Circulation (New York, N.Y.), 2005-09, Vol.112 (11), p.1612-1617
2005
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Details
- Autor(en) / Beteiligte
- Titel
- Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
- Ist Teil von
- Circulation (New York, N.Y.), 2005-09, Vol.112 (11), p.1612-1617
- Ort / Verlag
- Hagerstown, MD: Lippincott Williams & Wilkins
- Erscheinungsjahr
- 2005
- Quelle
- Electronic Journals Library
- Beschreibungen/Notizen
- Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome; mutations in the gene encoding the lysosome-associated protein-2 (LAMP-2) have been identified in these patients, suggesting that some of these patients have Danon disease. In this study we investigated the frequency of LAMP2 mutations in an unselected pediatric HCM population. LAMP2 was amplified from genomic DNA isolated from peripheral lymphocytes of 50 patients diagnosed with HCM and analyzed by direct DNA sequencing. In 2 of the 50 probands (4%), nonsense mutations were identified. In 1 family the proband initially presented with HCM as a teenager, which progressed to dilated cardiomyopathy (DCM) and heart failure. Skeletal myopathy and WPW were also noted. The teenage sister of the proband is a carrier of the same LAMP2 mutation and has HCM without skeletal myopathy or WPW. The other proband presented with HCM, WPW, and skeletal myopathy as a teenager, whereas his carrier mother developed DCM during her 40s. Skeletal and cardiac muscle sections revealed the absence of LAMP-2 on immunohistochemical staining. LAMP2 mutations may account for a significant proportion of cases of HCM in children, especially when skeletal myopathy and/or WPW is present, suggesting that Danon disease is an underrecognized entity in the pediatric cardiology community.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0009-7322eISSN: 1524-4539DOI: 10.1161/CIRCULATIONAHA.105.546481Titel-ID: cdi_proquest_miscellaneous_68581280
- Format
- –
- Schlagworte
- Adolescent, Biological and medical sciences, Blood and lymphatic vessels, Cardiology. Vascular system, Cardiomyopathy, Hypertrophic - etiology, Cardiomyopathy, Hypertrophic - genetics, Cardiomyopathy, Hypertrophic - pathology, Child, Child, Preschool, Codon, Nonsense, Cohort Studies, Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous, Female, Fluorescent Antibody Technique, Gene Frequency, Glycogen Storage Disease Type IIb - complications, Glycogen Storage Disease Type IIb - genetics, Humans, Infant, Infant, Newborn, Lysosomal Membrane Proteins - genetics, Lysosomal Membrane Proteins - metabolism, Lysosomal-Associated Membrane Protein 2, Male, Medical sciences, Muscle, Skeletal - metabolism, Muscle, Skeletal - pathology, Muscular Diseases - etiology, Myocardium - metabolism, Neuropharmacology, Papillary Muscles - pathology, Pharmacology. Drug treatments, Psychoanaleptics: cns stimulant, antidepressant agent, nootropic agent, mood stabilizer..., (alzheimer disease), Psychology. Psychoanalysis. Psychiatry, Psychopharmacology, Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis, Wolff-Parkinson-White Syndrome - etiology