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Year : 2020  |  Volume : 4  |  Issue : 2  |  Page : 223-224

Supravalvular Aortic Stenosis with Extensive Atherosclerosis and Fatal Premature Coronary Artery Disease Secondary to Homozygous Familial Hypercholesterolemia – So Early But Too Late!!


1 Department of Cardiology, Yashoda Hospitals, Hyderabad, Telangana, India
2 Department of Radiology, Yashoda Hospitals, Hyderabad, Telangana, India

Date of Submission08-Sep-2019
Date of Acceptance24-Nov-2019
Date of Web Publication19-Aug-2020

Correspondence Address:
Dr. Pankaj Jariwala
Department of Cardiology, Yashoda Hospitals, Somajiguda, Hyderabad - 500 082, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiae.jiae_45_19

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How to cite this article:
Jariwala P, Giragani S. Supravalvular Aortic Stenosis with Extensive Atherosclerosis and Fatal Premature Coronary Artery Disease Secondary to Homozygous Familial Hypercholesterolemia – So Early But Too Late!!. J Indian Acad Echocardiogr Cardiovasc Imaging 2020;4:223-4

How to cite this URL:
Jariwala P, Giragani S. Supravalvular Aortic Stenosis with Extensive Atherosclerosis and Fatal Premature Coronary Artery Disease Secondary to Homozygous Familial Hypercholesterolemia – So Early But Too Late!!. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2020 [cited 2020 Oct 27];4:223-4. Available from: https://www.jiaecho.org/text.asp?2020/4/2/223/292626

Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by various mutations in low-density lipoprotein (LDL) receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with homozygous FH.

A 29-year-old female, the 3rd child of a nonconsanguineous marriage, complained of recent-onset exertional shortness of breath, New York Heart Association Class III. A diagnosis of familial hypercholesterolemia (FH) was made at the age of 22 after the premature death of her two younger brothers. Since then, she was prescribed with 40 mg of rosuvastatin and 10 mg of ezetimibe.

Her blood pressure was 90/60 mmHg and heart rate was 122/min. An ejection systolic murmur (IV/VI) was heard over the right second sternal border. The patient had tendon xanthoma on her feet [Figure 1]a. Electrocardiogram indicated left ventricular hypertrophy with strain pattern [Figure 1]b. Echocardiography demonstrated dense deposition of calcium sparing the aortic valve [Figure 1]d, white arrow] and global hypokinesia of the left ventricle with an ejection fraction of 32% with severe mitral regurgitation [Figure 1]e and [Figure 1]f. Continuous wave Doppler interrogation across the aortic valve measured a peak gradient of 70 mmHg suggestive of severe supravalvular aortic stenosis (SVAS) [Figure 1]g.
Figure 1:(a) Clinical photograph showing tendon xanthoma over the dorsum part of the elbows and lateral parts of the foot. (b) The initial ECG showed left ventricular hypertrophy with strain pattern. (c) The ECG on arrival to emergency room showed a new-onset left bundle branch block suggestive of acute coronary syndrome before undergoing definitive cardiothoracic surgery. (d) Echocardiography revealed dense calcifications of the root of aorta and proximal part of the ascending aorta with sparing of the aortic valve (white arrowhead). (e) Also, four-chamber view with color flow mapping showed severe mitral regurgitation. (f) M-mode echocardiography of left ventricle showed severe left ventricular dysfunction, global hypokinesia, with ejection fraction of 32%. (g) The continuous wave Doppler recorded severe gradient across the aortic valve. (h and i) The CT angiography demonstrated the dense deposits of calcium in the aortic annulus and ascending aorta (solid white arrow and dashed white rectangle). (k) Volume-rendered angiography of coronary arteries showed nonobstructive plaques of the proximal segment of the left anterior descending artery (white dashed circle). (j) Patchy distribution throughout the aorta extending to the iliac artery. (n and o) Aortic root angiography elucidated the tubular narrowing of the ascending aorta above the aortic valve (sinotubular junction) with sparing of the aortic valve , Panel n; white arrow head, RAO caudal view, Panel o. (dashed line, LAO view, Panel n; white arrow head, RAO caudal view, Panel o). (l) Selective angiography of the right brachiocephalic artery showed the complete occlusion of the right common carotid artery (white dashed arrows). (m) The left carotid artery showed severe stenosis of internal carotid artery (white dashed arrow). ECG: Electrocardiogram, CT: Computed tomography, LAO: Left anterior oblique, RAO: Right anterior oblique

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The lipid profile showed low-density lipoprotein (LDL) of 646 mg/dl, triglycerides of 155 mg/dl, and high-density lipoprotein of 33 mg/dl despite anticholesterol therapy. Conventional and computed tomography angiography confirmed the findings of severe calcification in the aortic root and ascending aorta with a pullback gradient of 77 mmHg [Figure 1]h, [Figure 1]i, [Figure 1]n, [Figure 1]o. There were multiple nonobstructive plaques distributed throughout the aorta and a mid-segment of the left anterior descending artery [Figure 1]j, [Figure 1]k. The right common carotid artery was completely occluded [Figure 1]l along with a significant luminal narrowing of the left common carotid artery, which was a conspicuous feature [Figure 1]m.

She underwent carotid angioplasty using a tapered self-expanding stent to the left carotid artery 1 week before the planned cardiac surgery. She died 2 days prior to scheduled cardiac surgery secondary to acute coronary syndrome (new-onset left bundle branch block), leading to cardiogenic shock [Figure 1]c.

Homozygous FH (HoFH) is a rare autosomal dominant disorder caused by mutations of the LDL receptor, and clinicopathologically manifests tendon/skin xanthomas, increased serum LDL levels, and premature coronary artery disease. The onset of symptoms can be seen in childhood usually secondary to the signs and symptoms of SVAS: [1] 41% of HoFH patients had SVAS on the evaluation of the aortic root using magnetic resonance imaging and [2] SVAS should be considered a possible diagnosis in young adults with clinicopathological features suggestive of HoFH.

Acknowledgment

We sincerely thank Mr. Tony and Mr. Naveen Rao for their technical assistance.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Kakuta T, Fujita T, Fukushima S, Kawamoto N, Matsumoto Y, Yamashita K, et al. Two cases of surgical management of supravalvular aortic stenosis in familial hypercholesterolemia. Ann Thorac Surg 2018;105:e171-4.  Back to cited text no. 1
    
2.
Summers RM, Andrasko-Bourgeois J, Feuerstein IM, Hill SC, Jones EC, Busse MK, et al. Evaluation of the aortic root by MRI: Insights from patients with homozygous familial hypercholesterolemia. Circulation 1998;98:509-18.  Back to cited text no. 2
    


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