Apical hypertrophic cardiomyopathy and left ventricular non-compaction: two faces of the same disease

Apical hypertrophic cardiomyopathy and left ventricular non-compaction: two faces of the same disease

Genetic testing demonstrated a heterozygous mutation from guanine to adenine at nucleotide 2263 of the ACTC gene that causes a change from glutamic acid to lysine at the amino acid 101 of the protein (E101K).

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Bibliographische Detailangaben
Veröffentlicht in:Heart (British Cardiac Society) 2008-10, Vol.94 (10), p.1253-1253
Hauptverfasser: Monserrat, L, Barriales-Villa, R, Hermida-Prieto, M
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Biological and medical sciences
Cardiac arrhythmia
Cardiology. Vascular system
Cardiomyopathy
Cardiomyopathy, Hypertrophic - diagnosis
Cardiomyopathy, Hypertrophic - genetics
Echocardiography
Heart
Heart attacks
Heart failure
Heterozygote
Humans
Magnetic Resonance Angiography
Male
Medical sciences
Mutation
Mutation - genetics
Myocarditis. Cardiomyopathies
Ventricular Dysfunction, Left - diagnosis
Ventricular Dysfunction, Left - genetics
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Beschreibung
Zusammenfassung:Genetic testing demonstrated a heterozygous mutation from guanine to adenine at nucleotide 2263 of the ACTC gene that causes a change from glutamic acid to lysine at the amino acid 101 of the protein (E101K).
ISSN:1355-6037
1468-201X
DOI:10.1136/hrt.2008.154047