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DIFFERENTIAL DIAGNOSIS
OF ABNORMAL FINDINGS
Disproportion
Because of the normal right-to-left fetal shunts
through the foramen ovale and the ductus
arteriosus, the fetal ventricles work in parallel,
rather than in series. Thus, inability of one side
of the heart to handle normal blood flow (eg,
because of obstruction or abnormal chamber
filling) leads to redistribution of blood flow
through the contralateral chambers, resulting in
preserved "combined ventricular output." This
redistribution can be partially inferred from the
presence of chamber and vessel disproportion.~0,11
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ment of all four cardiac chambers. Disproportion with right heart enlargement may also be
observed with frequent atrial ectopy in the
absence of observed tachycardia (Well SR,
personal observations, 1992).
Severe or critical pulmonic stenosis or pulmonary atresia with an intact septum can occur
either with right ventricular dilatation or with
right ventricular hypoplasia. Less severe pulmonic stenosis also may be associated with a
disproportionately large right ventricle. This
lesion otherwise may be quite subtle in utero
because of unreliability of valvular gradient
measurements and compensatory redistribution
of blood flow. Lesions associated with significant pulmonary regurgitation, such as the absent pulmonary valve syndrome, also can be
associated with right ventricular dilatation. (Fig
1).13.14
Constriction or occlusion of the ductus arte-
riosus may lead to dilatation of the right ventricle, right atrium, and systemic veins. Diminished right ventricular shortening and/or
significant tricuspid regurgitation also are associated with ductal obstruction, and are due to
increased right ventricular afterload (Fig 2). 15
Right ventricular systolic dysfunction may lead
to right heart dilatation. Such dysfunction may
be caused by a variety of factors and may be
associated with an overall increased heart size.
Diastolic dysfunction may cause right ventricular dilatation and/or hypertrophy, which are
caused by increased filling pressures.
The volume overload associated with tricuspid regurgitation produces dilatation of the right
atrium and ventricle. If the filling pressures
become significantly elevated, the systemic veins
also may dilate. Causes of tricuspid regurgitation include right ventricular dysfunction, valve
dysplasia or Ebstein's anomaly, and the twintwin transfusion syndrome (Figs 3B, C, and 4).
A disproportionately large right ventricle may
also be seen in growth-retarded fetuses. Presumably, this disproportion is caused by cephalization or by redistribution of fetal blood flow to
the head, rather than to the body. The increased
venous return from the head passes through the
right heart, while left heart flow is diminished
because of the usual direction of fetal blood
flOW. 10
A large right ventricle with a small left ventricle should suggest left-sided obstructive lesions;
this condition also is seen in malaligned atrioventricular septal defects and in some cases of
double outlet right ventricle. Two potential
developmental explanations have been offered
to explain left ventricular hypoplasia. First, it is
suggested that inflow or outflow obstruction
shunts blood flow away from the left ventricle,
resulting in a diminished stimulus for growth.
Second, it is argued that the left ventricle is
small because of primary abnormalities in growth
potential or myocardial function. 16,17It is likely
that a variety of causes are responsible.
Left-sided obstructive lesions include mitral
stenosis, aortic stenosis, and aortic coarctation,
which may occur as isolated lesions or in combination with one another (Fig 5). The hypoplastic left heart syndrome is a severe combination
of left-sided obstructive abnormalities. The hypoplastic left heart syndrome involves mitral
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Fig 1. Vascular chest mass in tetralogy of Fallot with absent pulmonary valve syndrome. (A) Note the nearly normal four-chamber
view. In this case, the right ventricle is only mildly dilated relative to the left, and the ventricle septal defect (arrowhead) is seen under
the aortic valve. (B) Same fetus as in 5A. A more anterior view better shows the overriding aorta as well as the dilated pulmonary
artery. (C) A 30-week fetus w h o presented with an echolucent mass that was shown to be dilated main and branch pulmonary
arteries. Note the plate-like pulmonary valve, the narrow annulus, and the dilated pulmonary artery compressing the left atrium. (D)
Continuous wave Doppler shows the typical to-fro pattern across the pulmonary valve. The pulmonic stenosis peak velocity, 3.2
meters/second away from the transducer, suggests a gradient of 41 torr. Pulmonary insufficiency is shown as flow above the
baseline throughout diastole. PS, pulmonic stenosis; PI, pulmonary insufficiency.
