PATTERNS OF INHERITANCE IN HYPERTROPHIC CARDIOMYOPATHY - ASSESSMENT BY M-MODE AND TWO-DIMENSIONAL ECHOCARDIOGRAPHY
PATTERNS OF INHERITANCE IN HYPERTROPHIC CARDIOMYOPATHY - ASSESSMENT BY M-MODE AND TWO-DIMENSIONAL ECHOCARDIOGRAPHY
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DOI：
10.1016/0002-9149(84)90643-x
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发表时间：
1984-01-01
影响因子：
2.8
通讯作者：
MULVIHILL, JJ
中科院分区：
文献类型：
--
作者：
MARON, BJ;NICHOLS, PF;MULVIHILL, JJ
为探讨肥厚型心肌病（HC）的遗传方式，对70个HC家系的367名亲属进行了M型及二维超声心动图检查。对单个家族家系的检查表明，HC在39个家系（56%）中是遗传传播的，在31个家系（44%）中可能是散发的。在39个家系中，有30个家系的遗传模式与常染色体显性遗传最一致。一项复杂的数学系谱分析确定，在整个研究组中观察到的遗传传播模式与已知的常染色体显性、常染色体隐性或X连锁遗传模型不一致，也不支持所有家庭的单基因孟德尔传播的统一概念。受HC影响的一级亲属的比例为22%，HC在先证者的父亲中更常见，在后代中最不常见。大约20%的受影响的亲属（53人中的10人）似乎遗传了亚临床形式的HC，其中HC的唯一证据是只能用超声心动图检测到的形态学表达。先证者和受累亲属在HC表达方面存在明显差异。先证者最常表现为功能受限（81%），静息时主动脉下梗阻（53%），特别是弥漫性分布的左心室肥厚（59%）和显著的室间隔增厚（平均23 mm）。与此相反，受累亲属的特点是没有功能限制（72%）和主动脉下梗阻（94%），局部和不寻常的肥大部位（60%），只有适度的间隔增厚（平均17 mm）。具有家族性或散发性HC形式的先证者在其疾病的表型表达（临床或形态学）方面没有差异。没有单一的遗传模式是典型的HC，虽然常染色体显性遗传是最常见的;各种表型表达的发生，似乎有遗传和非遗传原因，这表明HC可能不是一个单一的病因学不同的疾病实体;遗传咨询建议应受到每个家庭中表现出的特定遗传模式的影响。
To determine the mode of inheritance of hypertrophic cardiomyopathy (HC), 367 relatives from 70 familes with HC were studied by M-mode and 2-dimensional echocardiography (2-D echo). Inspection of individual family pedigrees suggested that HC was genetically transmitted in 39 pedigrees (56%) and probably sporadic in 31 (44%). Of the 39 pedigrees with familial occurrence, 30 had patterns of inheritance that were most consistent with autosomal dominant transmission. A complex mathematical pedigree analysis determined that patterns of genetic transmission observed in the overall study group were not consistent with known models of autosomal dominant, autosomal recessive of X-linked inheritance, and did not support a unified concept of single-gene Mendelian transmission for all families. The proportion of 1st-degree relatives affected by HC was 22%, with HC more common in fathers of the proband and least common in offspring. About 20% of the affected relatives (10 of 53) appeared to have inherited a subclinical form of HC, in which the sole evidence of HC was the morphologic expression detectable only with echocardiography. Probands and affected relatives differed distinctly with regard to the expression of HC. Probands most often showed functional limitation (81%), subaortic obstruction at rest (53%), particularly diffuse distribution of left ventricular hypertrophy (59%) and marked septal thickening (mean 23 mm). In contrast, affected relatives were characterized by absence of functional limitation (72%) and subaortic obstruction (94%), localized and unusual sites of hypertrophy (60%) and only modest septal thickening (mean 17 mm). Probands with the familial or sporadic forms of HC did not differ with regard to the phenotypic expression (clinical or morphologic) of their disease. No single mode of inheritance is typical of HC, although autosomal dominant transmission is most common; a variety of phenotypic expressions occur that appear to have genetic as well as nongenetic causes, suggesting that HC may not be a single etiologically distinct disease entity; and genetic counseling recommendations should be influenced by the particular pattern of inheritance demonstrated in each family.