death is likely to have been sporadic and the chances of siblings
being affected are low. However, this inference must be tempered
by the realisation that some inherited conditions (including
hypertrophic cardiomyopathy) may be associated with incom-
plete penetrance. Extended pedigree analyses have demonstrated
that occasionally apparently unaffected individuals, termed
“obligate carriers”, carry the mutation. A follow up strategy after
an initial negative evaluation is empirical, and depends on the
age of the person, the level of anxiety and the nature of the
suspected condition.
FFuurrtthheerr rreeaaddiinngg
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Corrado D, Basso C, Schiavon M et al. Screening for hypertrophic
cardiomyopathy in young athletes. N Engl J Med 1998; 333399 : 364–9.