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Fig 4 (cont'd), (D) Same fetus as in 7C. Continuous wave Doppler across the tricuspid valve shows a tricuspid regurgitation jet
that is holosystolic, suggesting it is severe. The high peak velocity of 4.39 meters per second suggests a right ventricular pressure of
77 torr greater than right atrial pressure. In the absence of pulmonic stenosis or ductal constriction, this also suggests a systemic
systolic blood pressure of at least 77 torr, which is hypertensive at this gestational age. (E) Biventricular hypertrophy in this fetus
who was the larger of discordant twins with the twin-twin transfusion syndrome, Muscular hypertrophe could be most accurately
quantified using M-mode measurements of wall thicknesses plotted for gestational age. (F) Same fetus as in 7B. The heart appears
large relative to the thorax, The cardiac circumference/thoracic circumference ratio (108.8/187,8| is 0.58, which is well above the
normal value of 0.50. The cardiac area/thoracic area ratio (928/2766) is 0.34, which is just above the normal value of 0.33.
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Fig 5. Ventricular disproportion, right larger than left. (A) A four-chamber view in a fetus w i t h a 2-vessel cord referred to rule out
associated anomalies. Note the slightly larger right ventricle relative to the left. The newborn was asymptomatic but had a bicuspid
aortic valve without aortic stenosis. RV, right ventricle; LV, left ventricle. (B) A short-axis view of the ventricles shows a relatively
large right ventricle, measured on 2-D imaging. The lower frame (obtained from the newborn) shows elongation of the aortic arch
between the left carotid and left subclavian arteries. The newborn had coarctation of the aorta.
tion may be caused either by a structural abnormality (eg, Ebstein's anomaly or dysplastic tricuspid valve) or a functional abnormality of the
right ventricle or papillary muscles (Figs 3B and
C, and 4D). Ebstein's anomaly is a relatively
common structural cause of atrioventricular
valve regurgitation, often leading to the diagnosis of a dilated heart on screening ultrasound
examinations. In this abnormality, the dysplastic (thickened and redundant) valve is displaced
toward the right ventricular apex with abnormal
chordal insertion sites and is pressed against the
right ventricular walls to varying degrees. Ebstein's anomaly results in tricuspid regurgitation
and possible tricuspid and pulmonic stenosis,
with consequent massive enlargement of the
right atrium and the atrialized portion of the
right ventricle. The latter is proximal to the
abnormal valve, which dilates and thins, losing
the capacity to contribute to right ventricular
systolic function. The true right ventricular
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Fig 5 (cont'd). (C) Same patient as in 5A. M-mode allows for more accurate chamber measurement because of its increased frame
rate and differentiation of the phases of the cardiac cycle. Note the left ventricular end-diastolic dimension of 11.7 mm compared
with the right ventricular end-diastolic dimension of 18,0 mm. S, end systole; D, end diastole. (D) The most severe form of ventricular
disproportion with a large right ventricle, In this 19-week fetus with hypoplastic left heart syndrome, the small left atrium and
slit-like left ventricular cavity are not seen well, giving the appearance of a two-chambered heart. RA, right atrium. (E) Same patient
as in D, in a short-axis view. There was severe great vessel disproportion as well. Note the tiny aortic valve, not much laTger than the
normal right coronary artery. AoV, aortic valve; LA, left atrium; RCA, right coronary artery.
and short axis views. The right ventricular outflow tract and pulmonary artery also must be
evaluated by 2-D imaging. Doppler is useful in
evaluating tricuspid inflow and regurgitation.
Color Doppler can show the breadth and direction of the inflow jet as well as regurgitation and
the pattern of right ventricular outflow. Continuous wave Doppler can be used to measure
the peak velocity of the regurgitation to esti-
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EDD - ESD
EDD
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though viral identification is often elusive. Confirmatory cultures or serology, associated anemia, or other sonographic findings such as
echogenic bowel or intracranial calcifications
may support a viral etiology.
Fetal hypoxia may be inferred from clinical
observation, abnormal umbilical cord Doppler,
abnormal blood gases obtained by percutaneous umbilical blood sampling (PUBS), or labile
ventricular dysfunction.
