Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

Chung, Hyemoon; Kim, Yoonjung; Park, Chul-Hwan; Kim, Jong-Youn; Min, Pil-Ki; Yoon, Young Won; Kim, Tae Hoon; Lee, Byoung Kwon; Hong, Bum-Kee; Rim, Se-Joong; Kwon, Hyuck Moon; Lee, Kyung-A; Choi, Eui-Young

doi:10.1186/s12947-019-0171-1

Cardiovascular Ultrasound

Table 1 Comparison between sarcomere protein gene variant group and non-variant group

From: Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

	Total (n = 211)			Sarcomere protein gene variant group (n = 67)
	Presence of sarcomere protein gene variant group (n = 67)	Absence of sarcomere protein gene variant group (n = 144)	P	Thick filament gene variant group (n = 52)	Thin filament or regulatory gene variant group (n = 15)	P
Age, years	54.8 ± 14.3	61.3 ± 12.8	0.001	55.3 ± 13.0^**	52.9 ± 18.5^*	0.557
Women, n (%)	25 (37)	38 (26)	0.106	23 (44)^*	2 (13)^††	0.029
Hypertension, n (%)	28 (42)	91 (63)	0.004	22 (42)^**	6 (40)^**	0.873
Diabetes, n (%)	12 (18)	27 (19)	0.884	9 (17)	3 (20)	0.811
Body surface area, m²	1.76 ± 0.18	1.78 ± 0.21	0.596	1.74 ± 0.19	1.82 ± 0.13	0.135
FHx of SCD-1st, n (%)	6 (9)	8 (6)	0.356	4 (8)	2 (13)	0.500
Syncope, n (%)	6 (9)	4 (3)	0.049	6 (12)^*	0 (0)^†	0.168
5-year SCD risk, % (n = 123)	2.64 ± 1.51	2.01 ± 1.66	0.040	2.56 ± 1.38	2.88 ± 1.92	0.538
Echocardiography and CMR
ApHCM, n (%)	21 (31)	79 (55)	0.001	13 (25)^**	8 (53)^††	0.037
LVOT PPG (rest), mmHg	9.9 ± 11.6	15.0 ± 23.3	0.041	10.1 ± 12.4	9.5 ± 8.7	0.874
LVOT PPG (Valsalva), mmHg	15.9 ± 19.2	28.2 ± 37.5	0.005	16.7 ± 20.8	12.8 ± 11.0	0.556
Dynamic obstruction, n(%)	13 (19)	36 (25)	0.370	12 (23)	1 (7)	0.157
LVEDV, mL	70.6 ± 28.1	66.5 ± 21.9	0.252	71.1 ± 28.7	68.7 ± 26.6	0.770
LVESV, mL	25.4 ± 12.0	23.1 ± 8.8	0.106	26.1 ± 12.9	23.0 ± 7.9	0.374
LA volume index, mL/m²	41.0 ± 22.0	34.8 ± 15.0	0.042	39.5 ± 19.1	46.1 ± 30.4^*	0.307
MR grade	0.52 ± 0.35	0.47 ± 0.26	0.216	0.51 ± 0.39	0.57 ± 0.18	0.585
LV ejection fraction, %	63.8 ± 7.3	64.9 ± 5.8	0.239	63.0 ± 7.8	66.6 ± 4.5	0.096
s′, cm/s	6.6 ± 1.6	6.8 ± 1.8	0.408	6.6 ± 1.6	6.6 ± 1.9	0.905
E/e′	15.4 ± 6.7	14.6 ± 5.5	0.371	15.2 ± 6.6	16.3 ± 7.2	0.571
Maximal thickness, mm	19.7 ± 3.7	18.6 ± 3.4	0.035	20.1 ± 3.5^**	18.1 ± 4.1^††	0.061
LV mass index by CMR, g/m² (n = 132)	88.0 ± 21.1	84.9 ± 23.9	0.458	83.8 ± 18.3	102.9 ± 24.3^*	0.014
AML lengths
AML-PLX, mm	31.4 ± 4.6	32.5 ± 4.4	0.109	30.8 ± 4.5^*	33.5 ± 4.6	0.046
AML-3CH, mm	28.7 ± 3.9	28.1 ± 3.4	0.230	28.4 ± 3.9	30.0 ± 3.9	0.187
AML-average, mm	30.1 ± 3.9	30.2 ± 3.5	0.848	29.6 ± 3.8	31.9 ± 3.8	0.045
iAML-PLX, mm/m²	18.0 ± 2.8	18.5 ± 2.8	0.222	17.8 ± 2.8	18.4 ± 2.6	0.453
iAML-3CH, mm/m²	16.5 ± 2.4	16.0 ± 2.3	0.164	16.5 ± 2.6	16.5 ± 1.7	0.941
iAML-average, mm/m²	17.2 ± 2.4	17.2 ± 2.3	0.907	17.1 ± 2.5	17.5 ± 1.9	0.599

Thick filament genes include MYH7, MYBPC3, MYH6, and MYL3. *p < 0.05, **p < 0.01 versus absence of sarcomere gene variant group. AML anterior mitral leaflet, PLX parasternal long axis view, 3CH three chamber view, iAML indexed AML, FHx family history, SCD-1st sudden cardiac death of 1st degree relatives, LV left ventricular, LVEDV LV end-diastolic volume, LVESV LV end-systolic volume, LVESWS LV end-systolic wall stress, LA left atrial, LVOT LV outflow tract, PPG peak pressure gradient, MR mitral regurgitation, s’ peak systolic septal mitral annular velocity, E/e’ ratio of early mitral inflow and annular velocity, CMR cardiac magnetic resonance imaging †p < 0.05, ††p < 0.01 versus thick sarcomere gene mutation group

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