Atrioventricular Septal Defect

Dr Ranjith MPSenior Resident

Department of CardiologyGovernment Medical college

Kozhikode

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Atrioventricular Septal Defects are characterized by complete absence of AV septum

Additional features A common atrioventricular ring A five leaflet valve that guards the common AV orifice An unwedged left ventricular outflow tract LV mass characterized by longer distance from apex to aortic valve than

from apex to left AV valve

Also known as Endocardial cushion defect, AV canal defect, canalis atrioventricularis communis, persistent atrioventricular ostium

Definition

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AVSDs account for 4% to 5% of congenital heart disease

New England Regional Infant Cardiac Program - 0.118/1000 livebirths

Baltimore–Washington Infant study defined a prevalence of 0.362

The Alberta Heritage study the prevalence was 0.203 and 0.242 per 1000 live births using invasive or noninvasive methodology for the diagnosis respectively

Gender distribution is approximately equal or may show a slight female preponderance

Incidence

Rogers, Edwards : Recognised morphology of 10ASD in 1948

Wakai, Edwards : Term of partial and complete AV canal defect in 1956

Bharati & Lev : Term of Intermediate & Transitional in 1980

Rastelli: Described the of common anterior leaflet in 1966

Lillehei : 1st repair of AVSD in 1954

Kirklin, Watkin, Gross: Open repair using oxygenator

Historical note

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Result from Faulty development of the endocardial cushions and of the atrioventricular septum

In partial AVSDs, incomplete fusion of the superior and

inferior endocardial cushions results in a cleft in the midportion of the AML , often associated with MR

Complete AVSD associated with lack of fusion between the superior and inferior cushions

Embryogenesis

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Mitral & tricuspid valves achieve the same septal insertion level because the mitral annulus is displaced toward the apex

The distance from mitral annulus to the left ventricular apex is less than the distance from the aortic annulus to the apex

Embryogenesis

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In the normal heart, the aortic valve is wedged between the mitral and tricuspid annuli. In AVSD the aortic valve is displaced anteriorly and creates an elongated, so-called gooseneck deformity of the LVOT

Embryogenesis

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Morphoogy

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Based on the relationships of the anterior bridging leaflets to the crest of the ventricular septum or RV papillary muscles

Rastelli type A : the anterior bridging leaflet is tightly tethered to the crest of the IVS, occurring in 50% to 70%

Rastelli type B : (3%), the anterior bridging leaflet is not attached to the IVS; rather, it is attached to an anomalous RV papillary muscle and is almost always associated with unbalanced AV canal with right dominance

Rastelli type C : (30%) a free-floating anterior leaflet is attached to the anterior papillary muscle.

Anatomical Classification of AVSD(Rastelli”s, 1996)

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Relation Between the Associated Anomalies andRastelli Classification

Kiyoshi suzuki et al J Am Coll Cardiol 1998;31:217–23

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Partial AVSD Most common 20 ASD & LSVC to CS Less frequently- PS, TS or atresia, cor triatriatum, CoA, PDA,

membranous VSD, PV anomalies, and HLV

Complete AVSD Type A usually is an isolated defect and is frequent in patients

with Down syndrome. Type C – TOF, DORV, TGA and heterotaxy syndromes The combination of type C complete AVSD with TOF is observed

Down's syndrome, whereas DORV is a feature of patients with asplenia

Associated anomalies

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Clinical characteristics of genetic disorders associated with AVSD

M. Cristina Digilio et alCardiogenetics 2011; 1:e7

13M. Cristina Digilio et alCardiogenetics 2011; 1:e7

Clinical characteristics of genetic disorders associated with AVSD

14M. Cristina Digilio et alCardiogenetics 2011; 1:e7

Clinical characteristics of genetic disorders associated with AVSD

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Anatomy of AVSD expected to demonstrate one or more of the following hemodynamic changes

Shunting across the atrial septal defect Shunting through the ventricular septal defect Mitral regurgitation Tricuspid regurgitation

Patterns of shunting: obligatory shunting

Hemodynamic changes

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Greater proportion of SVC blood with a low oxygen saturation may cross the IAS to the LA

If AV insufficiency were present blood being ejected from LV to RA

Increase the PO2 of blood in RA, RV, PA

Slightly higher PO2 of blood perfusing the lungs would decrease pulmonary vasoconstriction and increase pulmonary blood flow