Endocardial fibroelastosis (EFE) appears as
increased echogenicity of the endocardium and
papillary muscles. This lesion may either be
primary or may result from any abnormality that
causes dilatation and increased ventricular filling pressures, thus compromising coronary diastolic blood flow to the endocardium. Endocardial fibroelastosis may be associated with both
systolic and diastolic dysfunction.
Significant outflow obstruction may occur at
the outflow tract or ductus arteriosus. Outflow
tract obstruction may be predicted by severely
diminished size using 2-D imaging and/or increased velocity or spectral dispersion ("turbulence") by Doppler. Although sometimes seen
with ventricular hypoplasia, severe pulmonic or
aortic stenosis or atresia may be associated with
a dilated and poorly contractile right or left
ventricle, respectively. Constriction or occlusion
of the ductus arteriosus may result in dilatation
of the right heart (ventricle, atrium, systemic
veins) associated with diminished right ventricular shortening and/or tricuspid regurgitation.
This problem, which may occur acutely or chronically, commonly is related to maternal indomethacin administration (Fig 2). 14,23 If chronic
and persisting near delivery, ductal constriction
may lead to persistent pulmonary hypertension
in the newborn.
Fetal anemia may result from hemolytic or
infectious disease. Anemia can produce a high
output state--evidenced by chamber enlargement and increased velocities throughout the
heart--compared with gestational age norms
and may progress to hydrops. Unfortunately,
these findings may be relatively insensitive and
nonspecific for diagnosing fetal anemia.
Dysrhythmias that may lead to ventricular
dilatation include both bradydysrhythmias (as
in sinus node dysfunction or heart block associated with structural disease, or heart block secondary to maternal systemic lupus erythemato-
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differentiated from the small amount of lubricating fluid normally present and from the artifactual echolucency of myocardium, accentuated
by hypertrophy, that is known as a "halo" effect.
Imaging from multiple views and M-mode may
be helpful in evaluating movement of the echolucent region with the cardiac cycle. Usually the
fluid is echolucent but may appear shaggy or
particulate, particularly with infectious pericarditis. Other causes of pericardial effusion include hydrops fetalis from any number of etiologies, such as profound or acute anemia or
twin-twin transfusion syndrome. Hydrops often
is associated with hypoalbuminemia. Pericardial effusions may also be seen with or without
pleural effusions, cystic hygromata, or gross
hydrops in Turner syndrome or Noonan syndrome. The significance of a pericardial effusion may be diagnostic as well as hemodynamic.
A large fluid collection may impair cardiac
filling and lead to compression of the ventricles
and atria with dilatation of systemic veins.
Chest masses. The referring indication for a
fetal echocardiographic study is sometimes a
chest mass. When this mass is hypoechoic, the
examiner must determine if the "mass" actually
is a vascular structure. Doppler is useful in this
situation, as is evaluation of the anatomic connection of the mass to the cardiovascular system. The large right atrium in Ebstein's anomaly and the large branch pulmonary arteries in
absent pulmonary valve syndrome often present
as vascular chest masses on screening ultrasonographic examination (Fig 1).
Septal Defects and Other Shunt Lesions
In general, isolated septal defects do not lead
to a large heart in utero, because elevated
pulmonary vascular resistance prevents significant pulmonary overcirculation. Difficulty in
diagnosis also is related to the equal ventricular
pressures and normal fetal shunts within the
normal fetal circulation.
Atrial septal defects can be obscured by the
presence of the obligate right-to-left shunt across
the foramen ovale. True deficiency of atrial
septum in the area of the fossa ovalis (septum
primum) may not be recognizable prenatally.
However, extensive deficiency of the atrial septurn, such as in common atrium, should be
recognized, particularly with views perpendicular to the septum that decrease artifactual
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attenuation. In addition, defects in other portions of the septum, such as a sinus venosus
defect near the vena cavae, may be more easily
seen. Atrioventricular septal defects (AV canal)
may be recognized, as described above, by the
deficiency in atrial and ventricular septa and the
common atrioventricular valve. = Although
shunting typically is minimal, there may be
evidence of valve regurgitation, ventricular and
great vessel disproportion, and pulmonary venous connection abnormalities. These defects,
in particular, merit testing for genetic diagnosis,
and those considered part of heterotaxy syndrome require careful evaluation for systemic
and pulmonary venous abnormalities as well as
outflow obstruction (Fig 3A).
