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.
journal_name
Kardiol Poljournal_title
Kardiologia polskaauthors
Krzymińska E,Szczerkowska Z,Linom J,Swiatecka G,Pawlak T,Maniszewska B,Luberda Zsubject
Has Abstractpub_date
1993-08-01 00:00:00pages
84-9; discussion 90issue
8eissn
0022-9032issn
1897-4279journal_volume
39pub_type
杂志文章abstract:BACKGROUND:Since flow-mediated dilatation (FMD) is influenced by different factors, its clinical usefulness and validation is widely discussed. AIM:To assess the major factors that determine FMD values in a wide range of subjects with and without cardiovascular (CV) risk factors/diseases (CVRF/CVD). METHODS AND RESUL...
journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2013.0316
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Platelets play a key role in the development and progression of cardiovascular disease. The degree of platelet activation may be assessed by platelet indices such as platelet count, mean platelet volume (MPV) and platelet distribution width (PDW). AIM:To evaluate the relationship between platelet indices an...
journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.2013.0293
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journal_title:Kardiologia polska
pub_type: 杂志文章
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更新日期:2002-12-01 00:00:00
abstract:BACKGROUND:Despite wide popularity of football, there is a paucity of scientific evidence explaining the relationship between being a competitive footballer and life expectancy. AIM:The study analyses and compares cause-specific mortality of Polish male elite footballers and the general Polish male population. METHOD...
journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2018.0173
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Many researchers have studied age- and sex-related differences in the management of patients with coronary artery disease. However, the results are inconsistent. AIM:To assess sex- and age-related bias in the secondary prevention in patients hospitalised due to ischaemic heart disease. METHODS:Five hospita...
journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2013.0148
更新日期:2013-01-01 00:00:00
abstract::Isolated critical ostial stenosis of the left main coronary artery (LMCA) without narrowing in the distal parts of coronary vessels is rather rare cause of angina. It was observed in 7 our patients: 5F and 2M aged 42-55 yrs (mean 47.5). Five of them were in unstable condition. In all of them a direct surgical angiopla...
journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:1992-09-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2015.0039
更新日期:2015-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract::Of adult patients of the Cardiac Defects Clinic, National Institute of Cardiology (in Warsaw) we can distinguish several groups of patients with congenital heart defects among which those who were diagnosed after the age of 18 or those who despite of early and correct diagnosis, not underwent surgery on the childhood ...
journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
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更新日期:2010-09-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2016.0181
更新日期:2017-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
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更新日期:2017-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2017.0035
更新日期:2017-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.2014.0006
更新日期:2014-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章,meta分析,评审
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更新日期:2016-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2015.0216
更新日期:2016-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章,随机对照试验
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更新日期:2013-01-01 00:00:00
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journal_title:Kardiologia polska
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journal_title:Kardiologia polska
pub_type: 临床试验,杂志文章
doi:
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pub_type: 临床试验,杂志文章
doi:
更新日期:2008-05-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:2007-07-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:2005-02-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:2009-06-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:1993-11-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2015.0094
更新日期:2015-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:10.5603/KP.a2017.0100
更新日期:2017-01-01 00:00:00
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journal_title:Kardiologia polska
pub_type: 杂志文章
doi:
更新日期:1990-03-01 00:00:00