ultrasound diagnosis of fatal anomalies

VENTRICULAR SEPTAL DEFECT
References
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Ventricular Septal Defect (VSD)
Definition: Partial absence of the interventricular
septum, either in the muscular part (20%)or
in the membranous part (80%)of the septum.
Incidence: One in 400 births, accounting for
20–30% of total congenital cardiac anomalies.
Sex ratio: M:F=1:1.
Clinical history/genetics: Mostly sporadic. Multifactorial
inheritance; there are recurrence
rates of 3% and 10% in case of one or two affected
siblings, respectively. If the mother has the condition,
the likelihood of the child being affected
is 9.5%, while if the father has it, it is 2.5%.
Teratogens: Alcohol, hydantoin, valproic acid.
Associated malformations: VSD is the most
common associated malformation in complex
heart disease (in about 50% of cases, it is associated
with other cardiac anomalies).
Associated syndromes: Over 100 syndromes
have been described in which VSD is a component.
Chromosomal aberrations are present in
5–10%, more frequently in the membranous
form, rarely in the muscular form of VSD.
Ultrasound findings: A defect in the ventricular
septum is detected, but it is important to demonstrate
it from different angles. In the apical axis
of the four-chamber view, depletion of the septum
may often be detected underneath the
aorta, but this is an artefact. Using color flow
Doppler mapping, it is possible to demonstrate a
shunt over the VSD. This is usually in both directions,
but may even be completely absent. Small
defects are often missed in prenatal diagnosis.
Clinical management: Further sonographic
screening. Karyotyping. Intrauterine complications
are not expected. Vaginal delivery is
possible.
Procedure after birth: There are no obvious
clinical signs immediately after birth. Even
larger lesions may cause first symptoms
4–6 weeks after birth. Surgical correction is carried
out within the first year of life. Pulmonary
hypertension is a feared complication. In certain
cases, pulmonary banding is necessary to prevent
this.
Prognosis: If there are no other malformations,
the prognosis is excellent. In 25–30% of cases,
closure of the defect occurs spontaneously in infancy.
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