title: A pilot study of a family history risk assessment tool for cardiovascular disease.
abstract: This study evaluated the effectiveness of using a family history questionnaire to ascertain patients and families at-risk for inherited cardiovascular disease. A questionnaire composed of 21 questions was developed based on the experience of a cardiovascular genetic counselor. This questionnaire was administered to 39 patients at a University-based cardiology practice reflecting general and specialized aspects of cardiovascular medicine. Using the number and degree of relatedness of relatives reported and limited age of onset information participants were ranked into three familial risk categories. Thirty-nine patients participated in this pilot study. Of the 39 patients, six Mendelian diseases were identified. All individuals surveyed in this study were found to be at high and/or moderate risk for at least one disease based on the family history questionnaire. Twenty-five out of 39 participants (64.1%) were found to be at high risk for at least one cardiovascular disease, and thirty-three out of 39 participants (84.6%) were found to be at moderate risk for at least one disease. A family history of arrhythmia disorders, hypertension, hyperlipidemia, coronary artery disease and diabetes were more likely to be associated with a personal history in family histories of both moderate and high risk. Family history questionnaires in cardiology clinics can be a cost-effective tool for identifying patients and families who are in the greatest need of genetic evaluation and genetic counseling services.
authors.affiliation: Department of Medicine, Section of Cardiology, The University of Chicago, 5841 S. Maryland, MC6088, Chicago, IL 60637, USA. hmacleod22000@yahoo.com
authors.forename: Heather M
authors.initials: HM
authors.lastname: MacLeod
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: McNally
mesh_terms: D000368:Aged; D002318:Cardiovascular Diseases / Q000145:classification / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008487:Medical History Taking; D010865:Pilot Projects; D018570:Risk Assessment / Q000379:methods*; D011795:Surveys and Questionnaires
references.citation: N Engl J Med. 2000 Feb 10;342(6):365-73
references.pmid: 10666426
references.citation: Prim Care. 2005 Dec;32(4):995-1010
references.pmid: 16326224
references.citation: Europace. 2001 Jul;3(3):169-76
references.pmid: 11467456
references.citation: Genet Med. 2003 Mar-Apr;5(2):84-91
references.pmid: 12644777
references.citation: Am J Obstet Gynecol. 2001 Nov;185(5):1032-4
references.pmid: 11717627
references.citation: Genet Med. 2006 Aug;8(8):491-501
references.pmid: 16912580
references.citation: Circulation. 2005 Jul 12;112(2):207-13
references.pmid: 15998675
references.citation: Diabetes Care. 1990 Jul;13(7):796-8
references.pmid: 2387195
references.citation: Genet Med. 2007 Jan;9(1):23-33
references.pmid: 17224687
references.citation: J Clin Oncol. 2002 Jan 15;20(2):528-37
references.pmid: 11786583
references.citation: Am J Med Genet. 1997 Aug 22;71(3):315-24
references.pmid: 9268102
references.citation: J Clin Oncol. 2006 Dec 1;24(34):5395-402
references.pmid: 17088568
references.citation: BMJ. 1993 Dec 11;307(6918):1528-30
references.pmid: 8274922
references.citation: J Mol Med (Berl). 2005 Jan;83(1):79-83
references.pmid: 15551023
references.citation: J Gen Intern Med. 2004 Mar;19(3):273-80
references.pmid: 15009784
references.citation: Ann Intern Med. 1993 Dec 15;119(12):1187-97
references.pmid: 8239250
references.citation: Circulation. 2007 Feb 6;115(5):e69-171
references.pmid: 17194875
references.citation: Am J Med Genet A. 2004 Dec 1;131(2):111-4
references.pmid: 15487010
references.citation: Circulation. 2004 Oct 12;110(15):2150-6
references.pmid: 15466626
references.citation: Am J Cardiol. 2001 Jan 15;87(2):129-35
references.pmid: 11152826