Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation

Figures

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  Figure 1. Pedigree of the family. Squares represent male relatives; circles represent female relatives; filled symbols indicate HCM patients; slants indicate dead members; arrow represent proband; symbol with dots represent mutation carrier with negative phenotype; ? represent that the subject died before our investigation so that we cannot get clinical data and confirm their phenotype; SCD: Sudden cardiac death: G+: positive genotype; P+: positive phenotype; P−: negative phenotype. IV5 was considered as borderline affected with a maximal LV thickness of 13.2 mm.

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  Figure 2. Cardiac morphologies evaluated by CMR; II1 had sigmoid septum (black arrow of II1-C points to basal septal hypertrophy) without LVOT obstruction; II5 had the neutral septum (II5-C: white arrow)with RV involvement (II5-C: black arrow); II7 had neutral septum(II7-B: black arrow) with no RV involvement; III1 had sigmoid septum with LVOT obstruction (III1-B:black arrow); III2 had sigmoid septum without LVOT obstruction; III6 had sigmoid septum without LVOT obstruction; III7 had reversed curvature of the septum; III9 had reversed curvature of the septum; IV5 had symmetric LV hypertrophy; Black arrows of II1-D, II5-D, II7-D, III1-D, III6-D, III7-D, and III9-D point to LGE in the myocardium.

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  Figure 3. (A) Mutation in MYH7 gene for the proband III1, his other 7 family members with positive phenotype and one borderline affected subject (p.T1377M, c.4130C > T). (B) Mutation in MYH7 gene for other 10 family members of the proband with negative phenotype (p.T1377M, c.4130C > 44T).