Congenital Heart Disease
Part Three
Susan A. Raaymakers, MPAS,PA-C, RDCS (AE)(PE)
Radiologic and Imaging Sciences - Echocardiography
Grand Valley State University, Grand Rapids, Michigan
raaymasu@gvsu.edu
Endocardial Cushion Defect
• Types
– Complete
– Incomplete (partial)
• Complete fusion
• Incomplete fusion
– Cleft in anterior mitral leaflet is seen in virtually all endocardial
cushion defects
2
Endocardial Cushion Defect
3
Endocardial Cushion Defect
4
Endocardial Cushion Defect
• Recap
– Normal fusion of the superior and
inferior endocardial cushions
cause division of the common
atrioventricular canal into left and
right sides
– Failure results in atrioventricular
septal defect with various
combinations of
• ostium primum atrial septal
defect,
• inlet ventricular septal defect,
and
• structural abnormalities of the
atrioventricular valves
5
Endocardial Cushion Defect
• Spectrum of lesions
– Partial atrioventricular canal
– Complete atrioventricular canal
– Isolated inlet ventricular septal defect
6
Endocardial Cushion Defect
• 2D echocardiography
– Detailed assessment of every morphologic feature
•
•
•
•
•
Primum portion of atrial septum
Inlet ventricular septum
Atrioventricular valve morphology
Ventriculoatrial septal malalignment
Ventricular outflow tract obstruction
– Four chamber view
• Generally best imaging plane
18.83 Feigenbaum
7
18.81 Feigenbaum
Endocardial Cushion Defect
•
Valve moves freely within the
defect
– Systole
• Atrioventricular valve assumes
basal position obscuring the
primum atrial septal defect
– Diastole
• Atrial portion of the defect may be
examined
• Determine chordal attachments
and presence of straddling
8
Endocardial Cushion Defect
Cleft mitral valve
• Best determined from PSAX
Hyperlink to Yale University Medical
9
Endocardial Cushion Defect
PSAX
• Visualization of both atrial and ventricular septal defects
Non-dynamic image
10
Abnormal Vascular Connections and Structures
11
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Normal fetal vascular channel
– Connects the descending aorta and the main
pulmonary artery
– Provides conduit for blood from the right ventricle to
the thoracic aorta
12
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Patent ductus arteriosus
– Failure of the ductus to close
shortly after birth
– May be desirable dependent
on presence of other
associated anomalies
• Example
– Pulmonary atresia
» Persistent patency of
ductus may be only source
of pulmonary blood flow
13
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Patent ductus arteriosus
– Later in life
• One of the important causes
of the left-to-right shunting
and volume overload of the
left ventricle
– Significance dependent on
size, pulmonary vascular
resistance and presence and
degree of LV dysfunction
14
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• First step - Know what to look for
• Pulmonary arterial end of the ductus is located to the left of
the pulmonary trunk and adjacent to the left pulmonary artery
(LPA)
• Aortic insertion is opposite to pulmonary arterial end and just
beyond the origin of the left subclavian artery
15
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Funnel-shaped ductus
–Aortic orifice of channel is typically larger
than orifice of pulmonary orifice
16
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Echocardiography
– High parasternal short-axis
Left: Prior to coil occlusion Right: Post coil occlusion
DAo
18.88a&b Feigenbaum
17
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Echocardiography
– Magnitude of the shunt and degree of pulmonary
artery hypertension
• Left-to-right shunt results in volume overload of the LV
• Degree of left atrial and left ventricular dilation: useful marker
of magnitude of shunting
– Dilated and hyperdynamic: sign of volume overload and in
absence of other causes indicative of left-to-right shunt
18
Abnormal Vascular Connections and Structures
Patent Ductus Arteriosus
• Magnitude of the shunt and degree of pulmonary artery
hypertension - continued
– Doppler
• High-velocity turbulent flow occurs continuously in a left-to-right
direction reaching a peak in late systole
• If ductus is long >7 mm, simplified Bernoulli equation may be
inaccurate
• Bidirectional shunting
– Implies elevated pulmonary vascular resistance.
