3. Atrial septal defects
5th most common form of congenital
heart disease and is the most
common form in adult
patients
1 per 1500 live births
6.7% of CHD in live-born infants
4. Atrial septal defects: Atrial Septum
Developement
Septum Primum
Osteum primum: disappears
Osteum secondum
Septum Secondum, right to above
Foramen ovale
5. Atrial septal defects
Types of ASD:
1. Ostium secundum (secundum
ASD or fossa ovalis defect)
Most common (80% of all ASD)
excessive resorption of the septum
primum (foraminal flap) or by
inadequate growth of the septum
secundum
Located centrally in the atrial septum
6. Atrial septal defects
2. Ostium primum
Second most common type
Usually associated with more complex
congenital cardiac anomalies like
ASVD
Located low in the atrial septum
Immediately adjacent to the AV valves
7. Atrial septal defects
3. Sinus venosus
Very rare
5-10% of all ASDs
2 types
Superior sinus venosus
Just inferior to the orifice of the SVC
Blood from SVC to both atria
Anomalous right pulmonary vein drainage
Inferior sinus venosus
Adjacent location to the orifice of IVC
8. Atrial septal defects – Sonographic
criteria
Secundum ASD – cannot be diagnosed
during fetal life
Larger-than-expected area of the foramen
ovale (normal foramen ovale differs by 1
mm or less
from the aortic root diameter at all
gestational ages)
Visualized optimally in subcostal FCV
Color Doppler – helpful (but obscure small
defects)
9. Atrial septal defects – Sonographic
criteria
Primum ASD – the absence of the lower
portion of the atrial septum
Antenatal diagnosis of SV ASD – not
reported yet
10. Atrial septal defects – Prognosis
Depends on association with other
cardiac or non-cardiac anomalies
Isolated ASD – excellent prognosis
Associated anomalies:
Holt –Oram syndrome (ASD+upper
limb deformities) – 100%
T13; T21; Triploidy; Turner syndrome
and etc.,
12. Ventricular septal defects
Interventricular septal regions:
A. View from LV
B. View from RV
1. The membranous septal region
2. The muscular septal region
3. Parietal band or distal conal septum
13. Ventricular septal defects
Most common CHD, 30% of heart
defects diagnosed in live-born infants
Isolated - 75-90% closure within the
1st year of life
2 types of VSD:
Membranous defect (perimembranous)
Muscular defect
14. Ventricular septal defects – Membranous
Commonly associated with other
structural abnormalities
Up to 80% of VSDs
Small membranous – greater chance
of spontaneous closure
15. Ventricular septal defects – Muscular
10-15% of all VSDs
Various in size
Usually multiple defects (“Swiss
cheese defects”)
Spontaneous closure common
Recurrence risk to the siblings – 3%
16. Ventricular septal defects – Sonographic
criteria
Apical FCV - “T” sign (not 100%
reliable)
Best approach – subcostal FCV
Color Doppler – useful to diagnose
(low velocity scale)
Bidirectional VSD can be diagnosed
LVOT view
Membranous defect – highest
probability of detection
19. Ventricular septal defects - Prognosis
Depends on the anatomy and the
degree of hemodynamic change
Samanek et al.,
1-month survival rate – 92%
1-year survival rate 80%
Kidd et al., 1993 - “higher than normal”
incidence of serious arrhythmia and
sudden death in small VSD
21. Atrioventricular septal defects
AKA Endocardial cushion defect / AV
canal defect
Incidence - 17% of all CHDs
Associated with a variety of
syndromes and chromosomal
anomalies
40-80% of AVSD – association with
chromosomal anomalies
T21 – 40% AVSD
More often in females
Associated with Left atrial isomerism,
CHB, septum secundum ASD,
hypoplastic left heart syndrome,
valvular pulmonary stenosis,
coarctation of the aorta, and tetralogy
of Fallot
Associated extracardiac anomalies
are common,
including omphalocele, duodenal
atresia, tracheoesophageal atresia,
facial clefts, cystic hygroma, neural
tube
defects, and multicystic kidneys
22. Atrioventricular septal defects
Suspicion of AVSD:
1. Abnormalities included interatrial and
interventricular septum and AV valves
(mitral and tricuspid)
2. Large septal defects in the center of
the heart
3. Characterized by common annulus
with abnormal arrangement of the
valve leaflets
4. An unwedged position of the aortic
valve
5. Short dimension of the ventricular
inlet
24. Atrioventricular septal defects
AV valve consists of 5 leaflets
1. Anterior bridging leaflet (ABL)
2. Posterior bridging leaflet (PBL)
3. Right lateral mural leaflet (RLM)
4. Left lateral mural leaflet (LLM)
5. Right anterior leaflet (RAL - between
1 and 3)
25. Atrioventricular septal defects
Types of AVSD:
Complete AVSD
Partial AVSD
Levels of shunting:
Interatrial and interventricular shunt
(not attached atrial or ventricular
septal crest)
Interatrial shunt
(attached to the ventricular septal
crest)
26. Atrioventricular septal defects –
Sonographic criteria
Best approach – FCV (subcostal and
apical)
Complete AVSD – easy to recognize
and appears as wide opening within
the center of the heart / single AV
valve
The defect is better visualized in
diastole than in systole
Crux (-)
Balanced; left-dominant; right
dominant; (ABL attachment)
28. Atrioventricular septal defects –
Sonographic criteria
Color Doppler:
open area of flow across the
atrioventricular septal defect and the
abnormal A-V valve
Holosystolic valvular insufficiency
a left ventricular–to–right atrial jet can
be identified across the ostium
primum defect before the
onset of holosystolic valvular
insufficiency
Balanced AVSD
30. Atrioventricular septal defects –
Sonographic criteria
Partial AVSD
May be difficult to diagnose
AV valves are present
Apical FCV
More apical insertion of tricuspid
valve – lost
32. Atrioventricular septal defects -Prognosis
If not corrected – death often occurs
before 15 yrs
If other anomalies are associated –
death occurs in infancy
Late death – rare
34. Ebstein Anomaly
7% of cardiac anomalies in the
fetal population
approximately 1 per 20,000 live births
Associated with use of Lithium
Associated with pulmonary atresia
or stenosis, arrhythmias, and
chromosomal anomalies.
