Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Binder, JS; Weidemann, F; Schoser, B; Niemann, M; Machann, W; Beer, M; Plank, G; Schmidt, A; Bisping, E; Poparic, I; Lafer, I; Stojakovic, T; Quasthoff, S; Vincent, JB; Rienmueller, R; Speicher, MR; Berghold, A; Pieske, B; Windpassinger, C.
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet. 2012; 5(5):490-502
Doi: 10.1161/CIRCGENETICS.111.962332
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- Führende Autor*innen der Med Uni Graz
- Binder Josepha Stephanie
- Pieske Burkert Mathias
- Co-Autor*innen der Med Uni Graz
- Beer Meinrad
- Berghold Andrea
- Bisping Egbert Hubertus
- Lafer Ingrid
- Plank Gernot
- Poparic Ivana
- Quasthoff Stefan
- Rienmüller Rainer
- Schmidt Albrecht
- Speicher Michael
- Stojakovic Tatjana
- Windpassinger Christian
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- Abstract:
- X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half LIM domain 1 gene (FHL1). Cardiac involvement was suspected in initial publications. We now systematically analyzed the association of the FHL1 genotype with the cardiac phenotype to establish a potential cardiac involvement in the disease. Seventeen male patients and 23 female mutation carriers were compared with healthy controls. Every patient underwent a comprehensive clinical and cardiovascular workup. ECG abnormalities occurred frequently in affected males and were less frequent in heterozygous females. Both male and female mutation carriers had increased myocardial mass (affected males=115.1±25.3 g/m(2); heterozygous females=95.1±19.6 g/m(2); controls=89.0±15.6 g/m(2) and 72.6±12.6 g/m(2); respectively) with increased wall thickness (typically midventricular and apical segments) mainly in affected males. Longitudinal systolic function was reduced in affected males (radial systolic strain: affected males=24.6±11.8%; male controls=43.2±14.8%; P=0.002). Diastolic dysfunction occurred in both affected males and heterozygous females. Cardiac MRI revealed a morphological hallmark of X-linked myopathy with postural muscle atrophy; a characteristic spongious structure and replacement fibrosis indicated by late enhancement could be detected in most affected males. X-linked myopathy with postural muscle atrophy was associated with reduced exercise capacity in affected males but not in heterozygous female mutation carriers. X-linked myopathy with postural muscle atrophy patients consistently showed electrical, functional, and characteristic morphological cardiac abnormalities that translate into reduced exercise capacity. Reduced systolic and diastolic function is associated with a novel type of spongious hypertrophic cardiomyopathy. An unexpected finding was that some cardiac abnormalities were also present in heterozygous female mutation carriers.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Aged -
- Amino Acid Sequence -
- Blood Pressure - physiology
- Cardiomyopathy, Hypertrophic - genetics
- Cardiomyopathy, Hypertrophic - physiopathology
- Electrocardiography -
- Female -
- Genes, X-Linked -
- Genotype -
- Heterozygote -
- Humans -
- Intracellular Signaling Peptides and Proteins - chemistry
- Intracellular Signaling Peptides and Proteins - genetics
- LIM Domain Proteins - chemistry
- LIM Domain Proteins - genetics
- Magnetic Resonance Imaging -
- Male -
- Middle Aged -
- Molecular Sequence Data -
- Muscle Proteins - chemistry
- Muscle Proteins - genetics
- Muscular Dystrophy, Emery-Dreifuss - physiopathology
- Mutation -
- Protein Isoforms - chemistry
- Protein Isoforms - genetics
- Ventricular Function -
- Find related publications in this database (Keywords)
- hypertrophic cardiomyopathy
- FHL1 mutation
- XMPMA
- strain
- strain rate