– Flow occurs form right to left in early systole and left to right in late
systole and diastole
19
Abnormal Vascular Connections and Structures
Abnormal Systemic Venous Connections
• Dilated coronary sinus
– May be result of
• PLSVC or
• Anomalous pulmonary vein
Non-dynamic
18.91 Feigenbaum
20
Abnormal Vascular Connections and Structures
Abnormal Systemic Venous Connections
• Persistent LSVC
– Most common congenital anomaly involving the systemic veins
– Occurs in approximately
• 0.5% of general population
• 10% of patients with congenital heart disease
– Most cases: drain into the right atrium through the coronary sinus
• Predisposed to arrhythmias and heart block
Contrast injection into
left arm vein
demonstrating PLSVC
draining into CS
21
Abnormal Vascular Connections and Structures
Abnormal Systemic Venous Connections
• Persistent LSVC
– May drain into the left atrium or a pulmonary vein
resulting in a right-to-left shunt
• Atrial septal defects common
Dynamic image - Yale
Non-dynamic image
SSN view
22
Abnormal Vascular Connections and Structures
Abnormal Pulmonary Venous Connections
Anomalous pulmonary venous return
• Total
• Partial
23
Total anomalous pulmonary venous
return
• Drainage of all 4 pulmonary veins
into a systemic venous tributary of
the RA or into the right atrium itself
• Connections may be above or below
the diaphragm and may involve an
element of obstruction
• Some degree of intratrial mixing is
mandatory
– Survival from infancy without
palliation/repair is unlikely
24
Total Anomalous Pulmonary Venous Return
•
Types
– Supracardiac (40%). The pulmonary veins drain into a confluence of veins (the
common pulmonary vein) located behind the left atrium, and then upwards
through a vertical vein into the innominate or azygous vein to return to the right
atrium via the superior vena cava.
– Intracardiac (40%). The confluence of veins drain most commonly into the
coronary sinus or less often directly into the right atrium.
– Infracardiac (20%). The confluence of veins behind the left atrium drains
downward through the diaphragm through the esophageal hiatus to the portal
system, reentering the heart through the venous duct or inferior vena cava.
– Mixed (rare). Any combination of anatomic entry is possible.
supracardiac
infracardiac
25
Total Anomalous Venous
Return
Echocardiography
• Diagnosis dependent on visualization of
termination of all pulmonary veins and detection
of venous confluence with connection to the right
atrium, coronary sinus, or vena cava
• PLAX, Apical, SSN and Subcostal
26
Partial anomalous pulmonary venous return
• Usually one or two anomalous veins connect to right
side rather than LA
• Occurs in
– 10% of patients with an ostium secundum ASD
– >80% of patients with sinus venosus defect
• Most common anomalous connections (in decreasing
order of frequency)
– Right upper pulmonary vein connecting to the RA or SVC
(>90% pf cases and often in association with a sinus venosus
ASD)
– Left pulmonary veins connecting to an innominate vein
– Right pulmonary veins connecting to the inferior vena cava
27
Partial anomalous pulmonary venous return
• Difficult to diagnose
– Technical problems in identifying all four pulmonary venous
connections
– Consider diagnosis when atrial septal defect and/or dilation of
the right side of the heart
– Most often: anomaly involves R pulmonary veins and abnormal
connection is usually near the right side of the atrial septum or
base of the SVC
28
Abnormalities of the Coronary Circulation
29
Abnormalities of the Coronary Circulation
• Coronary Artery Fistulae
• Anomalous Origin Of The Coronary
Arteries
• Coronary Artery Aneurysms
30
Abnormalities of the Coronary Circulation
• Coronary Artery Fistulae
– Rare anomaly sequela of abnormal connection between a
coronary artery and another vessel or chamber
• Coronary vein, pulmonary artery or the right ventricle
– Connection results a left-to-right shunt and continuous murmur
(may be confused with PDA)
Coronary
artery fistula
with
pulmonary
trunk and
LAD.
