Figure 5.
Pedigree for Clinical Case 1 (Box 1). Standard pedigree nomenclature is used. Abbreviations used: d. 70: died in his/her 70s, in addition, the cause of death may be specified—MI, myocardial infarction, cancer, etc.; CABG 60, coronary artery bypass graft in his/her 60s; HL 20, hyperlipidemia of unknown type, diagnosed in his/her 20s; and HL 2, hyperlipidemia of unknown type diagnosed at age 2. For the patients who have undergone mutation testing, the LDLR mutation status is indicated; c.564G>T/+ indicates heterozygosity for the mutation.
