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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) can be classified into at least four major anatomic subsets based upon the septal contour, and the location and extent of hypertrophy: reverse curvature-, sigmoidal-, apical-, and neutral contour-HCM. Here, we sought to identify genetic determinants for sigmoidal-HCM and hypothesized that Z-disc-HCM may be associated preferentially with a sigmoidal phenotype. Utilizing PCR, DHPLC, and direct DNA sequencing, we performed mutational analysis of five genes encoding cardiomyopathy-associated Z-disc proteins. The study cohort consisted of 239 unrelated patients with HCM previously determined to be negative for mutations in the eight genes associated with myofilament-HCM. Blinded to the Z-disc genotype status, the septal contour was graded qualitatively using standard transthoracic echocardiography. Thirteen of the 239 patients (5.4%) had one of 13 distinct HCM-associated Z-disc mutations involving residues highly conserved across species and absent in 600 reference alleles: LDB3 (6), ACTN2 (3), TCAP (1), CSRP3 (1), and VCL (2). For this subset with Z-disc-associated HCM, the septal contour was sigmoidal in 11 (85%) and apical in 2 (15%). While Z-disc-HCM is uncommon, it is equal in prevalence to thin filament-HCM. In contrast to myofilament-HCM, Z-disc-HCM is associated preferentially with sigmoidal morphology.[1]


  1. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Theis, J.L., Martijn Bos, J., Bartleson, V.B., Will, M.L., Binder, J., Vatta, M., Towbin, J.A., Gersh, B.J., Ommen, S.R., Ackerman, M.J. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
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