Familial aggregation of early-onset myocardial infarction

Valentina Cipriani, Pier M. Mannucci, Diego Ardissino, Maurizio Ferrario, Giancarlo Corsini, Piera Angelica Merlini, Francesca Notarangelo, Daniela Lina, Luisa Bernardinelli

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Background: An inherited predisposition is an important factor in the etiology of myocardial infarction (MI) at a young age. However, the extent of the risk for early-onset MI in relatives of young patients is still unclear, due to the paucity of family history data. Hence familial aggregation of early-onset MI was investigated in a cohort of relatives of Italian patients who had survived MI who occurred at the age of 45 or earlier. Methods: In the framework of a case-control study, lifetime data and early-onset MI status for 11,696 relatives of cases and 8897 relatives of controls were collected using a standardized questionnaire. Results: Occurrence of early-onset MI in females was very uncommon (Kaplan-Meier risk = 0.6%, 95% confidence interval (CI): 0.38-0.82%, for female case relatives), and significantly lower than that for male case relatives (5.0%, 95% CI: 4.41-5.56%). The hazard ratio (HR) for case relatives was approximately 3-fold greater than that for control aunts (taken as reference category). Risk for early-onset MI to siblings (HR = 1.7, 95% CI: 1.33-2.18) was significantly different from that to parents (HR = 0.9, 95% CI: 0.71-1.16). The familial risk ratio λR was 2.6 (95% CI: 2.30-2.89) for case relatives, using control parents as reference population for early-onset MI risk estimates (i.e. 37 per 100,000 in fathers and 7 per 100,000 in mothers). Conclusion: We evaluated the risk of early-onset MI by category of relatives, obtaining evidence for familial aggregation of the disease in this Italian sample and providing figures for genetic counselling and planning genetic epidemiological studies.

Original languageEnglish
Pages (from-to)511-515
Number of pages5
JournalEuropean Journal of Internal Medicine
Issue number6
Publication statusPublished - Dec 2010


  • Early-onset myocardial infarction
  • Familial aggregation
  • Family history
  • Genetic susceptibility

ASJC Scopus subject areas

  • Internal Medicine


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