Estenosis aórtica severa e hipercolesterolemia familiar

Milagros Mallma Gómez; Josafat Condori Ccallo; David Miranda Noé

doi:10.47487/apcyccv.v2i4.166

Authors

Milagros Mallma Gomez Servicio de Cardiología Clínica, Instituto Nacional Cardiovascular INCOR. Lima, Peru. https://orcid.org/0000-0002-4520-1717
Josafat Condori Ccallo Servicio de Cardiología Clínica, Instituto Nacional Cardiovascular INCOR. Lima, Peru. https://orcid.org/0000-0002-9678-3729
David Miranda Noe Servicio de Cardiología Clínica, Instituto Nacional Cardiovascular INCOR. Lima, Peru. https://orcid.org/0000-0003-4799-2134

DOI:

https://doi.org/10.47487/apcyccv.v2i4.166

Keywords:

Familial hypercholesterolemia, Xanthomatosis, Aortic valve stenosis

Abstract

Homozygous familial hypercholesterolemia (HFH) is a rare and life-threatening disease that can manifest as coronary artery disease or severe aortic stenosis before twenties. We present the case of a male adolescent who was hospitalized with a clinical diagnosis of HFH and severe aortic stenosis. He underwent aortic valve replacement with mechanical prosthesis and aortic annulus enlargement, and two aortocoronary bypasses were implanted due to an intraoperative complication. The patient evolved favourably and was discharged with combination therapy with high-intensity statins and ezetimibe.

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