Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
复制标题
DOI：
10.1002/ajmg.a.62146
复制
发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Zackai EH
中科院分区：
文献类型：
--
作者：
Matalon DR;Stevenson DA;Bhoj EJ;Santani AB;Keena B;Cohen MS;Lin AE;Sheppard SE;Zackai EH
ras病是一组相似的遗传综合征，伴有心血管异常、特征面部特征、身材矮小、皮肤和肌肉骨骼系统异常以及可变的神经发育挑战。最常见的心血管异常包括肺动脉瓣狭窄和肥厚性心肌病。先天性多瓣病（CPVD）是指两个或多个心脏瓣膜的先天性发育不良。我们在两名CPVD患者中诊断出RASopathy，并注意到在RASopathies中CPVD很少在文献中报道。因此，我们进行了回顾性的图表回顾和文献回顾，以研究与RASopathies的关联和表征CPVD的表型。在我们的RASopathy队列中，2.5% （n = 6/243）的个体存在CPVD。在我们的队列中，大多数人（6/8;75%）累及两个心脏瓣膜，通常是主动脉瓣和肺动脉瓣，但在文献中报道的CPVD和RASopathy病例中只有27%（3/11）。CPVD应被认为是rasopathy的相关心血管表型，这对诊断和管理有影响。
The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.
登录
查看更多内容
影响因子：
3.5
作者：
Bonnet, D;Saygili, A;Kachaner, J
通讯作者：
Kachaner, J
DOI：
10.1016/0735-1097(90)90644-5
发表时间：
1990-03-01
影响因子：
24
作者：
MUSEWE, NN;ALEXANDER, DJ;FREEDOM, RM
通讯作者：
FREEDOM, RM
影响因子：
0.9
作者：
Noonan, Jacqueline A.
通讯作者：
Noonan, Jacqueline A.
DOI：
10.1002/ajmg.1320190310
发表时间：
1984-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
SPRANGER, J;GILBERT, EF;OPITZ, JM
通讯作者：
OPITZ, JM
影响因子：
2
作者：
Legare, Janet M.;Modaff, Peggy;Bartlett, Heather L.
通讯作者：
Bartlett, Heather L.