title: A clinical, genetic and echocardiographic study of hypertrophic cardiomyopathy in a large family.
abstract: OBJECTIVE
  To confirm recent reports on the incidence of human lymphocyte antigens (HLA) in familial hypertrophic cardiomyopathy and to better define the genetic patterns found in these patients.
  
  
  METHODS
  A large family (31 members, 18M, 13F, age range 6-80 years) with a high incidence of hypertrophic cardiomyopathy was screened for HLA, dermatoglyphic patterns and blood subtyping.
  
  
  RESULTS
  Our finding show variable expression of the disease and reduced penetrance. No linkage between the disease-causing gene and HLA loci could be demonstrated in the family. There was no specific haplotype which present in all affected individuals and missing in all controls. Haplotype A2 B18 was the most commonly encountered in affected individuals but was absent in IV 3 and present in a few controls. No linkage was found between the disease-responsible gene and the blood groups. Finally, no typical pattern emerged from the dermatoglyphic studies.
  
  
  CONCLUSIONS
  The genetic assessment of this family, in agreement with other European studies, showed no clear correlation between hypertrophic cardiomyopathy and blood groups ABO, Rh, Lewis, Duffy and was unable to show atypical or unusual dermatoglyphic patterns.
authors.affiliation: Istituto di Medicina Generale, Università Napoli 1o, Facoltà di Medicina e Chirurgia, Italy.
authors.forename: F
authors.initials: F
authors.lastname: D'Onofrio
authors.forename: N
authors.initials: N
authors.lastname: Passariello
authors.forename: J
authors.initials: J
authors.lastname: Sepe
authors.forename: S
authors.initials: S
authors.lastname: Gentile
authors.forename: F
authors.initials: F
authors.lastname: Cacciapuoti
authors.forename: M
authors.initials: M
authors.lastname: Stabile
authors.forename: E
authors.initials: E
authors.lastname: Pace
authors.forename: G
authors.initials: G
authors.lastname: Del Covillo
authors.forename: C
authors.initials: C
authors.lastname: Vacca
authors.forename: V
authors.initials: V
authors.lastname: Ventruto
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D004452:Echocardiography; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged
chemical_list: D006680:HLA Antigens