| 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 |