title: [Hypertrophic cardiomyopathy occurring in the family. Rare coexistence with oligophrenia. Clinical examinations, cytogenetic and HLA system].
abstract: Familial hereditary ventricular hypertrophy (HCM) is classified as a genetically determined disease (autosomal dominant trait) characterized by generalized ventricular hypertrophy, specific heart sounds and echocardiography images, characteristic ECG changes. Sudden death occurs in some cases. Clinical data and laboratory findings in a family of twelve, in which three brothers (aged 17, 21 and 25) displayed typical features of hypertrophic cardiomyopathy, are presented. In addition to the HCM symptoms, all brothers displayed unique, characteristic phenotype: long upper and lower extremities, microcephaly and different in degree mental retardation. Echocardiography and Holter monitoring revealed types III and IV (according to Maron's classification) with complex ECG disturbances. In other members of the family the following changes were found: supra and ventricular arrhythmias appeared in the ECG of the mother (45 years old) in the forth decade of her life and ST disturbances ("silent ischaemia") in the ECG of the father (44 years old). Arrhythmias were present in the father's brother and sister, but without any clinical signs of HCM. Cytogenetic analysis was performed on the peripheral blood lymphocytes derived from the mother and all her sick sons--the karyotypes were normal. Additional cytogenetic studies detecting the presence of chromosome fra (16) were negative. Analyses of the HLA antigens were performed on 13 members of the three generations in the family. The HLA antigens of classes I-A, B and C were identified and results suggest some linkage between HCM and B12 (44) antigen. To our knowledge, the present study provides the first description of a family displaying simultaneously ventricular hypertrophy and a specific phenotype with mental retardation.
authors.affiliation: II Kliniki Chorób Serca Akademii Medycznej, Gdańsku.
authors.forename: E
authors.initials: E
authors.lastname: Krzymińska
authors.forename: Z
authors.initials: Z
authors.lastname: Szczerkowska
authors.forename: J
authors.initials: J
authors.lastname: Linom
authors.forename: G
authors.initials: G
authors.lastname: Swiatecka
authors.forename: T
authors.initials: T
authors.lastname: Pawlak
authors.forename: B
authors.initials: B
authors.lastname: Maniszewska
authors.forename: Z
authors.initials: Z
authors.lastname: Luberda
mesh_terms: D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D004452:Echocardiography; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype
chemical_list: D006680:HLA Antigens
vernacular_title: Kardiomiopatia przerostowa wystepujaca rodzinnie. Rzadkie połaczenie z oligophrneia badania kliniczne, cytogenetyczne oraz układu HLA.