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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Sara L. Van Driest, BA^*, Vlad C. Vasile, MD^*, Steve R. Ommen, MD, FACC, Melissa L. Will, BS^*, A. Jamil Tajik, MD, FACC^,, Bernard J. Gersh, MD, FACC and Michael J. Ackerman, MD, PhD, FACC^*,,,*

^* Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota
Department of Internal Medicine, Division of Cardiovascular Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota
Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota

View larger version (30K): [in a new window]   Figure 1 Schematic diagram of mutations identified in MYBPC3. Vertical lines represent exons, and mutations identified in this cohort are indicated above their exonic location. *Novel mutation.

View larger version (39K): [in a new window]   Figure 2 Distribution of sarcomeric mutations in patients with hypertrophic cardiomyopathy. The relative frequency of each genotype identified in the cohort of 389 unrelated patients is indicated as n (%). Note that each genotype is exclusive of patients with multiple mutations, who are included only in the "multiple mutations" subgroup.

View larger version (23K): [in a new window]   Figure 3 Age at diagnosis by genotyped subsets. Genotyped hypertrophic cardiomyopathy patients are grouped on the X-axis, and age at diagnosis is indicated on the Y-axis. Error bars = standard deviation. Unless noted, all other pairwise comparisons were not statistically significant. Thick filament = beta-myosin heavy chain and regulatory myosin light chain; thin filament = troponin-T, troponin-I, alpha-tropomyosin, and alpha-actin. *p = 0.003; **p < 0.0001; ***p < 0.05 vs. all other subgroups.

View larger version (19K): [in a new window]   Figure 4 Degree of hypertrophy by genotyped subsets. Genotyped hypertrophic cardiomyopathy patients are grouped on the X-axis, and left ventricular wall thickness (LVWT) is indicated on the Y-axis. Error bars = standard deviation. Unless noted, all other pairwise comparisons were not statistically significant. Thick filament = beta-myosin heavy chain and regulatory myosin light chain; thin filament = troponin-T, troponin-I, alpha-tropomyosin, and alpha-actin. *p = 0.004; **p = 0.03.