prominent right ventricular outflow
tract.
 In Down’s syndrome, the lateral chest X-ray may show a double manubrial
ossification center and the posterioanterior projection may show absent or
rudimentary 12th rib.
 Hyperinflation of the lung may be present because of upper airway obstruction in
patients with Down’s syndrome.

8. Echocardiography
Apical and subcostal views
 The apical and subcostal four-chamber views are most useful in evaluating the anatomy and
the functional significance of the defect.
 These views show both an ostium primum ASD and an inlet muscular VSD
 Either the anterior bridging leaflet crosses the ventricular septum, or the right and left AV
valve leaflets can be seen at the same level from the crest of the ventricular septum.
 The full extent of the ASD and VSD can be imaged during systole when the common
anterior leaflet is closed.
 A combined use of the subcostal transducer position (i.e., about 45 degrees clockwise from a
standard four-chamber view) and the parasternal short-axis examination may show a cleft in
the mitral valve, the presence of bridging leaflets, the number of AV valve orifices and
the AV valve leaflets.

9.  These views may also image the abnormal position of the anterolateral papillary
muscle, which is displaced posteriorly from its normal position, and the number of
papillary muscles.
 The subcostal five-chamber view may image a goose-neck deformity, which is
characteristic of an angiocardiographic finding
 In real time, the subcostal and apical four-chamber views can image the chordal
attachment of the anterior bridging leaflet to the crest of the ventricular septum (type A),
to the right side of the septum (type B), or to a papillary muscle at the apex of the RV or
on its free wall (type C)

10. Parasternal views
 Parasternal short axis view shows trileaflet left AV valve, presence of cleft mitral
valve , presence of common AV junction and abnormal position of the papillary
muscles in the left ventricle.
 Parasternal long-axis view shows discrepancy in left ventricle inflow and outflow
measurements and presence of LVOTO obstruction.
 Straddling of left AV valve is defined in the parasternal long-axis view,

12. Doppler echo
 Color flow Doppler interrogation compliments the anatomical investigation
by demonstrating the sites of intracardiac shunting and AV regurgitation, as well
as defining any obstruction in the LVOT if present.
 Pulsed and continuous wave Doppler is used for quantitative measurements
to assess pulmonary artery pressure, severity of left ventricular outflow
tract obstruction (LVOTO).
 Note: The quantitative assessment of valvar stenosis is not accurate by
Doppler echocardiography when there is large ASD.
 So, it is important to evaluate valve anatomy by two-dimensional
echocardiography and look especially for dysplasia, tethering of leaflets and
valve orifice. In such cases valve stenosis may manifest after closure of the ASD.

13. 9/5/2020 13

14. 9/5/2020 14

15.  1. Loss of offsetting of atrioventricular valves.
 2. Deficiency of inlet portion of ventricular septum.
 3. Presence of common atrioventricular valve fibrous orifice.
 4. Abnormal morphology of atrioventricular valve cusps.
 5. Abnormal position of papillary muscles.
 6. Longer left ventricular outflow and anterior unwedged position of aorta.
Echocardiographic findings common to AVSD patients

16. Angiography
• Catheterization is indicated only when
there is strong echo-based evidence
of severe pulmonary hypertension.
• The best known angiographic feature
is the Gooseneck malformation.
• The body of the goose is produced by
the abnormal parietal attachment of
the left component of the common
AV junction.
• A large Lt to Rt shunt at atrial
level Show significantly high O2
Saturation from RA compared with
blood from IVC & SVC
• In complete ECD the PASP is at or
near to systemic level
• In partial ECD the PASP is
usually <60% of systemic pressure

17. Natural History
 1. For patients with complete ECD, heart failure occurs 1 to 2 months after birth
and recurrent pneumonia is common.
 2. Without surgical intervention, most patients die by the age of 2 to 3 years.
 3. In the latter half of the first year of life, the survivors begin to develop
pulmonary vascular obstructive disease. These survivors usually die in late
childhood or as young adults.
 4. Infants with Down syndrome are particularly susceptible to the early
development of PVOD during infancy. As a result, surgery should be performed
during infancy

18. Pregnancy
 All women with a history of AVSD should be evaluated when first contemplating
pregnancy to ensure that there are no significant residual hemodynamic problems
that may complicate their management.
 Pregnancy usually is well tolerated by women who have had successful repair of
AVSD.
 In addition, for women with unrepaired partial AVSD, the left-to-right shunt and
the left AV valve regurgitation usually are well tolerated during pregnancy.

