ultrasound diagnosis of fatal anomalies

EBSTEIN ANOMALY
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Ebstein Anomaly
Definition: Displacement of the free parts of the
septal and posterior cusps of the tricuspid valve
in the direction of the apex of the heart, such that
the left atrium appears larger and the left ventricle
smaller.
Incidence: One in 20 000 live births; less than 1%
of congenital cardiac anomalies.
Sex ratio: M:F=1:1.
Clinical history/genetics: Sporadic, multifactorial
inheritance: recurrence rate of 1% if one
sibling and 3% if two siblings are affected.
Teratogens: Lithium.
Associated malformations: Micrognathia, renal
aplasia, megacolon, undescended testes, low-set
ears.
Ultrasound findings: Due to adhesions of the
septal and posterior cusps of the valve to the adjoining
septum and the free wall of the right ventricle,
the tricuspid valve appears to be displaced
towards the cardiac apex. The right atrium is enlarged.
Part of the right ventricle lies within the
atrium. Tricuspid valve incompetence is a concomitant
finding, and in severe cases pulmonary
stenosis is present. From the physiological point
of view, the tricuspid valve lies more apically
than the mitral valve. However, if the tricuspid
valve lies more than 15 mm lower towards the
apex and tricuspid incompetence is diagnosed, it
is more likely to be an Ebstein anomaly. The following
intracardiac anomalies have to be excluded:
VSD, inverted ventricle, Fallot’s tetralogy,
anomalies of the mitral valve, coarctation of
the aorta, atrial septal defect, and anomaly of the
pulmonary vein.
Clinical management: Further ultrasound
screening is necessary. Karyotyping should be
carried out, although chromosomal aberrations
are rare in Ebstein anomaly. For prognostic evaluation,
a pediatric cardiologist should be consulted.
Regular monitoring is advised because of
the risk of tachyarrhythmia (Wolff–Parkinson–
White syndrome)developing during the course
of pregnancy. Cardiac failure may result secondary
to severe tricuspid incompetence. Vaginal
delivery is possible as long as cardiac failure and
hydrops are not diagnosed.
Procedure after birth: This is an anomaly causing
cyanosis. In certain cases, administration of
prostaglandin improves perfusion of the lungs.
Severe cyanosis, decreasing physical performance
and compression of the right lung due to an
enlarged atrium may make surgical intervention
necessary. Cardiac arrhythmia can be treated by
ablation of additional atrioventricular conduction
systems using cardiac catheterization.
Prognosis: This depends on the severity of pulmonary
stenosis. If only the tricuspid valve is involved,
then the prognosis is favorable. In these
cases, cardiac surgery is not necessary. An unfavorable
prognosis is expected if severe pulmonary
stenosis or pulmonary atresia is present.
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