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Dilated cardiomyopathy, extensive subendocardial fibrosis and myocardial non-compaction in a patient with sex development disorder: a rare case of myelin regulatory factor-related cardiac-urogenital syndrome.

作者信息

Cai Renhui, Chen Siying, Zhao Xinxiang

机构信息

Department of Radiology, Wuhan Asian Heart Hospital, Wuhan, China.

Department of Radiology, The Second Affiliated Hospital of Kunming Medical University, Kunming, China.

出版信息

Quant Imaging Med Surg. 2025 Aug 1;15(8):7650-7655. doi: 10.21037/qims-2024-2728. Epub 2025 Jul 30.

DOI:10.21037/qims-2024-2728
PMID:40785895
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12332708/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/d30d99b71d1f/qims-15-08-7650-f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/f153c2e4d7c1/qims-15-08-7650-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/5bbaf1755c29/qims-15-08-7650-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/df3e3dbe84df/qims-15-08-7650-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/99c3d794d542/qims-15-08-7650-vid1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/dd1c7b4c5c8d/qims-15-08-7650-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/838dcd27f878/qims-15-08-7650-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/d30d99b71d1f/qims-15-08-7650-f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/f153c2e4d7c1/qims-15-08-7650-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/5bbaf1755c29/qims-15-08-7650-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/df3e3dbe84df/qims-15-08-7650-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/99c3d794d542/qims-15-08-7650-vid1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/dd1c7b4c5c8d/qims-15-08-7650-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/838dcd27f878/qims-15-08-7650-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f901/12332708/d30d99b71d1f/qims-15-08-7650-f6.jpg

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Dilated cardiomyopathy, extensive subendocardial fibrosis and myocardial non-compaction in a patient with sex development disorder: a rare case of myelin regulatory factor-related cardiac-urogenital syndrome.一名性发育障碍患者出现扩张型心肌病、广泛的心内膜下纤维化和心肌致密化不全：一例罕见的髓磷脂调节因子相关心脏-泌尿生殖系统综合征病例
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本文引用的文献

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Systematic Review, Meta-Analysis, and Population Study to Determine the Biologic Sex Ratio in Dilated Cardiomyopathy.确定扩张型心肌病生物学性别比例的系统评价、荟萃分析和人群研究
Circulation. 2025 Feb 18;151(7):442-459. doi: 10.1161/CIRCULATIONAHA.124.070872. Epub 2025 Feb 3.
2
A Rare Case of Precocious Puberty in a Child with a Novel Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.一例罕见的性早熟儿童伴新型基因突变：对性发育障碍（DSD）的影响及文献复习。
Genes (Basel). 2023 Aug 16;14(8):1631. doi: 10.3390/genes14081631.
3
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.
通过下一代测序鉴定髓鞘调节生长因子中的一种新型变体，从而在一名患有46,XY性发育障碍的患者中检测出一种临床隐匿的先天性心脏缺陷。
J Pers Med. 2023 Jul 19;13(7):1158. doi: 10.3390/jpm13071158.
4
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.由于遗传的反复出现的 MYRF 变异导致的不同临床表现和家族内变异性。
Am J Med Genet A. 2022 Jul;188(7):2187-2191. doi: 10.1002/ajmg.a.62744. Epub 2022 Apr 1.
5
Diagnostic Role of Cardiovascular Magnetic Resonance Imaging in Dilated Cardiomyopathy.心血管磁共振成像在扩张型心肌病中的诊断作用
Indian J Radiol Imaging. 2021 Jan;31(1):116-123. doi: 10.1055/s-0041-1730133. Epub 2021 May 31.
6
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.MYRF 部分单体型不足相关表型谱的综述
Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8.
7
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.先天性膈疝中的从头变异确定 MYRF 为一种新综合征，并揭示与其他发育障碍的遗传重叠。
PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.
8
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().另一名患有髓鞘调节因子（MYRF）新发变异且伴有心脏和泌尿生殖系统异常的个体：因果关系的进一步证据：对Pinz等人（）文章的评论
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De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.髓鞘调节因子（MYRF）中的新生变异作为心脏和泌尿生殖系统异常新综合征的候选因素。
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