Abstract
Family history of premature coronary artery disease or myocardial infarction is often sought during the initial clinical encounter, but a definitive genetic diagnosis is rarely made. We review potential monogenic causes of coronary artery disease and explore the clinical genetics that might initiate molecular testing or specialist referral. Coronary artery disease (CAD) and myocardial infarction (MI) are often viewed as prototypical complex genetic disorders. However, when the presentation occurs early in life or when the disease appears to segregate in families, it may be related to one of several Mendelian disorders with CAD or MI as part of the phenotypic expression. The most useful evaluation tool at present is a definitive, carefully curated family history focused on the identification of the limited number of testable genetic causes while avoiding additional testing for conditions with low pretest probability. Here we review the potential genetic causes to consider when assessing a patient with premature MI or CAD and outline recommendations for genetic testing or consideration of referral to a center specializing in cardiovascular genetics. A 35-year-old man presents with crescendo angina culminating in rest pain with ECG changes in the precordial leads and associated biomarker abnormalities. He has no past medical history and has no risk factors for vascular or metabolic disease. His most recent fasting lipid panel was completely normal. An initial family history is notable for “heart” problems in his mother’s side of the family. At coronary angiography he is found to have a 95% stenosis of his proximal left anterior descending artery which is successfully treated by percutaneous coronary intervention including a drug-eluting stent. A subsequent detailed family history with objective confirmation reveals that his mother presented with an acute left anterior descending syndrome at the age of 42 and two of her male siblings underwent coronary revascularization before …
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