Key result
Dual-lumen catheterization detects severe supravalvular aortic stenosis with a ~83 mmHg gradient in cardiogenic shock.
Why the study?
Familial hypercholesterolemia rarely involves supravalvular aortic stenosis, and although standard of care is lipid-lowering therapy, unique cases require surgical management.
Case Report (n=1)
No
This case highlights a rare presentation of supravalvular aortic stenosis secondary to familial hypercholesterolemia complicated by cardiogenic shock, diagnosed via dual-lumen catheterization and managed with mechanical circulatory support.
Background: Familial hypercholesterolemia (FH) rarely involves supravalvular aortic stenosis (SAS). Standard of care is lipid-lowering therapy, however, unique cases require surgery. Case: A 31-year-old female was evaluated for hematemesis. Her history included liver transplantation due to fatty liver disease secondary to FH. Her course was complicated by hypotension and respiratory failure requiring ventilator and vasopressor support. A transthoracic echocardiogram (TTE) demonstrated preserved left ventricle (LV) function and a mean gradient of 58 mmHg across the LV outflow tract which was poorly visualized. Decision-Making: Given the presence of cardiogenic shock and unconfirmed valvular pathology, the decision was made to perform right and left heart catheterization (LHC). A Langston dual lumen multipurpose catheter was used to simultaneously obtain pressures in the LV and aorta, which revealed a mean gradient of 83 mmHg; upon pull-back the area of stenosis was found to be SAS. Conclusions: This case demonstrates a rare cause of SAS secondary to FH complicated by portal hypertension and cardiogenic shock and effective use of an Impella device for mechanical support.
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Upadhyay et al. (2017) conducted a case report in Supravalvular aortic stenosis secondary to familial hypercholesterolemia presenting as cardiogenic shock (n=1). Left and right heart catheterization with Langston dual lumen catheter and Impella mechanical support was evaluated on Mean gradient across the supravalvular aortic stenosis. Dual-lumen catheterization identified severe supravalvular aortic stenosis (mean gradient 83 mmHg) secondary to familial hypercholesterolemia in a 31-year-old female in cardiogenic shock.
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