Table 2.

Genetic characteristics (n = 524)

Variables	N	Statistics
Paediatric relative with genetic testing
Subject had genetic testing	524	120 (22.9%)
Variant identified	120
No		28 (23.3%)
Pathogenic		86 (71.7%)
Variant of uncertain significance		6 (5.0%)
Affected gene
MYH7	86	27 (31.4%)
MYBPC3	86	43 (50.0%)
PRKAG2 + MYBPC3	86	1 (1.2%)
TPM1	86	8 (9.3%)
TNNI/TNNT	86	3 (3.5%)
MYL2	86	2 (2.4%)
TMPO	86	1 (1.2%)
Unknown/Missing	86	1 (1.2%)
Proband with genetic testing
Variant identified in the proband
Pathogenic		95 (23.5%)
Variant of uncertain significance		30 (7.4%)
Affected gene
Unknown	95	15 (15.8%)
MYH7	95	27 (28.4%)
MYBPC3	95	41 (43.1%)
TNN13	95	5 (5.3%)
TPM1	95	4 (4.2%)
TNNT2	95	2 (2.1%)
PRKAG2	95	1 (1.1%)