It is possible that the lesser degree of constriction of the pulmonary arterioles may retard the development of a thick medial muscle layer, so that a more rapid decrease in PVR may occur after birth

Hemodynamic changes

Fetal physiology

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Infants with ostium 10 defect usually present the same hemodynamic features as those with 20 ASD

As PVR falls after birth, RV after load falls & RV stroke volume increases and exceeds that of the LV. The RV fills preferentially and thus left-to right shunting occurs through the ASD

MR and LV to RA shunting are not usually prominent features in infants with 10 defect

If MR present, in early infancy cardiac failure develops within weeks after birth

Hemodynamic changesEarly infancy

Pulmonary blood flow is increased even though PVR may still be high, because shunting occurs from a high-pressure to a low-pressure chamber

The increased pulmonary blood flow and PA pressure interfere with the normal postnatal maturation of the pulmonary arterioles

The thick medial muscle layer is maintained and the fall in PR is delayed

An interesting association may develop in some infants of an obligatory left-to-right shunt through the atrioventricular septal defect and simultaneous right-to-left shunting through the ductus arteriosus

Pulmonary vascular resistance may be increased above systemic arterial resistance

Hemodynamic changes

later infancy

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Partial AVSD Patients with 10 ASD are usually asymptomatic during childhood. Dyspnea, easy fatigability, recurrent RTI and growth retardation may

be present early in life if associated with major MR or common atrium

Patients with 10 ASD usually have earlier and more severe symptoms than patients with 20 ASD

Complete AVSD Tachypnea and failure to thrive invariably occur early in infancy &

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

Clinical manifestations

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Physical examination Usually undernourished and have signs of CHF Hyperactive precordium with a systolic thrill at the lower

left sternal border is common S1 is accentuated. S2 narrowly splits, P2 increases in

intensity. A grade 3 to 4/6 holosystolic murmur

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ECG Superior” QRS axis with the QRS axis between -40 and -1500

Most of the patients have a prolonged PR interval More than 50% have atrial enlargement RVH or RBBB is present in all cases (2/3rd have rsR, RSR or Rr in

lead V1, and the rest have a qR or R pattern) & many have LVH Chest X-ray

In 10 ASD findings are same as 20 ASD except for enlargement of the LA & LV when MR is significant

In complete AVSD cardiomegaly is always present and involves all four cardiac chambers. Pulmonary vascular markings are increased, and the main PA segment is prominent

ECG & X-ray

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Primary imaging technique for diagnosing AVSD The internal cardiac crux is the most consistent imaging

landmark Apical four-chamber imaging plane clearly visualizes the

internal crux The 10 ASD is seen as an absence of the lower IAS

Echocardiography

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Several echocardiac features are shared by all forms of AVSD:

Deficiency of a portion of the inlet ventricular septum Inferior displacement of the AV valves Attachment of a portion of the left AV valve to the septum The two separate AV valve orifices are equidistant from the

cardiac apex

Echocardiography

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The most common left AV valve abnormality, a cleft, is best visualized from the parasternal and subcostal short-axis imaging planes.

Rarely parachute mitral valve and double-orifice mitral valve also occur

Echocardiography

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In the transitional form of partial AVSD, there is aneurysmal replacement of a portion of the inlet ventricular septum

Echocardiography

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Echocardiography-1

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Echocardiography-1

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Echocardiography-1

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Echocardiography-1

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Echocardiography-2

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Echocardiography-2

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Echocardiography-2

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Echocardiography-2

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Echocardiography-2

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Echocardiography-2

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Rarely required for diagnosis

In older patient it may have a role in assessing the degree of pulmonary vascular obstructive disease or CAD

A large Lt to Rt shunt at the atrial level demonstrated by a significantly higher oxygen saturation sampled from the RA compared with the blood in the IVC & SVC

In complete AVSD the PASP is invariably at or near systemic level, while in partial AVSDs, the PASP is usually <60% of systemic pressure

LV angiography - gooseneck deformation of the LVOT

Cardiac Catheterization & Angiography

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Left to-right shunting increases the oxygen saturation in RA

Sample from high in the SVC usually represents the best

mixed venous oxygen saturation (normal or 40 to 50%)

