P441Rigid body rotation patterns related with gene mutations in pediatric noncompaction cardiomyopathy

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Purpose: Correlate genotype and phenotype by 2D speckle tracking echocardiography (2DSTE) in a cohort of pediatric noncompaction cardiomyopathy(NCC) investigated for sarcomeric gene mutations. Description of patterns of left ventricular (LV) rotation, such as rigid body rotation (RBR) and its correlation with gene mutation.Methods: Children from a cardiomyopathy cohort study (MyEstela) with NCC diagnosed by echo and MRI criteria are included. All have a test for sarcomeric genes and an optimal basal and apex short axis 2DSTE (Philips iE33). Basal and apical peak rotation was measured, and LV twist was calculated in degree° (QLab software). RBR rotation was defined when rotation at the basal and apical level were predominantly in the same direction. Two observers X and Y classified the basal and apical curves (from van Dalen, JASE 2011): Pattern 2D: Initial counterclockwise followed by clockwise RBR; and pattern 2A: Clockwise RBR, clockwise basal and apical rotation.Results: 9 patients, 7 females, with a mean age of 7.9 y (from 1 to 14). Genetic test: 4 have a mutation, 3 in the MYH7 gene and 1 in the TPM1 gene; 5 have no mutations. Echo data: EF ranges from 38 to 82%. Mean LV peak apical, basal rotation and twist were -0.88, -2.02 and 1.14° respectively. Complete interobserver agreement in patterns in 7 patients, 5 of which had a RBR. 4 of these 5 have a demonstrated mutation. The 3 patients with a 2D pattern (see figure) have a mutation in MYH7 gene, and the one with a 2A pattern has a TPM1 gene mutation. The patients withouth mutations have mixed patterns among the apex and basal rotation.Conclusions: There seems to be a correlation between sarcomeric gene mutations and the specific RBR pattern by 2DSTE in pediatric NCC. These findings could help us to guide the genetic test.

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