Ventricular septal defects may be present in
any region of the ventricular septum. Because
the structure is somewhat helical~rather than flat,
evaluating it for defects requires systematic and
thorough interrogation of all the parts of the
septum: inlet, muscular trabecular, membranous,
and outlet. Color and pulsed wave Doppler may
offer some help. Although there is little net
shunting across these defects in utero, there
commonly is a small amount of bidirectional
shunting with the cardiac cycle, with the shunt
from left ventricle to right ventricle in systole
caused by asynchronous pressure changes during contraction and relaxation of the ventricles.
Inlet ventricular septal defects involve the
posterior portion of the septum near the atrioventricular valves. They may extend to the
muscular or membranous septum, or be part of
a complete atrioventricular septal defect (AV
canal). These are best identified on the fourchamber view, with Doppler interrogation for
evidence of valve regurgitation. Short-axis views
are helpful also.
Small or large defects may involve the muscular trabecular septum, which is best seen on
four-chamber and short-axis views.
Defects of the membranous septum are common. They may extend to any of the other areas
of the ventricular septum (inlet, muscular trabecular, or outlet) and, therefore, are designated
perimembranous ventricular septal defects.
These defects are best seen on the parasternal
short axis view in which the aorta appears as a
circle in the center of the heart. The membranous septum is seen below the tricuspid valve, at
approximately 11 o'clock if the right ventricular
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The traditional cardiac evaluation for congenital heart disease involves segmental examination and description. This approach requires
assessment of the heart and great veins and
arteries at multiple levels. This involves determination of abdominal and atrial situs and pulmo-
Fig 7. Conotruncal abnormalities. In these examples, as in most conotruncal lesions, the four-chamber view is normal and images
of the outflow tracts are required to identify congenital heart disease. (A) A fetus with transposition of the great arteries. The aorta is
anterior to the pulmonary artery, which is seen to bifurcate. A, anterior; P, posterior; / , left; R, right; LV, left ventricle; RV, right
ventricle; AoV, aortic valve; Asterisks, pulmonary valve; RPA, right pulmonary artery; LPA, left pulmonary artery. (B) Another fetus
with transposition of the great arteries. The left ventricle gives rise to the pulmonary artery. PA, pulmonary artery. (C) The same fetus
as in B. The anterior right ventricle gives rise to the aortic arch (arrowheads). (D) A fetus with tetralogy of Fallot. Note the overriding
aorta that arises from both ventricles over the ventricular septal defect (arrow).
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Rhabdomyomas, associated with tuberous sclerosis, may be singular or multiple. They arise
from the muscular walls and may result in a
"shaggy" appearance of the normally smooth
left ventricular septal surface. Their cardiovascular significance results from their size and
location, which may result in obstruction, and
from their potential for triggering dysrhythmias.
DIRECTED STUDIES IN SPECIAL
CLINICAL SITUATIONS
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Dysrhythmias
Abnormal heart rhythm is often the reason
for referral in patients presenting for fetal heart
study. 24-27 Persistent fast heart rhythms such as
atrial tachycardia and flutter and ventricular
tachycardia may result in a large heart, valve
regurgitation, and even hydrops. Sinus tachycardia may result from anemia, infection, fetal
distress, and [3-mimetic therapy. Irregular
rhythms such as frequent atrial ectopy without
sustained tachycardia may occasionally be associated with an enlarged heart (Weil S R , personal observations, 1992) and carry increased
risk of persistent tachycardia. Salient echocardiographic features are discussed above. Other
irregular rhythms include second degree heart
block and atrial fibrillation with high degree
block. Slow rhythms that may result in cardiac
enlargement include atrial bradycardia, atrioventricular block, and atrial bigeminy with block of
premature beats. Fetal dysrhythmias increase
the likelihood of structural heart disease. Functional heart disease such as myocarditis may
also be a causative factor. Complete atrioventricular block should prompt maternal evaluation
for systemic lupus erythematosis. Fetal dysrhythmia assessment is made by mechanical rather
than electrical diagnosis, and this challenging
process is more thoroughly discussed elsewhere
in this publication.
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Fig 12 (p 295).