Ebstein anomaly is characterized by
apical displacement of the tricuspid
valve
Enlarged right atrium containing a
portion of the “atrialized” right
ventricle
Reduction in size of the
functional right ventricle
Cardiac dysfunction in utero,
frequently with cardiomegaly,
hydrops, and tachyarrhythmias
36. Ebstein Anomaly: color Doppler
color Doppler: TR causing further RA
enlargement
Tethered distal attachments of the
tricuspid valve, marked right atrial
enlargement
compression with narrowing of the
pulmonary outflow tract are all
associated with a poor prognosis
supraventricular tachycardias, are
common with Ebstein anomaly and
can further compromise the fetus
37. Ebstein Anomaly: Prognosis
the 3-month mortality rate of patients
diagnosed in utero is 80%
Surgical correction of Ebstein
anomaly in young children is
associated with a low mortality and an
excellent quality of life
39. Hypoplastic left heart syndrome
Underdevelopment of the left ventricle,
mitral valve, aorta and aortic valve
Most severe from of CHDs
Most common cause of death from
CHDs in the early neonatal period
13% of all CHDs
More often in males
Always lethal
The primary abnormalities include
aortic atresia, aortic stenosis, and
mitral valve atresia. It is associated
with coarctation of the aorta in 80%
of cases
40. Hypoplastic left heart syndrome –
Sonographic criteria
Easily recognized in utero
Keep in mind – it is progressive lesion!
May not manifest until late 2nd trimester!
Strong correlation with increased NT in
the 1st trimester
FCV – discrepancy of the ventricles,
Extremely small LV
Important! – recognition of LV (RV –
moderator band, tricuspid valve)
3VV, short-axis view – atretic (more
echoic) ascending aorta + enlarged PA
41. Hypoplastic left heart syndrome
Color Doppler: demonstrating the
absence of flow through the
mitral and aortic valves
45. Tetralogy of Fallot
5% to 10% of CHD in live
births
associated with a variety of cardiac
and extracardiac abnormalities and
chromosomal anomalies
Tetralogy of Fallot consists of (1)
VSD, (2) overriding aorta, (3)
hypertrophy of the right ventricle, and
(4) stenosis of the right ventricular
outflow tract
51. Tetralogy of Fallot: Prognosis
Typical cases of tetralogy of Fallot are
repaired at 4 to 6 months of age, with
close to 90% survival at 1 year
Patients surviving early surgery
(before 5 years old) have
a 32-year survival of 90%
The presence of congestive
heart failure in the fetus or newborn
is associated with
17% to 41% mortality
53. Double-Outlet Right Ventricle
Less than 1% of all CHD
Double-outlet RV is associated with other cardiac defects (particularly VSD), various
extracardiac defects, fetal chromosomal anomalies, maternal diabetes, and maternal alcohol
consumption.
