Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?

Figures

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  Figure 1. Freedom from hypertrophic cardiomyopathy and major cardiac event (n = 524). (A) Freedom from phenotype-positive hypertrophic cardiomyopathy (95% confidence interval) was 95.9% (93.7–97.3) at 5 years, 91.0% (88.0–93.3) at 10 years, 89.2% (85.9–91.8) at 12 years, and 82.4% (77.9–86.1) at 15 years. (B) Freedom from a major cardiac event was 99.4% (98.2–99.8) at 5 years, 98.4% (96.7–99.2) at 10 years, 97.8% (95.8–98.9), and 95.4% (92.3–97.3) at 15 years. MaCE, major cardiac event.

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  Figure 2. Age distribution of hypertrophic cardiomyopathy onset and major cardiac event (n = 524). (A) Forty-two (52.5%) of the 80 phenotype-positive children became phenotype-positive before 10 years of age. (B) Seven (41%) of 17 children with a major cardiac event experienced it before age 10 years. Pink indicates death or aborted sudden cardiac death events and red indicates implantable cardioverter-defibrillator insertion and myectomy. (C) Major cardiac event by age of onset of hypertrophic cardiomyopathy. There were 21 events in 17 children with more events in those with hypertrophic cardiomyopathy before age 10 years. MaCE, major cardiac event; SCD, sudden cardiac death.

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  Figure 3. Major cardiac event in phenotype-positive children (n = 80). The x-axis shows the time between phenotype-positivity and major cardiac event in years. (A) The cumulative proportion (95% CI) of major cardiac event (A) at 5 years was 26.4% (58.7–83.9) in the overall cohort, and (B) at 10 years was 28.9% (15.9–48.7) in subjects with hypertrophic cardiomyopathy before 10 years of age and 19.1% (8.3–40.6) in subjects with hypertrophic cardiomyopathy after 10 years of age. MaCE, major cardiac event.

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  Figure 4. Freedom from hypertrophic cardiomyopathy stratified by eligibility for early screening. Freedom from hypertrophic cardiomyopathy in those eligible for early screening (red) was 92.8% (88.1–95.7) at 5 years, 84.3% (77.8–89.0) at 10 years, and 82.6% (75.7–87.7) at 12 years. Freedom from clinical hypertrophic cardiomyopathy in the remaining cohort (blue) was 97.8% (95.4–98.9) at 5 years, 94.9% (91.6–96.9) at 10 years, and 93.1% (89.3–95.6) at 12 years.

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  Figure 5. Factors associated with major cardiac event and early onset hypertrophic cardiomyopathy (n = 524). Forest plot of hazard ratios and 95% confidence intervals for multivariable model of freedom from (A) early onset hypertrophic cardiomyopathy and (B) major cardiac event. MaCE, major cardiac event.