Key result
Familial hypercholesterolemia in an 18-year-old male resulted in severe aortic stenosis (mean gradient 92 mmHg), multivessel CAD, and death from refractory heart failure at 6 months without surgery.
Why the study?
Familial hypercholesterolemia is characterized by elevated serum LDL cholesterol and a high prevalence of coronary atherosclerosis, which can present alongside severe aortic stenosis and multiple large tendinous xanthomas in young patients.
Case Report (n=1)
No
Answers are grounded in this paper and cite their sources.
This case report illustrates the rapid, fatal progression of untreated severe familial hypercholesterolemia leading to premature multivessel coronary artery disease and severe calcified aortic stenosis in an 18-year-old patient in a resource-limited setting.
Background: FH is characterized by increased level of serum low-density lipoprotein (LDL) cholesterol with a high prevalence of coronary atherosclerosis. Case Presentation:We herein present a case of a Familial hypercholesterolemia in a 18 years old patient with severe aortic stenosis and coronary artery atherosclerosis.In its antecedent a family history of dyslipidemia, the patient was diagnosed as having familial hypercholesterolemia.He had hypercholesterolemia and presented with multiple large tendinous xanthomas.Transthoracic echocardiogram finds a severe aortic stenosis, Coronary angiography showed severe multivessel coronary artery stenosis with left main coronary artery stenosis and a severe stenosis in the right coronary artery ostium.Genetic test indicates but was unfortunately not performed to identify the gene mutations responsible for the phenotype.The patient was placed on a statin with dietary modification.Replacement of his aortic valve with coronary artery bypass graft surgery was preconized.
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Aw et al. (2020) conducted a case report in Familial hypercholesterolemia with multiple large tendinous xanthomas, severe aortic stenosis, and coronary artery atherosclerosis (n=1). Medical management with rosuvastatin, aspirin, furosemide, and dietary modification (recommended aortic valve replacement and CABG were not performed) was evaluated on Refractory heart failure and mortality at 6 months. Familial hypercholesterolemia in an 18-year-old male resulted in severe aortic stenosis (mean gradient 92 mmHg), multivessel CAD, and death from refractory heart failure at 6 months without surgery.
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