Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation Keiichi Hirono, MD, Yukiko.

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Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation Keiichi Hirono, MD, Yukiko Hata, PhD, Keijirou Ibuki, MD, Naoki Yoshimura, MD The Journal of Thoracic and Cardiovascular Surgery Volume 148, Issue 5, Pages e223-e226 (November 2014) DOI: 10.1016/j.jtcvs.2014.08.049 Copyright © 2014 The American Association for Thoracic Surgery Terms and Conditions

Figure 1 Echocardiographic images of case 1 (A and B) and case 2 (C and D). In case 1, apical 4-chamber view shows the characteristic left ventricular myocardium without (A) and with (B) color flow visible in intertrabecular recesses on color Doppler images. In case 2, apical 4-chamber view shows the characteristic left ventricular myocardium without (C) and with (D) color flow visible in intertrabecular recesses on color Doppler images. LA, Left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle. The Journal of Thoracic and Cardiovascular Surgery 2014 148, e223-e226DOI: (10.1016/j.jtcvs.2014.08.049) Copyright © 2014 The American Association for Thoracic Surgery Terms and Conditions

Figure 2 The pedigree of the family with Ebstein's anomaly and LVNC (A) and genetic analysis (B). A, The proband is indicated by the arrow. Solid symbols indicate individuals with Ebstein's anomaly and LVNC; half solid symbols indicate individuals with LVNC; open symbols indicate unaffected individuals. B, Sequence analysis of MYH7 reveals a change of methionine to arginine at position 362 in the proband, his sister, and his father. The variant was considered likely pathogenic because of the following criteria: (1) presence in all affected members of the family; (2) absence from 400 unrelated chromosomes of the control subjects; (3) absence in the public databases, dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP/) and National Heart, Lung, and Blood Institute GO Exome Sequencing Project (http://evs.gs.washington.edu/EVS/); (4) affecting evolutionary conserved residues (nucleotide and amino acid); and (5) predicted deleterious/pathogenic by multiple in silico algorithms (Polyphen2, PANTHER, Align GVGD, SHIFT, and Mutation Taster). No mutations were identified in the TAZ, LMNA/C, MYBPC3, TNNT2, TNNI3, ACTC, and TPM1 genes. LVNC, Left ventricular noncompaction. The Journal of Thoracic and Cardiovascular Surgery 2014 148, e223-e226DOI: (10.1016/j.jtcvs.2014.08.049) Copyright © 2014 The American Association for Thoracic Surgery Terms and Conditions