Figure 1
Extended A31P cat colony pedigree. Pedigree representing a family of 74 cats (35 males, 30 females, and 9 cats of unknown sex) derived from single male founder cat heterozygous for the A31P mutation. Squares = males, circles = females, and diamonds = kittens of unknown sex that were either stillborn or died secondary to failure to thrive. Open symbols are wildtype cats, half-filled symbols are heterozygous A31P cats, and filled symbols are homozygous A31P cats. Green symbols are cats of unknown genotype. Forty-four cats were phenotyped via echocardiography for HCM. Red squares indicate HCM-affected cats; HCM affection status was strictly defined as the following: (1) a diastolic LV wall segment ≥ 6 mm identified in at least two separate echocardiographic examinations in the absence of any other systemic or metabolic disease, or (2) a diastolic LV wall segment ≥ 6 mm identified on a single echocardiographic examination in conjunction with a serum NT-proBNP concentration of > 100 pmol/L20 in the absence of any other systemic or metabolic disease. Gray squares indicate cats that were not phenotyped or that have an unknown affected status. Blue symbols are cats that were adopted and were not included in longitudinal phenotyping analyses. Cats without a red or gray square represent those with a confirmed HCM-unaffected phenotype at the time of last echocardiographic evaluation. The pedigree chart is labeled with the unique identification number for each cat (#2011-XX). Age in months at time of first echocardiographic evidence of HCM are listed below unique cat identification numbers. Age (months) at time of last echocardiographic evaluation is reported for cats that did not meet HCM affection status below unique cat identification numbers. HCM: hypertrophic cardiomyopathy; LV: left ventricle; NTproBNP: N-terminal pro-brain natriuretic peptide.
