title: Combined cardiohepatic transplantation due to severe heterozygous familiar hypercholesteremia type II: first case in Argentina--a case report.
abstract: Heterozygous familial hypercholesteremia type II is a recessive autonomic disease with a population incidence <or=1:500. It develops as a consequence of a mutation in the LDLR gene. Patients suffer extremely high LDL and VLDL cholesterol values, dying from coronary compromise at early ages. As cholesterol synthesis is an hepatic process, and as there is a lack of gene therapy, hepatic transplantation is the only therapeutic option in cases refractory to medical treatment. In this report, we have described the first case of combined cardiohepatic transplantation in Argentina, which was performed in a male patient with severe aortic stenosis and terminal ischemic cardiopathy secondary to severe familial hypercholesteremia type II.
authors: Heart Transplantation Unit, Argerich Hospital, Buenos Aires, Argentina. marianoahualli@hotmail.com
authors: L
authors: L
authors: Ahualli
authors: A
authors: A
authors: Stewart-Harris
authors: G
authors: G
authors: Bastianelli
authors: D
authors: D
authors: Radlovachki
authors: A
authors: A
authors: Bartolomé
authors: P L
authors: PL
authors: Trigo
authors: N
authors: N
authors: Cejas
authors: G
authors: G
authors: Aballay Soteras
authors: F
authors: F
authors: Duek
authors: J
authors: J
authors: Lendoire
authors: O
authors: O
authors: Imventarza
authors: C
authors: C
authors: Parisi
authors: S
authors: S
authors: Belforte
authors: E
authors: E
authors: Maiolo
authors: C
authors: C
authors: Castro
authors: D
authors: D
authors: Merino
authors: V
authors: V
authors: Picone
mesh_terms: D000328:Adult; D001022:Aortic Valve Insufficiency / Q000601:surgery; D001118:Argentina; D017023:Coronary Angiography; D004452:Echocardiography; D016027:Heart Transplantation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000000981:diagnostic imaging / Q000601:surgery*; D008055:Lipids / Q000097:blood; D016031:Liver Transplantation; D008297:Male; D016896:Treatment Outcome
chemical_list: D008055:Lipids