A pilot study of a family history risk assessment tool for cardiovascular disease

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Inherited cardiovascular diseases (ICVDs) pose significant health risks.
• Early identification of at-risk individuals is crucial for timely intervention.
• Family history is a key indicator for genetic predispositions to cardiovascular conditions.

Purpose of the Study:

• To evaluate a novel family history questionnaire for identifying patients and families at risk for ICVD.
• To assess the questionnaire's effectiveness in stratifying cardiovascular disease risk.
• To determine the utility of such questionnaires in cardiology settings.

Main Methods:

• A 21-question family history questionnaire was developed by a cardiovascular genetic counselor.
• The questionnaire was administered to 39 patients at a university cardiology practice.
• Participants were categorized into familial risk levels based on reported family history and age of onset.

Main Results:

• Six Mendelian diseases were identified among the 39 participants.
• All participants were found to be at moderate or high risk for at least one cardiovascular disease.
• 64.1% of participants were at high risk, and 84.6% were at moderate risk for cardiovascular disease.
• Specific conditions like arrhythmia, hypertension, hyperlipidemia, coronary artery disease, and diabetes were frequently associated with higher risk categories.

Conclusions:

• Family history questionnaires are a cost-effective tool for identifying patients needing genetic evaluation.
• Implementing these questionnaires in cardiology clinics can improve the ascertainment of at-risk families.
• This approach facilitates targeted genetic counseling and early management of inherited cardiovascular conditions.