CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 9/10, October/November 2013
384
AFRICA
from cyanosis, right-sided heart failure, arrhythmias and sudden
cardiac death, to a completely asymptomatic presentation.
3,4
Neonates might present with cyanosis mainly due to right-
to-left shunting across an atrial septal defect or patent foramen
ovale,
4
as in the second case. The neonatal presentation may be
associated with right heart failure as demonstrated by the two
cases. The ECG may reveal features of right atrial enlargement
as seen in case 2: prolongation of the PR interval, pre-excitation
syndrome, and atrial and ventricular tachyarrhythmias.
3
Chest
roentgenogram may vary from a normal cardiac silhouette to
a globular ‘wall-to-wall’ heart as in case 2, with or without
oligemic lung fields.
3
Medical treatment includes the standard heart failure
medication such as digoxin and diuretics, as was given to the first
patient. In cases with right ventricular outflow tract obstruction
the pulmonary flow may be ductal-dependent, requiring
prostaglandin therapy to maintain adequate oxygenation.
The predictors of death in Ebstein’s anomaly include the
grade of severity at presentation, foetal presentation, and right
ventricular outflow tract obstruction (as evident in case 2).
4
Ebstein’s anomaly is seldom associated with chromosomal
syndromes. It has been reported in a case of Williams-Beuren
syndrome,
10
and seven cases of Down’s syndrome.
5,11-16
These
seven cases and our two cases are summarised in Table 1.
It has been reported that there is a strong association between
tricuspid regurgitation at 11 to 14 weeks’ gestation, Down’s
syndrome and congenital cardiac defects.
17,18
Foetal demise may
occur spontaneously in both Ebstein’s anomaly and Down’s
syndrome. It is possible therefore that a combination of Ebstein’s
anomaly and Down’s syndrome might lead to early foetal demise,
with resultant under-reporting of these cases. Postmortem
examination and early foetal echocardiogram are not widely
performed, such that the true incidence of Ebstein’s anomaly in
these young Down’s syndrome foetuses remains unknown.
TABLE 1. SUMMARY OF KNOWN CASES OF
DOWN’S SYNDROMEWITH EBSTEIN’SANOMALY
Case number
Diagnosis
Presentation
Karyotype
1. Bauk,
et al
.
5
Cardiac
examination
20 years old, syncope
Clinical
diagnosis
2. Johnson,
et al
.
11
Autopsy
Fatal pneumonia
Not specified
3. Venturini,
et al
.
12
Routine cardiac
examination
55 years old,
asymptomatic
Clinical
diagnosis
4. Silvia,
et al
.
13
Foetal echo-
cardiography
After amniocentesis
Clinical
diagnosis
5. Leite,
et al
.
14
Foetal echo-
cardiography
Suspected cardiac defect
(hypoplastic left ventricle)
Not specified
6. Cyrus,
et al
.
15
Cardiac
examination
Dysmorphic 8-month-old
with failure to thrive
+21; 21
7. Upadhyay,
et al
.
16
Cardiac
examination
Newborn with
cardiomegaly
Clinical
diagnosis
8. This article
Postnatal echo-
cardiography
Cyanotic newborn with
respiratory distress
47, XX, +21
9. This article
Foetal echo-
cardiography
Suspected cardiac defect 47, XY, +21
Conclusion
We report on two very rare cases of Ebstein’s anomaly with
Down’s syndrome. It is possible that patients with Ebstein’s
anomaly and Down’s syndrome have extreme endocardial
cushion abnormalities, so that some of them die
in utero
. There
is a need for routine screening for cardiac lesions, followed by
foetal echocardiography for early detection of such abnormalities
so that appropriate therapy can be commenced, as indicated.
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