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Familial genetic risk factors in premature cardiovascular disease: a family study

Oguzhan Yucel1, Oguz Karahan, Ali Zorlu

  • 1Departments of Cardiology, Faculty of Medicine of Cumhuriyet University, Sivas, Turkey.

Molecular Biology Reports
|December 29, 2011
PubMed

Insights

Investigating familial cardiovascular disease (CVD) risk factors in a young patient revealed genetic defects. Early detection and family-wide preventive measures can help avoid severe CVD in at-risk relatives.

Area of Science:

  • Cardiology
  • Genetics
  • Preventive Medicine

Background:

  • Cardiovascular disease (CVD) often exhibits familial predisposition, indicating a genetic component.
  • A young patient undergoing coronary artery bypass graft surgery highlights the need to investigate family history for CVD risk factors.

Purpose of the Study:

  • To identify predisposing genetic and physiological risk factors for cardiovascular disease (CVD) within the family of a young patient.
  • To assess the prevalence of CVD and related risk factors in the patient's father, uncle, and brothers.

Main Methods:

  • Performed biochemical tests including lipid profile, glucose, urea, creatinine, and liver enzymes.
  • Conducted complete blood counts and evaluated physiological coagulation inhibitory factors (protein C, protein S, antithrombin III).
  • Assessed prothrombotic genetic risk factors (factor V Leiden, PAI-1, MTHFR, ACE, etc.) and homocysteine levels.

Main Results:

  • Identified significant defects in multiple genetic factors and regulatory systems associated with CVD.
  • Observed various stages of CVD in the patient's brothers (aged 28 and 32).
  • Confirmed early-onset myocardial infarction in the patient's father and uncle.

Conclusions:

  • A specific familial history of CVD risk factors can be identified in young adults.
  • Providing information and implementing preventive strategies for family members can mitigate severe CVD.
  • Early detection of genetic predispositions is crucial for cardiovascular health management in families.

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