Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy–causing mutations in the β-myosin heavy chain, α- tropomyosin, and myosin-binding protein C genes  Tuija Poutanen, MD, Tero Tikanoja, MD, Pertti Jääskeläinen, MD, Eero Jokinen, MD, Annuli Silvast, MSc, Markku Laakso, MD, Johanna Kuusisto, MD  American Heart Journal  Volume 151, Issue 3, Pages 725.e1-725.e9 (March 2006) DOI: 10.1016/j.ahj.2005.12.005 Copyright © 2006 Mosby, Inc. Terms and Conditions

Figure 1 The maximal septum thickness on 2DE in children from HCM families. Genetically affected children and unaffected children are marked with different marks. The dashed lines represent the 95th and 5th percentile values of 2DE septum thickness in 168 healthy children and young adults adjusted for BSA (0.1 m2 groups, 6−21 subjects per group, mean age of subjects 11.1 [SD 5.1] years, range 2.1-27 years). American Heart Journal 2006 151, 725.e1-725.e9DOI: (10.1016/j.ahj.2005.12.005) Copyright © 2006 Mosby, Inc. Terms and Conditions

Figure 2 A, IVRT values in children with disease-causing mutations (G+) and genetically unaffected (G−) and matched control children. The dashed line represents +2SD value of the control children. B, SD scores of 3DE LA maximum volume of G+, G−, and control children. The dashed line represents +2SD scores. C, NT-proANP values in genetically affected, genetically unaffected (G−), and control children. The dashed line represents the NT-proANP 90th percentile value (0.19 nmol/L) in the control group. The dotted line represents the detection limit of the method (0.1 nmol/L). MYH7, The Arg719Trp mutation of the β-myosin heavy chain gene; TPM1, the Asp175Asn mutation of the α-tropomyosin gene; MYBPC3 Gln1061X, the Gln1061X mutation of the myosin-binding protein C gene (MYBPC3); MYBPC3 IVS5-2A→C, the IVS5-2A→C mutation of the MYBPC3 gene. American Heart Journal 2006 151, 725.e1-725.e9DOI: (10.1016/j.ahj.2005.12.005) Copyright © 2006 Mosby, Inc. Terms and Conditions

Figure 3 A, Reconstruction of LA and LV maximum volumes in a 3.5-year-old child with the Arg719Trp mutation of the β-myosin heavy chain gene by 3DE. B, Averaged LA and LV time-volume curves during the heart cycle in genetically affected (G+) children (n = 27) and control children (upper panel) and in genetically unaffected (G−) children (n = 26) and control children (lower panel). The darker lines represent the children from HCM families (G+ or G−) and the lighter lines represent the matched control children. American Heart Journal 2006 151, 725.e1-725.e9DOI: (10.1016/j.ahj.2005.12.005) Copyright © 2006 Mosby, Inc. Terms and Conditions