Table 3.

Genetic analysis.

NO.	Sex	Age at testing, years	Type of CM	Follow-up outcomes	Gene	Mutation	Variant type	Carrier
1	Boy	0.09	HCM	Survive	MYH7	Glu924Lys	LP	Mother
2	Girl	0.25	HCM	Survive	GAA	Pro424fs	P	Mother
					GAA	Glu888Ter	P	Father
3	Boy	0.33	HCM	Lost	DSP	GIn90Arg	VUS	Mother
					RBM20	Arg102Gln	VUS	Mother
					MYH6	Met1784Val	VUS	Mother
4	Girl	0.75	HCM	Survive	PKP2	Gly537Ala	VUS	Father
5	Boy	6.00	HCM	Death	PTPN11	Pro491Thr	P	None
6	Boy	7.00	HCM	Survive	MYH7	Leu863Pro	LP	None
7	Boy	8.00	HCM	Death	MYH7	Ala254Glu	VUS	None
8	Boy	12.00	HCM	Survive	LAMP2	Splicing	P	None
9	Girl	13.00	HCM	Survive	TNNI3	Arg186Gln	P	None
10	Boy	0.58	HCM	Survive	GAA	Ser601Leu	LP	Mother
					GAA	Trp481Arg	P	Father
11	Boy	13.00	HCM	Survive	MYH7	Arg783His	VUS	Father
12	Boy	6.00	HCM	Survive	MYBPC3	Glu258Lys	P	Mother
13	Boy	13.00	HCM	Survive	MYH7	Met822Va	P	None
14	Boy	0.08	RCM	death	Undetected	/	/	/
15	Boy	0.11	RCM	death	Undetected	/	/	/
16	Girl	5.00	RCM	Death	TNNI3	Arg192His	P	None
					PKP2	Ala749Asp	VUS	None
17	Boy	10.00	RCM	Survive	TNNI3	Arg192Cys	P	None
18	Boy	7.00	RCM	Death	MYH7	Leu863Pro	LP	None
19	Boy	5.00	RP-HCM	Survive	MYH7	Glu855del	LP	None
					BMPR2	Ala935Val)	VUS	None
					FHOD3	Ile1266Val	VUS	None
20	Girl	10.00	RCM	survive	Undetected	/	/	/
21	Girl	10.00	RP-HCM	Death	KCNE3	Thr4Ala	LP	Mother
					VCL	Asp735Asn	VUS	Father
					MYH7	Leu863Pro	LP	None
					TTN	Cys934Trp	VUS	Father
					HCN4	Ala195Val	VUS	Mother
22	Boy	13.00	RP-HCM	Lost	MYH7	Arg783His	VUS	Father
					TNNT2	Arg92Trp	VUS	Mother
					MYL3	Arg94His	VUS	Mother

HCM, hypertrophic cardiomyopathy; RCM, restrictive cardiomyopathy; RP-HCM, hypertrophic cardiomyopathy with restrictive phenotype. BMPR2, bone morphogenetic protein receptor type 2; DSP, desmoplakin; FHOD3, formin homology 2 domain containing 3; GAA, acid alpha-glucosidase; HCN4, hyperpolarization activated cyclic nucleotide gated potassium channel 4 Gene; KCNE3, potassium voltage-gated channel subfamily E regulatory subunit 3; LAMP2, lysosomal associated membrane protein 2; MYBPC3, cardiac myosin binding protein C; MYH6, alpha-myosin heavy chain; MYH7, beta-myosin heavy chain; MYL3, myosin light chain 3; PKP2, plakophilin; PTPN11, protein tyrosine phosphatase non-receptor type 11; RBM20, RNA binding motif protein 20; TNNI3, troponin I3, cardiac type; TNNT2, troponin T2, cardiac type; TTN, titin; VCL, vinculin. P, pathogenic; LP, likely pathogenic; VUS, variant uncertain significance.