18
Treatment
Figure 2. Genetic Testing Process in HCM
HCM Index Case
Targeted Gene Testing
Variant positive Variant negative
Regular follow-up
(See Figure 1, Box 2)
(1)
Further clinical or
genetic testing not
recommended
(See Figure 1, Box 3)
(3: No Benefit)
Reclassified as
LP/P
Disease-causing
LP/P variant
Regular reevaluation for
variant reclassification
(See Figure 1, Box 4)
(1)
HCM indicates hypertrophic cardiomyopathy; LB/B, likely benign/benign; LP/P,
likely pathogenic or pathogenic; and VUS, variant of unknown significance.
Cascade genetic testing
in family
(1)
