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Year : 2021  |  Volume : 22  |  Issue : 4  |  Page : 304-305  

Familial hypercholesterolemia

Department of Cardiology, Apollo Hospitals, Health City, Chinagadili, Visakhapatnam, Andhra Pradesh, India

Date of Submission23-Mar-2021
Date of Acceptance20-Dec-2021
Date of Web Publication11-Feb-2022

Correspondence Address:
Dr. Dibya Kumar Baruah
Department of Cardiology, Apollo Hospitals, Health City, Chinagadili, Visakhapatnam - 530 040, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Baruah DK. Familial hypercholesterolemia. Heart Views 2021;22:304-5

How to cite this URL:
Baruah DK. Familial hypercholesterolemia. Heart Views [serial online] 2021 [cited 2023 Mar 22];22:304-5. Available from: https://www.heartviews.org/text.asp?2021/22/4/304/337545

A 13-year-old boy presented with effort angina, class III (Canadian Cardiovascular Society classification) of 2-month duration. Physical examination revealed multiple xanthomas over his knees, elbows, and buttock [Figure 1] and 3/6 ejection systolic murmur at the base of the heart radiating to both carotids. Laboratory investigations revealed very high serum total cholesterol and low-density lipoprotein cholesterol levels. A similar pattern of lipid profile was observed in both of his parents. Electrocardiography indicated left ventricular hypertrophy. Echocardiography showed good left ventricular function, concentric hypertrophy, and severe supravalvular aortic stenosis (max pressure gradient – 100 mmHg) [Figure 2]. Angiography revealed tubular narrowing of the ascending aorta with pull back gradient of 86 mmHg and 50% diffuse narrowing of the left main coronary artery [Figure 3] and mild right coronary artery disease.
Figure 1: Multiple xanthomas over buttocks (a) and knees (b)

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Figure 2: Echocardiography showing: (a) good opening of the aortic valve (thin arrow), suprvalvular narrowing (thick arrow), and (b) high Doppler velocity across the narrowed segment (*)

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Figure 3: Coronary angiography showing left main disease (arrow) and supravalvular aortic stenosis (star)

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This case illustrates the classic clinical, echocardiography, and angiographic features of this well-known yet rare cause of premature atherosclerosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his/her consent for images and other clinical information to be reported in the journal. The patient understands that his/her name and initials will not be published and due efforts will be made to conceal his/her identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.Baruah: Familial hypercholesterolemia


  [Figure 1], [Figure 2], [Figure 3]


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