Severe Multivessel Coronary Artery Disease in an Adolescent With Genetic Dyslipidemia

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  Visual Summary. Previously Unrecognized Severe Hypercholesterolemia in an Adolescent man Led to Premature Multivessel Coronary Artery Disease Multimodality cardiac imaging, genetic testing, percutaneous coronary intervention, and intensive lipid-lowering therapy ultimately resulted in successful diagnosis and management of a pathogenic APOE p.(Leu167del)-associated dyslipidemia. APOB = apolipoprotein B; ASCVD = atherosclerotic cardiovascular disease; ECG = electrocardiogram; HeFH = heterozygous familial hypercholesterolemia; LAD = left anterior descending ; LCx = left circumflex; LDL-C = low-density lipoprotein cholesterol; LDLR = low-density lipoprotein receptor; LVEF = left ventricular ejection fraction; MRI = magnetic resonance imaging; PCI = percutaneous coronary intervention; PCSK9 = proprotein convertase subtilisin/kexin type 9; PET = positron emission tomography; RCA = right coronary artery.

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  Figure 1. Stress Cardiac Magnetic Resonance Imaging Demonstrating Subendocardial Perfusion Defects in the Absence of Myocardial Edema or Fibrosis, Consistent With Early Ischemic Changes in Multiple Coronary Territories

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  Figure 2. Stress Electrocardiogram During Rubidium-82 (82Rb) Cardiac Positron Emission Tomography Image Acquisition After Administration of Dipyridamole, Demonstrating Slow Upsloping to Horizontal ST-Depression, With Concurrent Chest Pain Reported by the Patient

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  Figure 3. Stress and Rest 82Rb Cardiac Positron Emission Tomography Myocardial Perfusion Imaging Demonstrating Completely Reversible Perfusion Defects in all 3 Coronary Artery Territories Transient ischemic dilatation is also seen on the stress images. Findings indicate significant ischemia with multivessel obstructive coronary artery disease in this adolescent with heterozygous familial hypercholesterolemia.

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  Figure 4. Quantitative Perfusion Kinetics From 82Rb Cardiac Positron Emission Tomography Demonstrating Severely Reduced Myocardial Flow Reserve (MFR) of 1.16 and Abnormal Stress Perfusion, Consistent With Extensive Ischemia From Multivessel Obstructive Coronary Artery Disease in an Adolescent With Untreated Heterozygous Familial Hypercholesterolemia LAD = left anterior descending; LV = left ventricular; RCA = right coronary artery.

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  Figure 5. Coronary Angiography Demonstrating Severe Multivessel Disease, Including Complete Occlusion of the Circumflex Artery, Severe Proximal Stenosis of the Right Coronary Artery, and Moderate-to-Severe Stenosis of the Left Anterior Descending Artery, Consistent With Advanced Atherosclerotic Coronary Disease in an Adolescent With Untreated Primary Dyslipidemia AM = acute marginal; LAD = left anterior descending; mRCA = mid right coronary artery; RCA = right coronary artery; RV = right ventricle.