title: Hypertrophic or non-compaction cardiomyopathy: a challenging diagnosis.
abstract: We present a rare case of mutation in the cardiac alfa actine (ACTC) gene. This patient showed phenotypic features of both hypertrophic and non-compaction cardiomyopathy. These cases may represent a diagnostic challenge in daily clinical practice.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Cahil
authors.forename: Martin
authors.initials: M
authors.lastname: Penicka
mesh_terms: D000199:Actins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D004452:Echocardiography / Q000379:methods; D005260:Female; D005820:Genetic Testing; D006333:Heart Failure / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: C526913:ACTC1 protein, human; D000199:Actins