Unstable Angina in a Young Boy - A Case Report
Dr. Priya Muralidharan 1, Dr. Shaju Padman Panattil *2, Dr. V. Chokalingam 3
1,2,3. NMC Specialty Hospital, P.O. Box: 613, P.C: 133, Al Ghoubra, Muscat, Sultanate of Oman.
Corresponding Author: Dr. Shaju Padman Panattil, NMC Specialty Hospital, P.O. Box: 613, P.C: 133, Al Ghoubra, Muscat, Sultanate of Oman.
Copy Right: © 2023, Dr. Shaju Padman Panattil, This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Received Date: May 16, 2023
Published Date: June 01, 2023
Introduction
Familial Hypercholestremia can lead to early onset of ischaemic heart disease. However, Treadmill Test are usually not performed in children with Familial Hypercholestremia. Here we are reporting a young boy with familial hypercholestremia whose symptoms were evaluated by treadmill test.
Case Report
12 year old boy, a child of consanguinous marriage, attended Cardiology OPD with complaints of exertional angina, giddiness, syncope and exertional dyspnoea. He also had multiple swellings over extensor aspect of elbow and knee since 1year. Family history of ischaemic heart disease was present. His brother also had similar swellings.
On examination, he had multiple tuberous xanthomas on his elbow and knee. Arcus juvenilus was present. Clinical examination was otherwise unremarkable. Echocardiogram showed mitral valve prolapse with moderate mitral regurgitation and normal aortic valve. Treadmill test was strongly positive for inducible ischaemia at 4.2 METS. He had typical angina during TMT and the pain was relieved with sublingual nitrate. He also developed ventricular arrythmias during exercise.
His Lipid Profile showed Total Cholesterol: 968mg%, Triglyceride: 129mg%, HDL: 35mg%, LDL: 907mg%, VLDL: 26mg%, PL: 930mg%.
He was adviced admission and Coronary Angiogram. However, due to financial reasons, relatives refused admission and he was discharged on atorvastatin, cholestyramine, Metoprolol nitrate and LMWH. He did not return for review and he expired two weeks later at home.
Discussion
This boy had typical presentation of familial hypercholesterolemia, possibly of homozygous type.
Familial hypercholesterolemia is an autosomal dominant disorder that results from a mutation in the LDL receptor gene and manifests as a diminished uptake of LDL particle by the liver and the tissues. Heterozygotes occur at a frequency of one in 500 and exhibit 50% of normal LDL receptor activity. (5).
Persons with homozygous hypercholesterolemia number approximately one in every one million people. (4).
This is characterized by marked hypercholesterolemia with resultant aggressive coronary heart disease. Even within the category of homozygous disease, a spectrum of LDL receptor activity has been found ranging from no activity to 20% LDL receptor activity. This receptor activity in homozygous disease correlates with the age of onset of angina. (6).
Cardiovascular manifestation of angina and myocardial infarction appear in second decade of life. (7).
There is marked hypercholesterolemia with serum cholesterol levels ranging from 650-1000 mg/dl which are present from birth. Xanthomas can be present at birth and are mostly present at age of 4 years. (5).
Tuberous xanthomas are yellow to deep orange papules erupting over elbows, knees, buttocks and heel. They may coalesce or may be pedunculated. (8).
Histopathological changes seen in the liver and most tissues is an accumulation of fat with evidence of vascular atherosclerosis. (1).
Currently, an HMG CoA reductase inhibitor is the first choice. If the desired LDL levels are not achieved, then a combination of an HMG CoA reductase inhibitor and another or two other medication should be used to achieve the desired LDL levels. (3).
Although gene therapy is a tantalizing glimpse into the future of therapy for familial hypercholesterolemia, in humans, plasma exchange and LDL apheresis have been shown to be effective. (2).
Liver transplantation is another treatment option. If a patient with homozygous familial hypercholesterolemia undergoes a liver transplantation with an organ that has normal LDL receptors, a significant reduction in serum cholesterol will occur despite the patient still having abnormal receptors in other tissues. (5).
In this patient, because of typical presentation of familial hypercholesterolemia, his symptoms were evaluated by a treadmill test, in spite of his young age.
TMT was strongly positive for inducible ischaemia. This case illustrates the importance of thorough evaluation of cardiac symptoms in such patients irrespective of age of the patient.
This child possibly had exercise induced ventricular arrhythmia which may be reason for his syncope.
This boy is the youngest case of positive treadmill test in this institution and possibly one of the youngest such cases in the world.
References
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