Atrioventricular septal defect

AVCD redirects here. For audio VCD, see Video CD.

Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as common atrioventricular canal (CAVC) or "endocardial
cushion defect, is characterized by a deciency of the
atrioventricular septum of the heart. It is caused by an abnormal or inadequate fusion of the superior and inferior
endocardial cushions with the mid portion of the atrial
septum and the muscular portion of the ventricular sep1.1
tum.

atrium in particular, and this in turn causes congestion in the veins draining the lungs. The eect on
the baby is to worsen the heart failure that is associated with an isolated VSD and to hasten the onset
of pulmonary hypertension. It should be mentioned
that CAVSD is found in approximately one-third of
babies who have Down syndrome, but it also occurs
as an isolated abnormality.

Symptoms

Symptoms include diculty breathing (dyspnea) and

bluish discoloration on skin and lips (cyanosis). A newborn baby will show signs of heart failure such as edema,
fatigue, wheezing, sweating and irregular heartbeat.[1]

Classication

A variety of dierent classications have been used, but

the defects are usefully divided into partial and complete forms.

2 Pathophysiology

In the partial AVSD, there is a defect in the primum

If there is a defect in the septum, it is possible for blood
or inferior part of the atrial septum but no direct into travel from the left side of the heart to the right side of
traventricular communication (ostium primum dethe heart, or the other way around. Since the right side of
fect).
the heart contains venous blood with a low oxygen content, and the left side of the heart contains arterial blood
In the complete AVSD (CAVSD), there is a large
with a high oxygen content, it is benecial to prevent any
ventricular component beneath either or both the sucommunication between the two sides of the heart and
perior or inferior bridging leaets of the AV valve.
prevent the blood from the two sides of the heart from
The defect involves the whole area of the junction
mixing with each other.
of the upper and lower chambers of the heart, i.e.
where the atria join the ventricles. There is a large
hole between the lower portion of the atria and the
upper or `inlet' portion of the ventricles and this
is associated with a signicant abnormality of the
valves separating the atria from the ventricles. The
valves in eect become a common atrio-ventricular
valve, and the severity of the defect depends largely
on the supporting attachments of the valve to the
ventricles and whether the valve allows dominant
ow from the right atrium to right ventricle and from
left atrium to left ventricle (unbalanced ow). The
overall problems are similar to those of VSD but
are more complicated. There is an increased ow
of blood to the lungs through both the ventricular
and atrial components of the defect. In addition, the
abnormal atrio-ventricular valve invariably leaks, so
that when the ventricles contract, blood ows not
only forwards to the body and the lungs, but also
backwards into the atria. The back-pressure eect
on the atria causes congestion of blood in the left
1

Associated conditions

Down syndrome is often associated with AVCD. Other

risk factors include: having a parent with a congenital
heart defect, alcohol use while pregnant, uncontrolled
diabetes treatment during pregnancy and some medications during pregnancy.[1]

TREATMENT

canal defect.[6]

4 Diagnosis

This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy
syndromes.[2] Forty-ve percent of children with Down
syndrome have congenital heart disease. Of these, 35
40% have AV septal defects.[3] Similarly, one-third of all
children born with AVSDs also have Down syndrome.[4]
A study also showed that there is also an increased risk of
atrioventricular canal in patients who suer from Noonan
syndrome. The pattern seen in those patients with Noonan syndrome dier from those patients who have Down
syndrome in that partial AVCD is more prevalent in
those who suer from NS, where as those who suer
from down syndrome show a prevalence of the com- Ultrasound showing a complete atrioventricular septal defect
plete form of AVCD.[5]
AVSDs can be detected by cardiac auscultation; they
cause atypical murmurs and loud heart tones.[7] Conr3.1 Genetic Relationship
mation of ndings from cardiac auscultation can be obtained with a cardiac ultrasound (echocardiography - less
invasive) and cardiac catheterization (more invasive).
Tentative diagnosis can also be made in utero via fetal
echocardiogram. An AVSD diagnosis made before birth
is a marker for Down syndrome, although other signs and
further testing are required before any denitive conrmation of either can be made.

5 Treatment
This picture shows how dierent individuals (homozygous positive +/+, heterozygous null +/-, or homozygous null -/- dier in
the development of the heart.

TBX2 is a T-box transcription factor and is usually expressed during various areas of embryogenesis. One notable expression is when it is shown in the development
of the outow system and atrioventricular canal of the
developing heart.
In a study, they used targeted mutagenesis in mice to
delete Tbx2 locus in some specimen. The results showed
that mice who were homozygous and heterozygous null
(+/+ & +/-) for Tbx2 resulted in the development of a
healthier heart, while those who were homozygous null
(-/-) for Tbx2 died early because of the inability of the
heart to supply the body. It showed that there was insufcient formation of the endocardial cushion. There was
a clear abnormality not only in the atrioventricular canal
but also in the left ventricle. This study supports the fact
that Tbx2 expression is important in the development of
proper chamber dierentiation, and in turn cannot have
a direct relation to the development of atrioventricular

Treatment is surgical and involves closure of the atrial and

ventricular septal defects and restoration of a competent
left AV valve as far as is possible. Open surgical procedures require a heart-lung machine and are done with
a median sternotomy. Surgical mortality for uncomplicated ostium primum defects in experienced centers is
2%; for uncomplicated cases of complete atrioventricular
canal, 4% or less. Certain complications such as tetralogy
of Fallot or highly unbalanced ow across the common
AV valve can increase risk signicantly.[8][9]
Infants born with AVSD are generally in sucient health
to not require immediate corrective surgery. If surgery
is not required immediately after birth, the newborn will
be closely monitored for the next several months, and the
operation held-o until the rst signs of lung distress or
heart failure. This gives the infant time to grow, increasing the size of, and thereby the ease of operation on, the
heart, as well as the ease of recovery. Infants will generally require surgery within three to six months, however,
they may be able to go up to two years before the operation becomes necessary, depending on the severity of the

3
defect.[10]

Complications

[7] Atrioventricular septal defect at Mount Sinai Hospital

[8] Kirklin J, Barratt-Boyes B, ed. Cardiac Surgery, New
York: Wiley, 1986:463497.
[9] Marx, GR, Fyler DC, Endiocardial Cusion Defects, in
Keane, JF, Lock, JE, Fyler DC ed. Nadas Pediatric Cardiology 2ed., Philadelphia: Saunders-Elsevier, 2006:663674..