19. Management

20. Medical management
 In small infants with CHF, anticongestive management consisting of digoxin,
diuretics, captopril, and so on should be started
 Antibiotics and other supportive measures are indicated for pneumonia and other
infections.
 Antibiotic prophylaxis against SBE is recommended.
 No exercise restriction is indicated in case of partial AVSD

21. Surgical management
Complete ECD
 Indications.
 The presence of complete ECD indicates the need for surgery because an important
hemodynamic derangement is usually present. Most of these infants have CHF that is
unresponsive to medical therapy, and some have elevated pulmonary vascular
resistance.
 Timing
 2 to 4 months of age.
 Early surgical repair is especially important for infants with Down syndrome and
complete ECD because of their known tendency to develop early pulmonary vascular
obstructive disease.

22.  Palliative
• Banding of the PA in early infancy is no longer recommended unless other
associated abnormalities make complete repair a high-risk procedure.
• The mortality rate for PA banding may be as high as 15%.
 Corrective
• Given two ventricles of suitable size and no additional defects, closure of the
primum ASD and inlet VSD and construction of two separate and competent AV
valves are carried out under cardiopulmonary bypass or deep hypothermia, or
both.
• Some surgeons use a single patch to close the ASD and VSD and reconstruction
of the left AV valve as a bileaflet valve, whereas others use a two-patch
technique; one patch for the VSD and a second for the ASD.
• The left AV valve is allowed to persist as a trileaflet structure.
• Mitral valve replacement may become necessary in a few patients.

24. Partial ECD
 Indications and Timing.
• The presence of a partial AV canal or primum ASD is an indication for surgical
repair.
• Elective surgery can be performed in asymptomatic children between 2 and 4
years of age.
• Surgery can be performed earlier in infants with CHF, failure to thrive, MR, or a
common atrium.
 Procedure.
• Under cardiopulmonary bypass, the primum ASD is closed and the cleft mitral
tricuspid valves are reconstructed.

25. mortality
 The mortality rate has been 3% to 10%.
 The survival rate is the same for patients with and without Down syndrome.
 Factors that increase the surgical risk are
• young age, severe AV valve regurgitation, hypoplasia of the LV, increased and fixed
pulmonary vascular resistance, and severe preoperative symptoms.
• Other defects (e.g., double-orifice mitral valve, single left-sided papillary muscle,
additional muscular VSD) increase the surgical risk.
• The hospital mortality rate for complete ECD and TOF is around 10%.
 For partial ECD,
• The surgical mortality rate is approximately 3%.
• Risk factors include the presence of CHF or cyanosis, failure to thrive, and moderate to
severe MR.

26. Complications
 MR becomes persistent or worsens 10% of the time.
 Sinus node dysfunction resulting in bradyarrhythmias may occur.
 Although complete heart block occurs rarely (in <5% of patients), it occurs more
frequently when mitral valve replacement is required (up to 20% of patients).
 Postoperative arrhythmias occur and are usually supraventricular.
 Although rare, subaortic stenosis can develop after surgery

27. Postoperative Follow-up
 An office evaluation should be performed every 6 months to 1 year.
 SBE prophylaxis should be continued as indicated, even after surgery.
 Medications (e.g., digitalis, diuretics, captopril) may be required if residual
hemodynamic abnormalities are present.
 Some restriction of activities may be necessary if significant MR or other
complications exist.
 Rarely, subaortic stenosis may appear after surgical repair of complete ECD
(although it is less frequent than in patients who had primum ASD repair),
requiring surgical resection.

28. Thank You