31
Abnormalities of the Coronary Circulation
• Coronary Artery Fistulae
– Uniform dilation of involved coronary artery, often
severe
– Detection of turbulent flow within the right ventricle or
pulmonary artery may help identify location
– Chamber dilation may be present if large L-to-R shunt
32
18.97 Feigenbaum
Abnormalities of the Coronary Circulation
• Coronary Artery Aneurysms
– Usually occur in association with Kawasaki
• Localized dilated segments
• Multiple and may occur in any segment
• Sometimes lined with thrombi
33
Coronary Aneurysms
– Usually occur in association with Kawasaki
•
•
•
•
Localized dilated segments
Multiple and may occur in any segment
Sometimes lined with thrombi
Presence of pericardial effusion increases the
likelihood of Kawasaki
RCA Saccular aneurysm
LCA Saccular aneurysm
Aorta
18.99 Feigenbaum
34
35
Abnormalities of the Coronary Circulation
• Anomalous Origin Of The Coronary
Arteries
– Present in approximately 1% of patients
undergoing cardiac catheterization
– Most frequently encountered:
• Circumflex (Cx) from right coronary sinus
• RCA from left sinus
– Anomalies are of particular relevance when
the course of the aberrant artery passes
between the aorta and the pulmonary trunk
36
Abnormalities of the Coronary Circulation
• PSAX
– Ostia and proximal coronary arteries
• Permits determination of the size and initial course of the
arteries
• Importance for surgical repair
– Tetrology of Fallot and Transposition of the Great
Arteries (TGA)
Non-dynamic
37
Abnormalities of the Coronary Circulation
• Anomalous origin of LCA from pulmonary trunk:
one of the causes of failure in a neonate
– RCA is dilated the left coronary ostium is absent for
the aortic root
38
Conotruncal Abnormalities
39
Conotruncal Abnormalities
Tetralogy of Fallot
– Most common form of cyanotic congenital
heart disease
• May escape diagnosis until later in life
40
Conotruncal Abnormalities
Tetralogy of Fallot (TOF)
–
Four anatomic features
1. Anterior and rightward displacement of the
aortic root
2. Ventricular septal defect
3. Right ventricular outflow tract obstruction
4. Right ventricular hypertrophy
41
Conotruncal Abnormalities
Critical development is the malalignment of
the infundibular septum
• Resulting in a:
– Nonrestrictive infundibular (and sometimes
perimembranous) septal defect and
– Overriding of the aorta
42
Conotruncal Abnormalities
Echocardiography - TOF
• PLAX
43
18.100 Feigenbaum
Conotruncal Abnormalities
Echocardiography - TOF
• PSAX
– Determination of extent and size of the septal defect
– RVOT assessment
• Most cases: displacement of infundibular septum produces the characteristic
subvalvular narrowing
– Greater the overriding aorta: greater subvalvular narrowing
• Various combinations
– Pulmonary anulus and/or valve stenosis
– Proximal pulmonary arteries may be hypoplastic
– Pulmonary atresia: lung perfusion dependent on systemic to pulmonary artery collaterals
and PDA
http://www.childrenshospital.org/cfapps/mml/index.cfm?CAT=media&MEDIA_ID=1386
44
Conotruncal Abnormalities
Echocardiography – TOF
• Utilize color flow Doppler with continuous
wave Doppler to determine gradient across
various levels of obstruction
• Determine size of the pulmonary arteries for
surgical intervention
45
http://www.childrenshospital.org/cfapps/mml/index.cfm?CAT=media&MEDIA_ID=1844
Conotruncal Abnormalities
Echocardiography – TOF
• Coronary artery anatomy
– Branch crossing the RVOT
• LAD from RCA or conus branch (10%)
46
Conotruncal Abnormalities
Echocardiography – TOF
• Rule out
– Right aortic arch (30%)
– ASD (25%) Pentalogy of Fallot
47
48
Conotruncal Abnormalities
Tetrology of Fallot
Repair/Palliation
• Echocardiography plays
key role in assessment
post surgery
– Assess VSD patch
• Residual shunting may
be detected (10-25%)
– RVOT residual stenosis
• mild obstruction 25–
40mmHg present in 7080%
– Pulmonary regurgitation is
common
49
Conotruncal Anbormalities
Transposition of the Great Arteries
50
Conotruncal Abnormalities
Transposition of the Great Arteries
• Normal truncal development
– Pulmonary artery arises anterior and
leftward of the aorta
– Initial course is posterior and then bifurcates
into left and right branches
