Is a shorter atrioventricular septal length an intermediate phenotype in the spectrum of nonsyndromic atrioventricular septal defects?
Is a shorter atrioventricular septal length an intermediate phenotype in the spectrum of nonsyndromic atrioventricular septal defects?
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DOI：
10.1016/j.echo.2012.03.011
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发表时间：
2012-07
影响因子：
6.5
通讯作者：
Burns, Trudy L.
中科院分区：
文献类型：
--
作者：
Patel, Sonali S.;Mahoney, Larry T.;Burns, Trudy L.
关键词：
房室间隔缺损（AVSD）占所有先天性心血管畸形的7%。房室间隔（AVS）是分隔右心房和左心室的间隔组织的一部分; AVS缺陷导致AVSD表型。对病例和对照家庭进行了研究，以确定是否存在一个中间表型，包括缩短的AVS与AVSD儿童的亲属。通过超声心动图测量了临床未受影响的父母和兄弟姐妹的AVR长度（AVSL），这些父母和兄弟姐妹来自通过患有非综合征性AVSD的儿童和没有先天性心脏病史的家庭。在性别、年龄、体重或身高方面，病例组和对照组家庭成员之间没有显著差异。与对照父母相比，病例父母的AVSL显著缩短。在兄弟姐妹组中观察到类似的发现。在标准化年龄和BSA的AVSL（asAVSL）后，病例父母、病例兄弟姐妹和对照兄弟姐妹组中存在两个分量分布的显著证据。非综合征病例和对照家庭中asAVSL的遗传度分别为0.82和0.71。从病例父母和病例兄弟姐妹的asAVSL分析中得到的两个组分分布的证据表明存在非综合征型AVSD的中间表型。对照家系的高遗传力表明AVSL的决定可能有多基因参与。将AVSD的定义扩大到包括AVSL缩短的患者，可能会增加遗传关联和定位研究的能力，以确定AVSD的易感基因。
Atrioventricular septal defects (AVSD) account for 7% of all congenital cardiovascular malformations. The atrioventricular septum (AVS) is the portion of the septal tissue that separates the right atrium from the left ventricle; deficiency of the AVS contributes to the AVSD phenotype. A study of case and control families was performed to identify whether an intermediate phenotype consisting of a shortened AVS existed in relatives of children with an AVSD. The AVS length (AVSL) was measured in echocardiograms of clinically unaffected parents and siblings from families that were identified through a child with a non-syndromic AVSD and in families with no history of congenital heart disease. No significant differences were seen between case and control family members in terms of gender, age, weight, or height. The AVSL was significantly shorter in case parents when compared to control parents. Similar findings were noted within the sibling groups. There was significant evidence for two component distributions in the case parent, case sibling, and control sibling groups after standardizing the AVSL for age and BSA (asAVSL). Heritability of asAVSL was 0.82 and 0.71 in non-syndromic case and control families, respectively. Evidence for two component distributions from the analysis of asAVSL for case parents and case siblings suggests the presence of an intermediate phenotype for non-syndromic AVSD. The high heritability in the control families suggests that there may be polygenic involvement in the determination of AVSL. Broadening the definition of AVSD to include those with a shortened AVSL may increase the power of genetic association and mapping studies to identify susceptibility genes for AVSD.
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影响因子：
8
作者：
Botto, LD;Correa, A;Erickson, JD
通讯作者：
Erickson, JD
影响因子：
10.8
作者：
Dunlevy, Louisa;Bennett, Mike;Mohun, Timothy
通讯作者：
Mohun, Timothy
DOI：
10.1002/ajmg.1320570325
发表时间：
1995-07-03
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
AMATI, F;MARI, A;DALLAPICCOLA, B
通讯作者：
DALLAPICCOLA, B
影响因子：
3.2
作者：
Kapuku, Gaston K.;Ge, Dongliang;Snieder, Harold
通讯作者：
Snieder, Harold
影响因子：
4.8
作者：
BIELEN, E;FAGARD, R;AMERY, A
通讯作者：
AMERY, A