Krzymińska E, Szczerkowska Z, Linom J, Swiatecka G, Pawlak T, Maniszewska B, Luberda Z
II Kliniki Chorób Serca Akademii Medycznej, Gdańsku.
Kardiol Pol. 1993 Aug;39(8):84-9; discussion 90.
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.
家族性遗传性心室肥厚（HCM）被归类为一种基因决定的疾病（常染色体显性性状），其特征为全身性心室肥厚、特定的心音和超声心动图图像、特征性心电图改变。某些病例会发生猝死。本文呈现了一个十二口之家的临床数据和实验室检查结果，其中三名兄弟（年龄分别为17岁、21岁和25岁）表现出肥厚型心肌病的典型特征。除了HCM症状外，所有兄弟还表现出独特的、特征性的表型：四肢上下部较长、小头畸形以及不同程度的智力发育迟缓。超声心动图和动态心电图监测显示为III型和IV型（根据马龙分类法），伴有复杂的心电图紊乱。在该家族的其他成员中发现了以下变化：母亲（45岁）在其生命的第四个十年时心电图出现室上性和室性心律失常，父亲（44岁）的心电图出现ST段紊乱（“无症状性缺血”）。父亲的兄弟和姐妹存在心律失常，但无HCM的任何临床体征。对母亲及其所有患病儿子的外周血淋巴细胞进行了细胞遗传学分析——核型正常。检测染色体fra（16）存在情况的进一步细胞遗传学研究结果为阴性。对该家族三代中的13名成员进行了HLA抗原分析。确定了I类A、B和C的HLA抗原，结果表明HCM与B12（44）抗原之间存在某种关联。据我们所知，本研究首次描述了一个同时表现出心室肥厚和伴有智力发育迟缓的特定表型的家族。
