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
相关论文
共 50 条
  • [21] Hypoplastic left heart syndrome
    Jean Anne Connor
    Ravi Thiagarajan
    Orphanet Journal of Rare Diseases, 2
  • [22] HYPOPLASTIC LEFT HEART SYNDROME
    REDMON, JE
    SOLLINGER, R
    JOURNAL OF FAMILY PRACTICE, 1984, 18 (04): : 600 - +
  • [23] Hypoplastic left heart syndrome
    Bardo, DME
    Frankel, DG
    Applegate, KE
    Murphy, DJ
    Saneto, RP
    RADIOGRAPHICS, 2001, 21 (03) : 705 - 717
  • [24] Hypoplastic left heart syndrome
    Bove, EL
    Rosenthal, A
    PROGRESS IN PEDIATRIC CARDIOLOGY, 1996, 5 (01) : 1 - 2
  • [25] Hypoplastic left heart syndrome
    Penkoske, PA
    ANNALS OF THORACIC SURGERY, 1997, 63 (01): : 285 - 286
  • [26] Pentalogy of Cantrell Associated with Hypoplastic Left Heart Syndrome
    D. S. Wheeler
    J. D. St. Louis
    Pediatric Cardiology, 2007, 28 : 311 - 313
  • [27] Pentalogy of cantrell associated with hypoplastic left heart syndrome
    Wheeler, D. S.
    St. Louis, J. D.
    PEDIATRIC CARDIOLOGY, 2007, 28 (04) : 311 - 313
  • [28] Hypoplastic left heart syndrome
    Weinzettel, R.
    Mair, R.
    Tulzer, G.
    Steiner, J.
    MONATSSCHRIFT KINDERHEILKUNDE, 2010, 158 (10) : 930 - 937
  • [29] Hypoplastic left heart syndrome
    Sefa, Kelekci
    Bulent, Yilmaz
    JOURNAL OF OBSTETRICS AND GYNECOLOGY OF INDIA, 2006, 56 (01): : 76 - 78
  • [30] Hypoplastic left heart syndrome
    Richard M. Donner
    Current Treatment Options in Cardiovascular Medicine, 2000, 2 (6) : 469 - 480
12345