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. 2026 Aug 31;2026(4):e202638. doi: 10.21542/gcsp.2026.38
Patient demographics and operative characteristics
Age at transplant 33 years (born 1957; currently 69 years of age)
Sex Female
Date of operation 13 September 1990
Procedure Simultaneous orthotopic cardiac and hepatic transplantation
Primary indication Homozygous familial hypercholesterolaemia (HoFH) with severe ischaemic cardiomyopathy and aortic valve stenosis
Pre-operative LDL-C 13 mmol/L —refractory to all available lipid-lowering pharmacotherapy
Pre-operative total cholesterol 23 mmol/L (pre-treatment); 14.4 mmol/L (on simvastatin + cholestyramine)
Genetic findings Compound heterozygosity at LDL-R locus: large deletion on one allele; missense mutation on second allele producing a receptor with delayed membrane transport and ∼10% of normal LDL-R activity11
Clinical stigmata Diffuse cutaneous and tendon xanthomata; bilateral carotid bruits; severe diffuse coronary artery disease; aortic stenosis; LVOT obstruction11