Usually a further increase in oxygen saturation in the RV

Pulmonary venous oxygen saturation is frequently reduced to 93–95% in older individuals with very large L to R shunts

LA & LV O2 saturation is often decreased to as low as 86–88%

Cardiac Catheterization & Angiography Oxygen saturation data

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The LV angiogram shows features characteristic of AVCD& are best revealed in the hepatoclavicular orientation

The LV outflow tract is elongated and appears narrow

A concavity of the medial border LV that extends along the outflow region to the aorta due to the abnormal attachment of the AML. If it attaches to the ventricular septum or right papillary muscle, LVOT obstruction may be evident

Detect AV valve regurgitation

Cardiac Catheterization & Angiography

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The outcome of live-born patients with AVSD depends on the

specific morphology of the defect The size of the ventricular septal defect Degree of ventricular hypoplasia Degree of AV valve regurgitation Presence or absence of LVOT obstruction Presence or absence of coarctation of aorta Associated syndromes (cardiac and noncardiac)

Natural History

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Patients with the complete form of AVSD and large VSD not undergoing repair die in infancy with CHF & PAH

Those who survive without surgery into childhood usually develop pulmonary vascular obstruction and eventually die with Eisenmenger’s syndrome

Berger and his colleagues found that only 54% of patients born with a complete form of AVSD were alive at 6 months of age, 35% at 12 months, 15% at 24 months, and 4% at 5 years of age

This data would support surgical intervention in the first 3–6 months of age

Natural History

Berger TJ,et al Ann Thorac Surg 1979; 27: 104–11.

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Infants with 10 ASD presenting in infancy have a poor outcome, mainly because of the associated risk factors that bring these infants to early attention

Those with the partial form of AVSD and minimal left AV valve regurgitation seem to fare the best without surgery, although there is still likely considerable morbidity and mortality

According to Somerville, 50% die before 20 years of age and only 25% survive beyond 40 years of age

Atrial fibrillation in these patients was an important cause of late morbidity and mortality

Natural History

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The complete form of AVSD is the most frequent type of CHD associated with trisomy 21

70% of children with complete AVCD display this aneuploidy

Children with Down syndrome show a simple form of AVCD which is usually complete & rarely associated with additional cardiac anomalies (with the only notable exception of TOF)

AVSD and Down syndrome

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Left-sided obstructive lesions are significantly rare in children with AVCD and Down syndrome compared to patients with AVCD without Down syndrome

Accordingly, some types of situs abnormalities such as l-loop of the ventricles, atresia of the AV valves and TGA are virtually absent in subjects with Down syndrome

Surgical correction of AVCD in individuals with Down syndrome results in lower mortality and morbidity rates, compared to the children without trisomy (12.6% Vs 17.8%)

AVSD and Down syndrome

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Patients are at increased risk for the development of pulmonary vascular obstructive disease

These patients have a greater degree of elevation of pulmonary vascular resistance in the first year of life and more rapid progression to fixed pulmonary vascular obstruction than patients without Down syndrome

Chronic upper airway obstruction with macroglossia and an inherently small hypopharynx, hypotonia, the predisposition to chronic infection, an abnormal capillary bed morphology, and the suggestion of pulmonary hypoplasia can all adversely affect the pulmonary vascular bed

surgical correction should be carried out by 6 months

AVSD and Down syndrome

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Incidence 1% in unoperated cases Higher incidence in operated cases 10% may require reoperation to relieve LVOT obstruction more common in partial than in complete AVSD

Etiology Attachments of SBL to ventricular septum Extension of the anterolateral papillary muscle into LVOT Discrete fibrous subaortic stenosis Tissue from an aneurysm of the membranous septum

bowing into the LVOT Septal hypertrophy

LV outflow obstruction in AVSD

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LV outflow obstruction in AVSD

Systolic (left) and diastolic (right) echocardiographics demonstrating LVOT obstruction in a 17-year-old who had repair of a partial AVSD at age 15 months

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PA banding is now performed infrequently in infants with AVSD because the surgical risks of intracardiac repair are not significantly greater than the palliative procedure

Perioperative mortality is about 5%

It is reserved for those few patients in whom intracardiac repair is likely to be associated with a high risk like

