ultrasound diagnosis of fatal anomalies

THE HEART
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tricle, and pulmonary trunk dilation)may be the
first indication. Narrowing of the aortic arch itself
is difficult to demonstrate, as this often appears
secondary to constriction of Botallo’s duct in the
neonatal stage and is less obvious prior to this.
Cross-sectional view of vena cava, aorta and pulmonary
artery (three-vessel view)is the best
method of demonstrating the relative narrowing
of the aorta. In extreme cases, it resembles a hypoplastic
left heart. In mild cases, intrauterine diagnosis
is often very difficult.
Clinical management: Further sonographic
screening. Karyotyping. Ultrasound monitoring
at regular intervals to detect increasing asymmetry
of the ventricles. Vaginal delivery is
possible.
Procedure after birth: The decision on whether
to undertake early therapeutic intervention depends
on the severity of the existing lesion or of
aortic stenosis appearing after the closure of
Botallo’s duct. In severe cases, prostaglandin can
be given as a prophylactic measure (inadequate
liver and kidney perfusion, severe dysfunction of
the left ventricle). Early surgical therapy or balloon
angioplasty is indicated if signs of heart
failure or inadequate perfusion of the periphery
develop. In children without symptoms, the
operation can be delayed until the age of 3–5
years.
Atrioventricular Septal Defect (AV Canal)
Definition: The most frequent form is complete
AV canal, characterized by a large septal defect
involving the atrial as well as the ventricular
septa and the presence of a common atrioventricular
valve. In the case of an incomplete AV
canal, the AV valvular rims are separated and at
least one anomaly of the AV valve is present
(mostly a “cleft anterior mitral leaflet,” combined
with an atrial septal defect of the foramen
primum type and/or an inlet VSD).
Incidence: 3.6 : 10 000; 2% of all congenital cardiac
malformations.
Prognosis: The prognosis is good after successful
surgical treatment. When the lesion is isolated,
the perioperative mortality is below 1%. In the
presence of other anomalies, however, the mortality
rate rises to 5–15%. Recurrence of stenosis
is expected in 15–30% of patients.
References
Beekman RH. Coarctation of the aorta. In: Emmanouilides
GC, Allen HD, Riemenschneider TA, Gutgesell
HP, editors. Moss and Adams heart disease in infants,
children, and adolescents, including the fetus and
young adult. Baltimore: Williams & Wilkins, 1995:
1111–33.
Benacerraf BR, Saltzman DH, Sanders SP. Sonographic
sign suggesting the prenatal diagnosis of coarctation
of the aorta. J Ultrasound Med 1989; 8: 65–9.
Bronshtein M, Zimmer EZ. Early sonographic diagnosis
of fetal small left heart ventricle with a normal proximal
outlet tract: a medical dilemma. Prenat Diagn
1997; 17: 249–53.
Bronshtein M, Zimmer EZ. Sonographic diagnosis of
fetal coarctation of the aorta at 14–16 weeks of gestation.
Ultrasound Obstet Gynecol 1998; 11: 254–7.
Franklin O, Burch M, Manning N, Sleeman K, Gould S,
Archer N. Prenatal diagnosis of coarctation of the
aorta improves survival and reduces morbidity.
Heart 2002; 87: 67–9.
Nomiyama M, Ueda Y, Toyota Y, Kawano H. Fetal aortic
isthmus growth and morphology in late gestation.
Ultrasound Obstet Gynecol 2002; 19: 153–7.
Wenstrom KD, Williamson RA, Hoover WW, Grant
SS. Achondrogenesis type II (Langer–Saldino)in association
with jugular lymphatic obstruction
sequence. Prenat Diagn 1989; 9: 527–32.
Clinical history/genetics: Down syndrome is
confirmed in 50% of cases; in a further 10%, there
is Ivemark syndrome (agenesis of the spleen or
polysplenia). The rate of recurrence is 2.5% if one
sibling is affected and 8% with two affected siblings.
In the case of an affected mother, the recurrence
rate is 6%, and it is 1.5% if the father is
affected.
Associated malformations: Fallot-type pulmonary
stenosis, fibromuscular subaortic stenosis,
coarctation of the aorta; AV valve stenosis;
anomalies of the spleen (Ivemark syndrome).
Hydrops develops only in association with fetal
cardiac arrhythmia.
Associated syndromes: Down syndrome, Ivemark
syndrome.
Ultrasound findings: A combined atrial and
ventricular septal defect in the mid-region of the
AV valve (inlet VSD). The anterior and posterior
AV valves are fused together, or lie much closer together
than is normally expected. Using color
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