Figure 3 – L39X Proband Pedigree.
The PLN-L39X proband (arrow) with a history of HCM and atrial fibrillation has an echocardiography-proven HCM-affected mother (deceased, diagonal line), sister, and granddaughter. One daughter of the proband with no evidence of HCM does not host the L39X mutation nor do her two phenotype-negative daughters. The second daughter of the proband, who has yet to develop signs of HCM, hosts the PLN-L39X mutation as does her daughter who is HCM phenotype-positive. Numbers indicate age of family members at time of study. White, no cardiovascular phenotype; gray, HCM; black, HCM and atrial fibrillation; +, PLN-L39X positive; −, wild-type PLN.