Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Theis, JL; Bos, JM; Bartleson, VB; Will, ML; Binder, J; Vatta, M; Towbin, JA; Gersh, BJ; Ommen, SR; Ackerman, MJ.
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
Biochem Biophys Res Commun. 2006; 351(4):896-902
Doi: 10.1016/j.bbrc.2006.10.119
Web of Science
PubMed
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FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Binder Josepha Stephanie
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Alleles -
- Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology Cardiomyopathy, Hypertrophic - ultrasonography
- DNA Mutational Analysis -
- Echocardiography -
- Female -
- Heart Septum - pathology Heart Septum - ultrasonography
- Humans -
- Male -
- Microfilament Proteins - genetics
- Microfilaments - genetics
- Middle Aged -
- Mutation -
- Find related publications in this database (Keywords)
- hypertrophy
- cardiomyopathy
- septum
- echocardiography
- genes
- Z-disc