Single papillary muscle Severe left ventricular outflow obstruction Unbalanced commitment of the AV valve to the ventricles

Surgical Treatment of AVSD Banding of the pulmonary

artery

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Objectives - closure of the interatrial communication and restoration and preservation of left AV valve competence

These objectives can be accomplished by careful approximation of the edges of the valve cleft with interrupted nonabsorbable sutures

The repair is completed by closure of the interatrial communication (usually with an autologous pericardial patch), avoiding injury to the conduction tissue

This repair results in a two-leaflet valve

Alternatively, if the left AV valve is to be considered a trileaflet valve, with the cleft viewed as a commissure, surgical repair demands that this commissure be left unsutured and that various annuloplastic sutures be placed to promote coaptation of the three leaflets

Surgical Treatment of Partial AVSD

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A: Surgical exposure

B: Closure of the mitral valve cleft

C: Prosthetic patch closure of an 10 defect

D: Repair completed

Surgical Treatment of Partial AVSD

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Surgical repair of complete forms of AVSD is indicated earlier in life than for the partial forms of AVSD

Repair should be done electively before 6 months of age & earlier repair should be considered for infants with failure to thrive

For the symptomatic infant, surgical options include palliative pulmonary artery banding and complete repair of the anomaly

In the modern era complete repair appears to be the procedure of choice

Surgical Treatment of complete AVSD

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Closure of interatrial and interventricular communications, construction of two separate and competent AV valves from available leaflet tissue, and repair of associated defects

Techniques are based on the use of a single patch or double patch (separate atrial and ventricular patches) to close the ASD and VSD and then reconstruction of the left AV valve as a bileaflet valve

Some surgeons consider the cleft of the left AV valve, a true commissures and envision this valve as a trileaflet valve. This is the basis for Carpentier technique for repair of complete AVSD

The two-patch technique has become the method of choice

Surgical Treatment of complete AVSD

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Surgical Treatment of complete AVSD

Carpentier technique for repair of complete AVSD with the double-patch technique. Concept of a trileaflet left atrioventricular valve

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The risk of hospital death for repair is 3%

Determinants of hospital mortality include CHF , cyanosis, failure to thrive, age at operation of <4 years, and moderate to severe MR

20- and 40-yr survivals after repair is 87% and 76% respectively

Closure of the mitral cleft and age <20 years at time of operation is associated with better survival

Surgical outcome

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Partial AVSD: Regurgitation or stenosis of the left AV valve Subaortic stenosis Residual recurrent ASD

Reoperation for MR occurs in 10% to 15% of survivors of primary repair of partial AVSD

Risk factors for reoperation include significant residual MR as assessed intraoperatively at the time of initial repair, the presence of a severely dysplastic mitral valve, and failure to close the cleft in the AML

Repeat repair is possible if valve dysplasia is not severe or when the mechanism of regurgitation is through an unsutured cleft

Replacement of the mitral valve may be required in the presence of a severely dysplastic valve

Re-operation after Repair of AVSD

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Complete AVSD

Needed in 17% of patients during the first 20 years after surgical repair

Lesions requiring reoperation include - left and right AV valve regurgitation, left AV valve stenosis (native and prosthetic), and residual/recurrent ASDs or VSDs

Residual left AV valve regurgitation may result from inadequate surgical reconstruction

Right AV valve regurgitation requiring reoperation is rare . It is more apparent with the presence of PAH or in association with TOF with RV dysfunction owing to persistent RVOT obstruction or PR

Residual shunts are rare causes for late reoperation

Re-operation after Repair of AVSD

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Parachute Deformity of the Mitral Valve Closure of the mitral cleft at the time of repair may result in an

obstructed mitral orifice If the patient has significant AV valve regurgitation, valve

replacement may be the only suitable option

Double-Orifice Mitral Valve The surgeon must resist the temptation of joining the two

orifices by incising the intervening leaflet tissue. The combined opening of both orifices is satisfactory for adequate mitral valve function

Special Problems in Complete AVSD Surgery

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Right or Left Ventricular Hypoplasia The only option for definitive surgical treatment is the modified

Fontan's procedure preceded by adequate pulmonary artery banding in infancy

Subaortic Stenosis If discovered at the time of initial preoperative evaluation,

subaortic stenosis tends to be of the fibromuscular membrane type and should be treated by appropriate resection during surgical repair

