CARDIOVASCULAR JOURNAL OF AFRICA • Vol 21, No 3, May/June 2010
130
AFRICA
same defect in their
PKP2
gene. Haplotype analysis revealed that,
in all likelihood, these individuals received their defective gene
from a common ancestor (founder effect). The founder effect, as
is the case with the allele dose effect, represents only the second
time that such an effect has been reported in the ARVC litera-
ture. What is more promising, however, is the potential for better
understanding how this specific gene abnormality can cause
a clinically distinct form of ARVC. Since investigators have
identified identical defects in several individuals, they will be
able to study the effects of this particular defect on a large scale.
To conclude, the CASSA-sponsored Registry has made
important contributions to our understanding of ARVC in the
South African context. It shows that ARVC has a high mortality
and affects individuals in the prime of their life. Death is poten-
tially preventable though, if the condition can be diagnosed early
and high-risk individuals are promptly referred for considera-
tion for ICD implantation. Because ARVC runs in families, it is
mandatory to screen the first-degree relatives of affected indi-
viduals. Genetic testing yields an answer in one out of four cases
and is available through the ARVC Registry at the University
of Cape Town. Cardiologists and general physicians alike now
have the chance to work together to improve the diagnosis and
management of patients with ARVC, to reduce the high mortal-
ity rate associated with this condition. The ARVC Registry of
South Africa is in a unique position to facilitate such advances
in patient care, and doctors are encouraged to refer all suspected
or confirmed cases of ARVC to the Registry coordinating centre
for enrollment and evaluation.
NEIL HENDRICKS, DAVID A WATKINS,
BONGANI M MAYOSI,
Department of Medicine, Groote Schuur Hospital and
University of Cape Town, South Africa
Submitted, 4/3/10, accepted 19/3/10
DOI: CVJ-21.020
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South African
Heart Association
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