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FilenameFormatSizeDescription
cts12116-sup-0001-FigureS1.tif165KFigure S1. Pedigrees of the families “MYH7 p.M982T,” “MYH7 p.R1434C,” “MYBPC3 p.R458H,” “MYBPC3 p.T957S,” and “TNNT2 p.R131W” with familial DCM carrying a sarcomeric gene rare variant. Males and females indicated by squares and circles, respectively. Individuals with DCM and/or who are deceased are indicated by black shading and diagonal lines, respectively. Variant status is indicated by “+” and “-” for mutation carriers and noncarriers, respectively. Five variants (MYH6 p.P830L, p.A1004S, p.E1457K; MYH7 p.R1500W; MYBPC3 p.S217G) occurred in nonfamilial DCM cases.
cts12116-sup-0002-FigureS2.tiff368KFigure S2. Pedigree of 2 families (A and B) with familial DCM carrying the sarcomeric gene rare variant TNNT2 p.R173W. Males and females indicated by squares and circles, respectively. Individuals with DCM and/or who are deceased are indicated by black shading and diagonal lines, respectively. Variant status is indicated by “+” and “−” for mutation carriers and noncarriers, respectively.
cts12116-sup-0003-FigureS3.tif1521KFigure S3. Pedigrees of 7 families with DCM carrying the sarcomeric gene variants TTN (p.N30348fs, p.R17470X, p.E17783X, p.W26632X, p.K27016X, p.R29415X, p.E17715fs). Males and females indicated by squares and circles, respectively. Individuals with DCM and/or who are deceased are indicated by black shading and diagonal lines, respectively. Variant status is indicated by “+” and “−” for mutation carriers and noncarriers, respectively.
cts12116-sup-0004-FigureS4.tiff1249KFigure S4. Comparison of long-term natural history between 26 TTN gene carriers and noncarriers population (133 patients). Follow-up from birth to end-point/last follow-up evaluation. Survival rates (as percentages) are provided at ages 25, 50, and 75 years. D/HTx = death or heart transplant.
cts12116-sup-0005-FigureS5.tiff1802KFigure S5. Comparison of long-term natural history between 52 gene variant carriers and carriers from all the other previous 7 studies on sarcomere genes with similar available prognostic data (92 patients). Follow-up from birth to end-point/last follow-up evaluation. Survival rates (as percentages) are provided at ages 25, 50, and 75 years. D/HTx = death or heart transplant.
cts12116-sup-0006-TableS1.doc74KTable S1. Characteristics of identified rare variants in MYH6, MYH7, MYBPC3, TNNT2, and TTN.
cts12116-sup-0007-TableS2.docx45KTable S2. Phenotype at enrollment and outcome of the sarcomeric genes rare variant carriers.

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