Key result
Mechanical AVR with root enlargement treats progressive AS in a 19-year-old with HoFH.
Why the study?
Familial homozygous hypercholesterolemia rarely presents with anginal symptoms due to combined supravalvular and valvular aortic stenosis requiring surgical intervention.
Case Report (n=1)
Rare supravalvular aortic stenosis in homozygous FH warrants early screening; leaves open optimal timing and durability of mechanical AVR in adolescents.
Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations ranging from premature ischemic heart disease to aortic root stenosis but rarely presents with anginal symptoms due to supravalvular and valvular aortic stenosis. We report a 19-year-old male patient with familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis that ultimately required aortic root enlargement and aortic valve replacement using a mechanical prosthesis, despite aggressive medical therapy. Surgical importance of this rare condition is highlighted.
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Chowdhury et al. (2019) conducted a case report in Familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis (n=1). Aortic root enlargement and aortic valve replacement using a mechanical prosthesis was evaluated. Aortic root enlargement and mechanical aortic valve replacement were required for a 19-year-old male with familial homozygous hypercholesterolemia and progressive aortic stenosis.
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