When there are holes in the septum that divide the four
chambers of the heart the oxygen-rich blood and oxygenpoor blood mix this creates more stress on the heart to
pump blood to where oxygen is needed. As a result, you [10] Hay, WW, et al. 2007. Lange Current Pediatric Diagnosis
and Treatment, 18th ed. New York: McGraw-Hill.
get enlargement of the heart, heart failure (being unable to
adequately supply body with needed oxygen, pulmonary [11] Calabro, Raaele & Limongelli, Giuseppe Complete
hypertension, and pneumonia.[1]
Atrioventricular Canal 2006 April 5, US National LiThe development of pulmonary hypertension is very serious. And this because the left ventricle is weakened due
to its overuse. When this happens, the pressure backs up
into the pulmonary veins and the lungs.[1] This type of
damage is irreversible which is why immediate treatment
is recommended after diagnosis.[11]

brary of Medicine National Institutes of Health http://

www.ncbi.nlm.nih.gov/pmc/articles/PMC1459121/

9 External links
Atrioventricular Canal Defect - Stanford Childrens
Health

See also
Atrial septal defect
Congenital heart disease
Heart
Heart sounds
Pulmonary hypertension
Ventricular septal defect

References

[1] Mayo Clinic September 12, 2012"Atrioventricular

Canal
Defect
http://www.mayoclinic.com/health/
atrioventricular-canal-defect/DS00745
[2] Report of the New England Regional Infant Cardiac Program. Pediatrics 1980;65(suppl):441444.
[3] Al-Hay AA et al.: Complete atrioventricular septal defect,
Down syndrome and surgical outcome: Risk factors. Ann
Thorac Surg 2003;75:412.
[4] Atrioventricular Canal Defect at Childrens National
[5] Marino, Bruno Congenital Heart Diseases in Children with Noonan Syndrome: An expanded cardiac spectrum with high prevalence of Atrioventricular
Canal http://www.sciencedirect.com/science/article/pii/
S0022347699700880
[6] Harrelson, Zachary Tbx2 is Essential for Patterning the
Atrioventricular Canal and for Morphogenesis of the Outow Tract During Heart Development 2004 October
15, The Company of Biologists http://dev.biologists.org/
content/131/20/5041.full

Atrioventricular Septal Defect information from

Seattle Childrens Hospital Heart Center
AVSD information, diagram and ash animation
from Cincinnati Childrens Hospital Medical Center
Overview and diagram at umich.edu
Diagram at fairview.org
Atrioventricular septal defect information for parents.

10

10
10.1

TEXT AND IMAGE SOURCES, CONTRIBUTORS, AND LICENSES

Text and image sources, contributors, and licenses

Text

Atrioventricular septal defect Source: http://en.wikipedia.org/wiki/Atrioventricular%20septal%20defect?oldid=640105170 Contributors: Julesd, Rich Farmbrough, Arcadian, Wouterstomp, Ekko, Zwobot, Snalwibma, SmackBot, EncycloPetey, Bluebot, Uthbrian, Niels
Olson, Lambiam, Tls, Dgw, Nilfanion, MER-C, Soulbot, CFCF, Downs Heart Group, A4bot, Oscarosco, Countincr, Ddnile, DumZiBoT, Drmanukrishnan, Addbot, V c Minh, Jburns31780, Luckas-bot, AnomieBOT, Xqbot, FrescoBot, Lotje, Raykyogrou0, ZroBot,
Iamdragonbait, Mentibot, ClueBot NG, MrBill3, EricEnfermero, Ejdjr, Chantal Cooper, LT910001, Jduck30 and Anonymous: 20

10.2

Images

File:CAVC.png Source: http://upload.wikimedia.org/wikipedia/commons/a/a3/CAVC.png License: CC BY 2.0 Contributors: Calabr

R, Limongelli G: Complete atrioventricular canal. Orphanet J Rare Dis. 2006 Apr 5;1:8. PMID 16722604 Original artist: Calabr R,
Limongelli G
File:CommonAtrioventricularCanal.svg Source: http://upload.wikimedia.org/wikipedia/en/d/d1/CommonAtrioventricularCanal.svg
License: CC-BY-SA-3.0 Contributors:
I created this work entirely by myself.
Original artist:
Niels Olson (talk)
File:Tbx2_influence_on_chamber_development_of_heart.jpg Source:
http://upload.wikimedia.org/wikipedia/en/0/0d/Tbx2_
influence_on_chamber_development_of_heart.jpg License: CC-BY-SA-1.0 Contributors:
http://dev.biologists.org/content/131/20/5041.full Original artist:
Zachary Harrelson, Robert Kelly, Sarah N. Goldin, Jeremy J. gibson-Brown, Roni J. Bollag, Lee M. Silver, and Virginia E. Papaioannou

10.3

Content license

Creative Commons Attribution-Share Alike 3.0