– Aortic valve is more posterior and rightward
– Course of the aorta is oblique with reference
to the pulmonary artery
– Aorta does not bifurcate but forms an arch
as it passes posteriorly and inferiorly
– Outflow tracts and great arteries of right and
left sides of the heart appear to wrap around
one another in a spiral fashion
51
Conotruncal Abnormalities
Transposition of the Great Arteries
• Transposition development
– More parallel alignment of the great arteries
– 2D echocardiography
• Appearance is “double-barrel” rather than
“circle and sausage”
52
Conotruncal Abnormalities
Transposition of the Great Arteries
53
Conotruncal Abnormalities
Transposition of the Great Arteries
• D-transposition vs. L-transposition
– D-transposition
• Atrioventricular concordance
• Morphologic right ventricle lies to right of
morphologic left ventricle
– L-transposition
• Ventricular inversion
• Atrioventricular discordance
– Morphologic right ventricle is to the left of the
morphologic left ventricle
54
Conotruncal Abnormalities
Transposition of the Great Arteries
• D-transposition
– Adults
• PSAX
– Aortic valve is usually anterior and to the right of the pulmonary
valve
– Aorta may lie directly anterior or slightly to the left of the
pulmonary valve
Non-dynamic
55
Conotruncal Abnormalities
Transposition of the Great Arteries
• D-transposition
– Ventriculoarterial discordance alone
results in creation of two parallel circuits
• Incompatible with life
• Mixture of arterial and venous blood must
exist for survival
– Secundum ASD: present in most patients
» May need atrial septostomy if
inadequate communication for
palliative measure
– Approximately 1/3 patients also have VSD
» location is variable, mostly involves
the outlet septum and is associated
with pulmonary artery overriding
56
Conotruncal Abnormalities
Transposition of the Great Arteries
• D-transposition
– More than 50% of pulmonary artery is committed
to the left ventricle
– Pulmonary-mitral continuity
– Both of the above features are best evaluated
from PLAX view
57
18.106B Feigenbaum
Conotruncal Abnormalities
Transposition of the Great Arteries
• D-transposition (d-TGA)
– Additional lesions
• Subaortic stenosis (i.e. RVOT)
• Tricuspid (i.e. systemic atrioventricular) valve
abnormalities
• Subpulmonary (i.e. LVOT) may also be
present
• Most cases dynamic form of obstruction due to
systolic bowing of septum into the left ventricle
58
Conotruncal Abnormalities
Transposition of the Great Arteries
• D-transposition (d-TGA)
– Ventricular size and function
• RV becomes dilated and hypertrophied due to systemic
pressure needed
• LV is often small and relatively thin walled
• Septal curvature is reversed with
– RV assuming a rounded configuration
– LV becoming more crescent-shaped
Non-dynamic
59
60
Conotruncal Abnormalities
Transposition of the Great Arteries
D-transposition - Baffle
• A. Relationship of systemic venous atrium (SVA) and pulmonary
venous atrium (PVA)
• B. Systemic atrioventricular valve regurgitation
• C. Apical view demonstrating pulmonary artery arising from the
posterior left ventricle
Non-dynamic
61
Conotruncal Abnormalities
Transposition of the Great Arteries
D-transposition – Baffle
• Assess for obstruction and leaks within baffle
• Diastolic continuous flow >1 m/sec in SVC or IVC
– >2 m/sec indicates significant obstruction
» Lower velocity does not exclude possibility of obstruction
Systemic venous
atrium
Pulmonary
venous atrium
Pulmonary
venous atrium
18.109A&B Feigenbaum
62
Conotruncal Abnormalities
Transposition of the Great Arteries
D-transposition – Baffle
• Assess for obstruction and leaks within baffle
– Leak acts as ASD
• Right to left or pulmonary venous atrium to systemic venous atrium
Systemic venous
atrium
Pulmonary
venous atrium
18.110 Feigenbaum
63
64
Conotruncal Abnormalities
Transposition of the Great Arteries
L-transposition (l-TGA)
• Isolated ventricular inversion
– Morphologic RV is to the left of morphologic LV
• Ventriculoarterial discordant
65
Conotruncal Abnormalities
Transposition of the Great Arteries
L-transposition (l-TGA)
•Diagram showing the normal embryology of the heart
and abnormal ventricular looping resulting in
atrioventricular ventriculo-atrial discordance.