56. Double-Outlet Right Ventricle:
Prognosis
With surgical intervention, 10-year
survival is up to 97%
When extracardiac or chromosomal
anomalies are present, prognosis is
poor, with 69% mortality when the
diagnosis of DORV is made in utero
58. Transposition of great arteries
Two types:
complete or dextrotransposition (D-TGA) in 80%
corrected or levotransposition (L-TGA) in 20%
59. Transposition of great arteries –
Sonographic criteria
Recognition of the chambers and
great arteries
Important – Morphologic
characteristics
Sonographic diagnosis – a challenge
60. Transposition of great arteries –
Sonographic criteria
Complete TGA
FCV – completely normal chambers
3VV –
Triangular arrangement
AAo: right and anterior malalignment
3VT – single Aorta left to SVC
61. Transposition of great arteries –
Sonographic criteria
LVOT, RVOT views – great vessels
are parallel, not crossing
AAo: Arises from RV and continues as
the aortic arch and then descending
aorta
PA: from LV and branches into the left
and right PA
62. Transposition of great arteries –
Sonographic criteria
Long-axis view – two side-by-side
circular structure
(instead of PA wrapping around
the circular aorta )
63. Transposition of great arteries –
Sonographic criteria
Long-axis view – two side-by-side
circular structure
(instead of PA wrapping around
the circular aorta )
67. Transposition of great arteries –
Prognosis
After birth, d-TGA is incompatible with
life unless some shunts are presents.
Temporizing shunt is created
before definitive treatment. With
surgical intervention, 12-month
survival can be expected in 80%
In the absence of associated cardiac
anomalies, patients
with corrected TGA may remain
asymptomatic throughout their lives.
69. Coarctation of Aorta
incidence of 6% prenatally
90% of the cases are associated with
other cardiac anomalies, including
abnormal aortic valve (bicuspid or
stenotic), VSD, DORV, and AVSD
Ventricular size discrepancy with a
prominent right ventricle and relatively
small left ventricle
Color Doppler ultrasound is useful in
identifying the area of narrowing.
Spectral Doppler ultrasound may detect
increased flow distal to the narrowed
segment
Many coarctations do not become
evident until closure of the ductus
arteriosus at birth
73. Coarctation of Aorta: Prognosis
Although isolated coarctation has a
good prognosis, 39% mortality is
reported when associated anomalies
are present
74. Cardiac Rhabdomyoma
solid, echogenic masses
singular or multiple, typically
arising from the inter-ventricular septum
30% to 78% have tuberous sclerosis
hemodynamically signifcant by causing
obstruction to the outflow tracts or A-V
valves, resulting in congestive heart
failure, hydrops,
pericardial effusion, and arrhythmias
Prognosis depends on the size, number,
and exact location of the tumor as well
as associated arrhythmias and
anomalies
76. APC
M-mode recording of a fetus with
conducted premature atrial
contractions. The M-mode cursor line
intersects the right atrium (RA) and
left ventricle (LV). Normal atrial
contractions (A) are seen followed by
normal ventricular contractions (V).
Two premature atrial contractions are
shown (arrows) followed by two
premature ventricular contractions
(asterisk)
“loose pocket”
Thicker, relatively immobile septum secundum
VSDs have the highest recurrence rate and the highest association with teratogen exposure
R to L on systole and reverse on diastole
Atrioventricular septal defects are considered balanced when the A-V junction is connected to both the right and the left ventricle, such that blood flow is relatively evenly distributed. If this connection exists with primarily one ventricle, such as in the setting of a hypoplastic left ventricle, it is termed an unbalanced AVSD
Color Doppler during systole at the four-chamber view in two fetuses with Ebstein anomaly demonstrating severe tricuspid regurgitation into the dilated right atrium (RA). Open arrows point to the site of closure of the dysplastic tricuspid valves. Solid arrows point to the attachment of the mitral valves. Note the anatomic origin of the regurgitant jet, deep in the right ventricle (RV), a differentiating point from tricuspid dysplasia
Three-dimensional tomographic display of the chest and abdomen at 30 (A) and33 (B) weeks’ gestation in a fetus with Ebstein anomaly showing the development of ascites at33 weeks (B). This fetus died in utero at 36 weeks’ gestation. RA, right atrium; RV, rightventricle.
Three-vessel-trachea view in a fetus with hypoplastic left heart syndrome in twodimensional (A) and color Doppler (B) imaging. In A, the ascending aorta is not visible on twodimensional ultrasound (open arrow). Color Doppler as seen in B aids in the visualization of theaortic arch (AOA) (open arrow) with reverse blood flow to that of the ductal arch (DA)
Four-chamber view in two-dimensional (A) and color Doppler (B) imaging in a fetus with hypoplastic left heart syndrome at 21 weeks’ gestation. The atrial septum bulges into he right atrium (RA) (black open arrow) due to left-to-right shunting at the foramen ovale. B demonstrates left-to-right blood shunting at the foramen ovale on color Doppler
A: Reverse flow in the transverse aortic arch (AOA) on color Doppler at the three-vessel-trachea view. B: A three-dimensional-rendered image in glass body mode showinga sagittal view of the ductal arch (DA) with retrograde flow across the aortic isthmus (arrow) into the aortic arch. LPA, left pulmonary artery; PA, pulmonary artery
2nd image: A normal, B TOF
concordance discordance
This is nutshell about diagnosis CHD. There are so many heart diseases that can affect fetus. I mentioned only those are important and common.