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Table 1 Clinical and Electrocardiographic Features in Members of SH1190831 Family

From: Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease

Member status Age range(year) Symptoms Clinical ECG diagnosis QRS axis Heart Rate Beats/min Electrocardiography Mutation
RA (mm) RV (mm) LVEF (%)
III.1a,b P 7-11 ASD type III, Thyroglossal Sinus, Mitral Stenosis, Refractive Errors Of The Eye RBBB − 58° 75 29 34 63 WT/p.R1279X
II.2 P 57–61 sinus venosus atrial septal defect (ASD type III) RBBB −65° 88 35 33 59 WT/p.R1279X
II.3 H 36–40 Asymptomatic ND + 42° 93 26 32 67 WT/WT
II.4 H 43–47 Asymptomatic ND + 43° 85 31 30 64 WT/p.R1279X
II.5 H 40–44 Asymptomatic ND + 42° 83 23 28 66 WT/WT
  1. NA Not Detected, ASD Atrial Septal Defect, RBBB Right Bundle Branch Block, P Patient, H Healthy
  2. aWhole exome sequence is applied to this individual
  3. bIndex case