Background Familial hypercholesterolemia (FH) is a severe autosomal codominant disorder that is characterized by an elevated concentration of low-density lipoprotein cholesterol (LDL-C) and a high prevalence of prematurecoronary heart disease.We report clinical cardiovascular data from one case of homozygous FH in China after a seven-year study.Methods We obtained 50 FH patients with homozygous phenotypes who were admitted to Anzhen Hospital between 2005 and 2007 and selected one patient who was diagnosed with severe hyperlipidemia with early symptoms of cardiovascular disease.After diagnosis of FH, genetic analysis was performed and cholesterol-lowering drugs were administered.Follow-up clinicaldata were collected over seven years.Results Genetic analysis confirmed the diagnosis of compound heterozygous FH.The patient had mutations in exon 2 Q12X, exon 6 N296T, and exon 6 892delA of the LDL-R gene.Although the patients TC and LDL-C concentrations were reduced by 28% and 6%, respectively, with acombination of cholesterol-lowering drugs, both levels remained higher than their target values.Clinical imaging data collected over seven years showed that the left chamber of the patients heart waspersistently dilated with severe mitral insufficiency, myocardial ischemiadue to multiple coronary artery stenoses, and multivessel plaque formation.Conclutions In China, there are approximately 2.6 million potential FH patients.However, FH patients are underdiagnosed and undertreated in China because both doctors and patients lack knowledge of FH.The Chinese FH population will have poor outcomes without treatment, potentially increasing costs for the country.Therefore, we hope our report will encourage the government todevote more attention to this disease.