Special Problems in Complete AVSD Surgery

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Common atrium is characterized by near absence of the atrial septum

In the presence of two ventricles, it always is associated with an AVSD

Most patients with common atrium present in infancy with symptoms of excess pulmonary blood flow

These patients are symptomatic earlier in life than patients with only a 10 ASD

The precordium is hyperactive with a prominent RV impulse. S2 is widely split and fixed

Special Forms of AVSDCommon Atrium

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P2 intensity proportionate to the severity of pulmonary hypertension

An ESM present over the upper left sternal border. A distinct holosystolic murmur of MR may be heard at the apex. A middiastolic murmur commonly is detected over the lower left sternal border resulting from an increase in right atrial to right ventricular blood flow

The radiographic and electrocardiographic characteristics of patients with common atrium are indistinguishable from those with other forms of AVSD

Special Forms of AVSDCommon Atrium

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Echocardiography Subcostal four-chamber view is most suitable for accurate diagnosis A muscle bundle or band coursing through the atrium should not

be interpreted as an atrial septum

Cardiac Catheterization and Angiography The hemodynamic diagnosis of common atrium depends on the

demonstration of complete mixing of systemic and pulmonary venous blood

The oxygen saturations of pulmonary and systemic arterial blood are nearly identical

Pulmonary blood flow exceeds systemic flow, except in patients with PAH

Right ventricular pressure is increased more often than in 20 ASD or partial AVSD

Special Forms of AVSDCommon Atrium

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If definitive repair is delayed, significant pulmonary vascular obstructive disease may develop more easily than in patients with secundum ASD or partial AVSD

Treatment Medical therapy -Digoxin and diuretic therapy are traditional

forms of therapy Surgical repair, which should be performed early in life

because the patient usually has symptoms and is at risk for developing pulmonary vascular obstructive disease

Special Forms of AVSDCommon Atrium

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One ventricle and its corresponding AV valve are hypoplastic while the other ventricle receives the larger portion of the common AV valve

The most common arrangement is a dominant right ventricle with a hypoplastic left ventricle

The left-sided component of the common AV valve may be stenotic after two-ventricle repair has been performed

Special Forms of AVSDUnbalanced Defect

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THANK YOU

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MCQ

1. Down syndrome most commonly associated with Type A

2. Most common form complete AVCD is Type B.

3. Free interventricular communication exists in type A

4. In type A anterior bridging leaflet has been described as free floating

1.True about complete AVSD is

1. Sinus rhythm is present in most patients with a 1⁰ ASD

2. P-wave changes indicating right atrial, left atrial, or biatrial enlargement are seen in 54% of patients.

3. The mean QRS axis ranges from +30⁰ to +120⁰

4. ventricular volume overload results in the rsR or RSR pattern in the right precordial leads in 84%.

2.False about ECG findings in AVSD is?

1. Single papillary muscle

2. Severe left ventricular outflow obstruction

3. Unbalanced commitment of the AV valve to the ventricles

4. Associated TOF

3. PA banding in AVSD is now reserved for all except?

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1. The only option for definitive surgical treatment in Right or Left Ventricular Hypoplasia is the modified Fontan's procedure preceded by adequate pulmonary artery banding in infancy

2. In double-orifice Mitral Valve, better results by joining two orifices by incising the intervening leaflet tissue

3. Closure of the mitral cleft at the time of repair may result in an obstructed mitral orifice in Parachute Deformity of the Mitral Valve

4. If discovered at the time of initial preoperative evaluation, subaortic stenosis tends to be of the fibromuscular membrane type & should be treated by appropriate resection during surgical repair

4. False statement regarding surgery of AVSD is ?

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1. Oxygen saturation step up from RA to RV

