These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A clinical, genetic and echocardiographic study of hypertrophic cardiomyopathy in a large family.
    Author: D'Onofrio F, Passariello N, Sepe J, Gentile S, Cacciapuoti F, Stabile M, Pace E, Del Covillo G, Vacca C, Ventruto V.
    Journal: Eur J Med; 1993 Apr; 2(4):227-31. PubMed ID: 8261076.
    Abstract:
    OBJECTIVES: 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. CONCLUSION: 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.
    [Abstract] [Full Text] [Related] [New Search]