•While the primordia of both ventricles form a loop, both
the caudal atrial segment and the cephalic conus (the
primordia to the outflow tract) develop.
•Thereafter, the truncus appears. The aorticopulmonary
septum, which has a spiral course, divides the truncus into
aorta and pulmonary trunk. The conus becomes
incorporated into the walls of the ventricle.
•In a normal relationship, the pulmonary artery is anterior
and to the right of the aorta. It has been suggested that
anomalous looping of the primordia of the ventricle
associated with lack of spiral rotation of the conotruncal
septum results in this disorder.
66
Conotruncal Abnormalities
Transposition of the Great Arteries
L-transposition (l-TGA)
• Associated anomalies are common
– Structural abnormalities of the left-sided tricuspid valve occur in
most patients
• Ebstein-like deformity and TR
– Perimembranous VSD is present in 70%
– Valvular or subvalvular pulmonary stenosis (LVOT) is occasionally
present
– Right (systemic) ventricular function is frequently abnormal
67
Non-dynamic
Conotruncal Abnormalities
Double Outlet Right Ventricle
68
Conotruncal Abnormalities
Double Outlet Right Ventricle
•
•
•
•
Both great arteries arise predominantly from the RV
VSD provides only outlet for LV
Overriding posterior artery >50%
May have lack of fibrous continuity between posterior semilunar valve
and the anterior mitral leaflet
• Echocardiography assessment
– Great artery relations
– Determination of size and type of VSD
– Presence of additional lesions (especially PS and ASD)
69
Non-dynamic
Conotruncal Abnormalities
Persistent Truncus Arteriosus
• Features
– Single great vessel arising from the base of
the heart and dividing into systemic and
pulmonary arteries
– Outlet VSD
– Single semilunar valve
70
Conotruncal Abnormalities
Persistent Truncus Arteriosus
• Result of a failure of partitioning involving the conus,
truncus arteriosus and aortic sac
• Truncal valve is often large and structurally abnormal,
sometimes with significant regurgitation
– Positioned directly over VSD and usually originates equally
from the two ventricles
71
Conotruncal Abnormalities
Persistent Truncus Arteriosus
• Origin of pulmonary arteries from truncus is variable
• Classified by types
– I (most common)
• Short main pulmonary artery arises from the truncus before dividing
into the left and right branches
– II
• No main pulmonary artery is present
• Left and right pulmonary branches arise separately form the posterior
wall of the truncus
72
Conotruncal Abnormalities
Persistent Truncus Arteriosus
• Echocardiography
– Demonstration of
• Single large great artery
arising from the base of
the heart and
• Overriding an outlet
ventricular septal defect
– Diagnosis can not be
made from PLAX alone
• Must evaluate pulmonary
arteries as branch from
from the truncus
Non-dynamic
73
Conotruncal Abnormalities
Aortopulmonary Window
• Related anomaly to persistent
truncus arteriosus
– Ventricular septum is intact
– Two semilunar valves are present
– Two great arteries arise form base of
the heart
– Incomplete partitioning of the truncus
results in a communication between
the proximal aorta and the main
pulmonary artery usually just above
the semilunar valves
74