Cardiac MRI Characteristics of Noonan Syndrome Associated With Hypertrophic Cardiomyopathy and Congenital Heart Disease

被引：0
|
作者：
Peng, Zhengxuan [1 ]
Ma, Xiaoyan [1 ]
Li, Shibo [1 ]
Liu, Xingguang [2 ]
Zhou, Xing [3 ]
机构：
[1] Gansu Univ Chinese Med, Clin Med Coll 1, Lanzhou, Peoples R China
[2] Gansu Prov Hosp, Dept Cardiovasc Surg, Lanzhou, Peoples R China
[3] Gansu Prov Hosp, Dept Radiol, 204 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China
来源：
KOREAN JOURNAL OF RADIOLOGY | 2025年 / 26卷 / 04期
关键词：
Noonan syndrome; Special facial features; Myocardial hypertrophy; Gene variant;
D O I：
10.3348/kjr.2024.1316
中图分类号：
R8 [特种医学]; R445 [影像诊断学];
学科分类号：
1002 ; 100207 ; 1009 ;
摘要：
引用
收藏
页码：394 / 396
页数：3
相关论文
共 50 条
  • [41] Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome
    Kraoua, Lilia
    Jaouadi, Hager
    Allouche, Mohamed
    Achour, Ahlem
    Kaouther, Hakim
    Ben Ahmed, Habib
    Chaker, Lilia
    Maazoul, Faouzi
    Ouarda, Fatma
    Zaffran, Stephane
    M'rad, Ridha
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (07):
  • [42] Multidetector computed tomography-guided percutaneous transluminal septal myocardial ablation in a Noonan syndrome patient with hypertrophic obstructive cardiomyopathy
    Maekawa, Yuichiro
    Jinzaki, Masahiro
    Tsuruta, Hikaru
    Yamada, Yoshitake
    Kishino, Yoshikazu
    Kawakami, Takashi
    Hayashida, Kentaro
    Yuasa, Shinsuke
    Murata, Mitsushige
    Kawamura, Akio
    Sano, Motoaki
    Kuribayashi, Sachio
    Fukuda, Keiichi
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2014, 172 (01) : E76 - E78
  • [43] Genetic syndromes associated with congenital heart disease
    Duarte, Valeria E.
    Singh, Michael N.
    HEART, 2023, : 1231 - 1237
  • [44] Progressive Left Ventricular Outflow Tract Stenosis in a Noonan Syndrome Patient With Severe Hypertrophic Cardiomyopathy During Growth Hormone Treatment
    Ichikawa, Yasuhiro
    Saito, Naka
    Kurosawa, Kenji
    Hanakawa, Junko
    Ueda, Hideaki
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2022, 14 (04)
  • [45] Genetic Syndromes associated with Congenital Heart Disease
    Ko, Jung Min
    KOREAN CIRCULATION JOURNAL, 2015, 45 (05) : 357 - 361
  • [46] SOS1-Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?
    Cirelli Jr, Michael A.
    Wackel, Philip
    Javed, Rabia
    Gavrilova, Ralitza
    Qureshi, M. Yasir
    Dearani, Joseph A.
    Boucher, Lauren M.
    Niaz, Talha
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (03)
  • [47] Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era
    Kim, Susan Taejung
    Lee, Sang Yun
    Kim, Gi Beom
    Bae, Eun Jung
    Ko, Jung Min
    Song, Mi Kyoung
    JOURNAL OF PEDIATRICS, 2023, 262
  • [48] Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy
    Daoud, Elena
    Zwick, David
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2019, 22 (04) : 386 - 390
  • [49] A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation
    Jaouadi, Hager
    Ben Chehida, Amel
    Kraoua, Lilia
    Etchevers, Heather C.
    Argiro, Laurent
    Kasdallah, Nadia
    Blibech, Sonia
    Delague, Valerie
    Levy, Nicolas
    Tebib, Neji
    Mrad, Ridha
    Abdelhak, Sonia
    Benkhalifa, Rym
    Zaffran, Stephane
    GENETICS RESEARCH, 2019, 101
  • [50] Co-Occurrence of Hypertrophic Cardiomyopathy and Myeloproliferative Disorder in a Neonate with Noonan Syndrome Carrying Thr73Ile Mutation in PTPN11
    Yagasaki, Hideaki
    Nakane, Takaya
    Hasebe, Youhei
    Watanabe, Atsushi
    Kise, Hiroaki
    Toda, Takako
    Koizumi, Keiichi
    Hoshiai, Minako
    Sugita, Kanji
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (12) : 3144 - 3147
12345