Table 1

Presymptomatic diagnosis in adults

Sex/age (y)FamillyFamily already genotypedGene*Previous major event in the family†Procedure after step 1Result of genetic testingFollow up (FU in months)Adverse psychological effect/FU
*MYH7: beta myosin heavy chain; MYBPC3: cardiac myosin binding protein C.
†At least one premature sudden death or one heart transplantation related to HCM.
‡Second degree relative and procedure stopped because first degree relative had presymptomatic testing and carried no mutation.
1F/28AYes MYH7 YesContinuedMutation29No
2F/26AYes MYH7 YesStopped
3M/33AYes MYH7 YesContinuedMutation26No
4F/27BYes MYH7 YesContinuedNo mutation16Yes
5F/20BYes MYH7 YesContinuedNo mutation14No
6F/54CYes MYH7 NoStopped
7M/48DYes MYBPC3 NoContinuedNo mutation14No
8M/47EYes MYH7 NoContinuedMutation9No
9M/33FYes MYH7 YesContinuedNo mutation8No
10M/66GYes MYBPC3 NoContinuedNo mutation7No
11F/44AYes MYH7 YesStopped
12F/37HYes MYBPC3 YesContinuedMutation6No
13M/20BYes MYH7 YesStopped
14M/34FYes MYH7 YesContinuedNo mutation5No
15F/65IYes MYBPC3 YesContinuedNo mutation5No
16F/64JYes MYBPC3 NoContinuedNo mutation3No
17M/35KYes MYH7 NoStopped
18F/49LYes MYBPC3 NoStopped
19F/39IYes MYBPC3 NoStopped
20M/32MYes MYH7 NoContinuedNo mutation2No
21M/27KYes MYH7 NoContinuedNo mutation3No
22M/30MYes MYH7 NoContinuedMutation3No
23F/30NYes MYBPC3 NoContinuedMutation2Yes
24M/23KYes MYH7 NoContinuedNo mutation3No
25F/21KYes MYH7 NoStopped‡
26F/44KYes MYH7 NoContinuedNo mutation2No
27M/18KYes MYH7 NoStopped‡
28M/64IYes MYBPC3 NoContinuedNo mutation2No
29F/20OYes MYBPC3 NoStopped