When boy III-1 (outlined in blue) died suddenly at a football game at the age of 19, his mother II-2, brother and sisters, friends and doctors were confused. An autopsy showed that the young athelete had died from familial hypertrophic cardiomyopathy (HCM), an inherited disease of the heart muscle. On doing the pedigree, the dead boys father II-1 had died of heart failure at an early age as had his aunt II-4 and paternal grandfather I-1. Testing of the family showed that the boy's siblings were unaffected but that his cousin III-5, whose mother II-4 presumably also had the condition, was positive for the gene. This cousin, although still healthy, would need careful medical monitoring of her condition. Hypertrophic cardiomyopathy is inherited as an autosomal dominant and like other autosomal dominant diseases does not skip generations and in this case affects both sexes. As this trait is dominant, we know that if a child has the the disease then at least one parent must also have the gene.

• The Family Health and Heredity Committee
• How Do I Start?
• What Can I Learn?
• Where Can I Learn More?
• Sample Pedigree Chart
• Committees