2. Mixed venous sample best represented by low SVC sample

3. Oxygen saturation 93 to 95 in pulmonary vein

4. Left atrial and left ventricular oxygen saturation is often decreased to as low as 86–88%

5. False state regarding cathstudy in AVSD is?

1. Noonan syndrome

2. Down syndrome

3. CHARGE syndrome

4. Ellis-van creveld syndrome

6. Genetic disporder with association of AVCD & left sided

obstruction

7. False about surgical therapy of AVSD is?

1. 20- and 40-yr survivals after repair is 87% and 76% respectively

2. Closure of the mitral cleft and age <20 years at time of operation is associated with better survival

3. Right AV valve regurgitation requiring reoperation is rare

4. The risk of hospital death for repair is 12- 16%

1. Gender distribution is approximately equal or may show a slight female preponderance

2. A five leaflet valve that guards the common AV orifice

3. A wedged left ventricular outflow tract

4. LV mass characterized by longer distance from apex to aortic valve than from apex to left AV valve

8. True statement about AVSD are all except

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1. Inferior displacement of the AV valves

2. The two separate AV valve orifices are not equidistant from the cardiac apex

3. The internal cardiac crux is the most consistent imaging landmark

4. Deficiency of a portion of the inlet ventricular septum

9. False statement regarding echo finding in AVSD is?

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1. Reoperation for MR occurs in 10% to 15% of survivors of primary repair of partial AVSD

2. Replacement of the mitral valve may be required in the presence of a severely dysplastic valve

3. Residual shunts are common causes for late reoperation

4. The risk of hospital death for repair is 3%

10. False statement regarding reoperation after Repair of AVSD is ?

Answers

1. Down syndrome most commonly associated with Type A

2. Most common form complete AVCD is Type B.

3. Free interventricular communication exists in type A

4. In type A anterior bridging leaflet has been described as free floating

1.True about complete AVCD is

1. Sinus rhythm is present in most patients with a 1⁰ ASD

2. P-wave changes indicating right atrial, left atrial, or biatrial enlargement are seen in 54% of patients.

3. The mean QRS axis ranges from +30⁰ to +120⁰

4. ventricular volume overload results in the rsR or RSR pattern in the right precordial leads in 84%.

2.False about ECG findings in AVSD is?

1. Single papillary muscle

2. Severe left ventricular outflow obstruction

3. Unbalanced commitment of the AV valve to the ventricles

4. Associated TOF

3. PA banding in AVSD is now reserved for all except?

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1. The only option for definitive surgical treatment in Right or Left Ventricular Hypoplasia is the modified Fontan's procedure preceded by adequate pulmonary artery banding in infancy

2. In double-orifice Mitral Valve better results by joining two orifices by incising the intervening leaflet tissue

3. Closure of the mitral cleft at the time of repair may result in an obstructed mitral orifice in Parachute Deformity of the Mitral Valve

4. If discovered at the time of initial preoperative evaluation, subaortic stenosis tends to be of the fibromuscular membrane type & should be treated by appropriate resection during surgical repair

4. False statement regarding surgery of AVSD is ?

80

1. Oxygen saturation step up from RA to RV

2. Mixed venous sample best represented by low SVC sample

3. Oxygen saturation 93 to 95 in pulmonary vein

4. Left atrial and left ventricular oxygen saturation is often decreased to as low as 86–88%

5. False state regarding cathstudy in AVSD is?

1. Noonan syndrome

2. Down syndrome

3. CHARGE syndrome

4. Ellis-van creveld syndrome

6. Genetic disporder with association of AVCD & left sided

obstruction

7. False about surgical therapy of AVSD is?

1. 20- and 40-yr survivals after repair is 87% and 76% respectively

2. Closure of the mitral cleft and age <20 years at time of operation is associated with better survival

3. Right AV valve regurgitation requiring reoperation is rare

4. The risk of hospital death for repair is 12- 16%

1. Gender distribution is approximately equal or may show a slight female preponderance

2. A five leaflet valve that guards the common AV orifice

3. A wedged left ventricular outflow tract

4. LV mass characterized by longer distance from apex to aortic valve than from apex to left AV valve

8. True statement about AVSD are all except

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1. Inferior displacement of the AV valves

2. The two separate AV valve orifices are not equidistant from the cardiac apex

3. The internal cardiac crux is the most consistent imaging landmark

4. Deficiency of a portion of the inlet ventricular septum

9. False statement regarding echo finding in AVSD is?

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1. Reoperation for MR occurs in 10% to 15% of survivors of primary repair of partial AVSD

2. Replacement of the mitral valve may be required in the presence of a severely dysplastic valve

3. Residual shunts are common causes for late reoperation

4. The risk of hospital death for repair is 3%

10. False statement regarding reoperation after Repair of AVSD is ?