title: Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.
abstract: OBJECTIVE
  The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). As prominent trabeculations were described in some carriers, we screened for the E101K mutation in our index patients with HCM, dilated cardiomyopathy (DCM), or left ventricular non-compaction (LVNC).
  
  
  RESULTS
  Clinical, echocardiographic, and genetic screening by restriction fragment length polymorphism of the ACTC E101K mutation in 247 families with HCM, DCM, or LVNC. The mutation was found in five index patients (one with LVNC and four with HCM). Clinical and morphological data were obtained from 94 family members. Forty-six individuals had cardiomyopathy (43 with the mutation and three with no genetic study): 23 fulfilled criteria for LVNC, 22 were diagnosed as apical HCM, and one had been diagnosed as restrictive cardiomyopathy. There had been one heart transplant and one congestive heart failure death in patients with severe diastolic dysfunction, and five premature sudden deaths. The E101K mutation was not found in 48 unaffected relatives. Septal defects (eight atrial and one ventricular) were found in nine mutant carriers from four families, and were absent in relatives without the mutation (P = 0.003).
  
  
  CONCLUSIONS
  LVNC and HCM may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects.
authors.affiliation: Cardiology Department, Complejo Hospitalario Universitario Juan Canalejo, As Xubias 84, A Coruña 15006, Spain. lorenzo_monserrat@canalejo.org
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Monserrat
authors.forename: Manuel
authors.initials: M
authors.lastname: Hermida-Prieto
authors.forename: Xusto
authors.initials: X
authors.lastname: Fernandez
authors.forename: Isabel
authors.initials: I
authors.lastname: Rodríguez
authors.forename: Carlos
authors.initials: C
authors.lastname: Dumont
authors.forename: Laura
authors.initials: L
authors.lastname: Cazón
authors.forename: Margarita G
authors.initials: MG
authors.lastname: Cuesta
authors.forename: Carlos
authors.initials: C
authors.lastname: Gonzalez-Juanatey
authors.forename: Jesús
authors.initials: J
authors.lastname: Peteiro
authors.forename: Nemesio
authors.initials: N
authors.lastname: Alvarez
authors.forename: Manuel
authors.initials: M
authors.lastname: Penas-Lado
authors.forename: Alfonso
authors.initials: A
authors.lastname: Castro-Beiras
mesh_terms: D000199:Actins / Q000235:genetics*; D000328:Adult; D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002313:Cardiomyopathy, Restrictive / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics*; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D000199:Actins