Noonan syndrome associated with hypoplastic left heart syndrome

被引：1
|
作者：
Lawrence, Kendall M. [1 ]
Burstein, Danielle S. [2 ]
Ahrens-Nicklas, Rebecca [3 ]
Gaynor, J. William [4 ]
Nuri, Muhammad A. [4 ]
机构：
[1] Univ Penn, Div Cardiovasc Surg, Philadelphia, PA 19104 USA
[2] Childrens Hosp Philadelphia, Div Cardiol, 34th St & Civic Ctr Blvd, Philadelphia, PA 19104 USA
[3] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[4] Childrens Hosp Philadelphia, Div Cardiothorac Surg, Philadelphia, PA 19104 USA
来源：
CARDIOLOGY IN THE YOUNG | 2023年 / 33卷 / 04期
关键词：
Noonan syndrome; hypoplastic left heart syndrome; lymphatic disorders;
D O I：
10.1017/S1047951122002529
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype-phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants.
引用
收藏
页码：652 / 654
页数：3
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