Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7

被引：0
|
作者：
张亚辉
机构：
[1] Capital Med Univ
[2] Beijing Anzhen Hosp
[3] Coronary Artery Dis Center
[4] Dept Acute Coronary Syndrome Ward
来源：
ChinaMedicalAbstracts(InternalMedicine) | 2024年 / 41卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R542.2 [心肌疾病];
学科分类号：
摘要：
Objective To explore the relationship between pathogenic gene,mutation and phenotype of left ventricular noncompaction (LVNC) patients and their family members.Methods The subjects were the proband with LVNC and her family members.The medical history including electrocardiogram,echocardiography and cardiac magnetic resonance examination of the proband and family members was collected.
引用
收藏
页码：38 / 38
页数：1
相关论文
共 50 条
  • [31] Mutations in Sarcomeric Genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in Patients With Hypertrophic Cardiomyopathy
    Garcia-Castro, Monica
    Coto, Eliecer
    Reguero, Julian R.
    Berrazueta, Jose R.
    Alvarez, Victoria
    Alonso, Belen
    Sainz, Rocio
    Martin, Maria
    Moris, Cesar
    REVISTA ESPANOLA DE CARDIOLOGIA, 2009, 62 (01): : 48 - 56
  • [32] A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation
    Sana, Maria Elena
    Quilliam, Lawrence A.
    Spitaleri, Andrea
    Pezzoli, Laura
    Marchetti, Daniela
    Lodrini, Chiara
    Candiago, Elisabetta
    Lincesso, Anna Rita
    Ferrazzi, Paolo
    Iascone, Maria
    PLOS ONE, 2016, 11 (12):
  • [33] A Comprehensive Analysis of MYH7, MYBPC3, TNNT2, and TNNI3 Genes from 10 Families Having Patients with Hypertrophic Cardiomyopathy in Vietnam
    Mai Trung Anh
    EUROPEAN HEART JOURNAL SUPPLEMENTS, 2019, 21 (0F) : F32 - F32
  • [34] Familial Ebstein Anomaly, Left Ventricular Hypertrabeculation, and Ventricular Septal Defect Associated With a MYH7 Mutation
    Bettinelli, Audra L.
    Mulder, Theodorus J.
    Funke, Birgit H.
    Lafferty, Katherine A.
    Longo, Sherri A.
    Niyazov, Dmitriy M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (12) : 3187 - 3190
  • [35] Novel MYH7 Variant in the Neonate of a Mother with Gestational Diabetes Mellitus Showing Left Ventricular Hypertrophy and Noncompaction
    Ozawa, Sayaka W.
    Inomata, Satomi
    Hata, Yukiko
    Takarada, Shinya
    Okabe, Mako
    Nakaoka, Hideyuki
    Ibuki, Keijiro
    Nishida, Naoki
    Ichida, Fukiko
    Hirono, Keiichi
    GENES, 2024, 15 (03)
  • [36] Left ventricular non-compaction cardiomyopathy: restrictive subtype with MYH7 gene mutation
    Oztarhan, Kazim
    Senturk, Beyza
    Ucar, Ozlem
    CARDIOLOGY IN THE YOUNG, 2023, 33 (05) : 810 - 812
  • [37] Prevalence and spectrum of mutations in the sarcomeric MYH7, TNNT2, MYBPC3 and TPM1 genes Spanish cardiac hypertrophy patients
    Castro, M. G. C. Garcia
    Reguero, J. R.
    Alonso-Montes, C.
    Calvo, D.
    Martin, M.
    Coto, E.
    De La Tassa, C. M.
    EUROPEAN HEART JOURNAL, 2006, 27 : 952 - 952
  • [38] Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?
    Farne, Marianna
    Balla, Cristina
    Margutti, Alice
    Selvatici, Rita
    De Raffele, Martina
    Di Domenico, Assunta
    Imbrici, Paola
    De Maria, Elia
    Biffi, Mauro
    Bertini, Matteo
    Rapezzi, Claudio
    Ferlini, Alessandra
    Gualandi, Francesca
    CARDIOGENETICS, 2021, 11 (03) : 139 - 147
  • [39] Low-frequency maternal novel MYH7 mosaicism mutation in recurrent fetal-onset severe left ventricular noncompaction: a case report
    Kawamura, Hiroshi
    Ikawa, Masamichi
    Hirono, Keiichi
    Kimura, Junya
    Okuno, Takashi
    Kawatani, Masao
    Inai, Kunihiro
    Hata, Yukiko
    Nishida, Naoki
    Yoshida, Yoshio
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [40] EARLY FUNCTIONAL STRAIN DIFFERENCES IN PRE-HYPERTROPHIC CARRIERS WITH MUTATIONS IN MYH7 AND MYBPC3 ASSESSED WITH CMR TISSUE TAGGING
    Guclu, Ahmet
    van der Velden, Jolanda
    Brouwer, Wessel P.
    van Rossum, Albert C.
    Germans, Tjeerd
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2013, 61 (10) : E1062 - E1062
12345