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一名14岁男孩的丹侬病：仅表现为心脏型的表型

Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype.

作者信息

Guerra Enrique C, Beutelspacher-Fernandez Kerstin, Silva-Estrada Jorge A, Santa-Ana-Bayona Maria Jose, Martinez-Dominguez Pavel, Agredano-Chavez Cristina P, Pardiño-Vega Miguel Angel, Yanez-Felix Ana Lucia, Yokoyama-Rebollar Emiy, Espinola-Zavaleta Nilda

机构信息

Department of Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.

MD-PhD (PECEM) Program, School of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.

出版信息

JACC Case Rep. 2024 Oct 2;29(19):102603. doi: 10.1016/j.jaccas.2024.102603.

DOI:10.1016/j.jaccas.2024.102603
PMID:39484323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11522808/
Abstract

This paper presents the case of a 14-year-old boy with Danon disease exhibiting exclusive cardiac involvement, initially suspected as hypertrophic cardiomyopathy. Significant deterioration raised suspicion of an alternative etiology. A clinical exome revealed a previously unreported likely pathogenic variant, :c.645_651del (p.LysAsnfs∗25), in hemizygous state, confirming the diagnosis of Danon disease.

摘要

本文介绍了一名14岁患有丹侬病的男孩的病例，该病例最初被怀疑为肥厚型心肌病，心脏是唯一受累器官。病情显著恶化引发了对另一种病因的怀疑。临床外显子组检测发现了一个半合子状态的此前未报道的可能致病变异：c.645_651del（p.LysAsnfs∗25），从而确诊为丹侬病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/f0e24027372c/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/2fcfa36f5b4a/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/38533bac6274/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/8762991ec683/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/11ea9db29756/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/f0e24027372c/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/2fcfa36f5b4a/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/38533bac6274/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/8762991ec683/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/11ea9db29756/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/787b/11522808/f0e24027372c/gr4.jpg

相似文献

1
Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype.一名14岁男孩的丹侬病：仅表现为心脏型的表型
JACC Case Rep. 2024 Oct 2;29(19):102603. doi: 10.1016/j.jaccas.2024.102603.
2
Danon Disease达农病
3
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.遗传检测在早期诊断疑似肥厚型心肌病的 Danon 病中的临床应用：病例报告。
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A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.一种新的严重扩张型心肌病表型，与先前已知在丹农病背景下导致肥厚型心肌病的LAMP2基因突变相关。
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本文引用的文献

1
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.《丹农病患者的鉴别诊断和管理国际共识：美国心脏病学会最新综述》。
J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014.
2
Danon Disease: Entire Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.Danon 病：完全基因缺失伴不典型临床表现——病例报告及文献复习。
Genes (Basel). 2023 Jul 27;14(8):1539. doi: 10.3390/genes14081539.
3
A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.
仅表现为严重心脏症状患者的Danon病诊断病例研究及文献综述
Pharmgenomics Pers Med. 2023 Aug 17;16:767-775. doi: 10.2147/PGPM.S392800. eCollection 2023.
4
Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.肥厚型心肌病的诊断与评估：美国心脏病学会心血管造影与介入学会最新临床综述
J Am Coll Cardiol. 2022 Feb 1;79(4):372-389. doi: 10.1016/j.jacc.2021.12.002.
5
Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies.丹诺病患者心肌应变及其与临床结局的相关性：监测遗传性心肌病进展的模型。
J Am Heart Assoc. 2021 Dec 7;10(23):e022544. doi: 10.1161/JAHA.121.022544. Epub 2021 Nov 30.
6
Danon disease: Gender differences in presentation and outcomes.Danon 病：临床表现和结局的性别差异。
Int J Cardiol. 2019 Jul 1;286:92-98. doi: 10.1016/j.ijcard.2019.01.020. Epub 2019 Feb 16.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine.肥厚型心肌病：现状与未来，融入当代心血管医学。
J Am Coll Cardiol. 2014 Jul 8;64(1):83-99. doi: 10.1016/j.jacc.2014.05.003.
9
Danon disease: focusing on heart.丹-沃综合征：关注心脏。
J Hum Genet. 2012 Jul;57(7):407-10. doi: 10.1038/jhg.2012.72. Epub 2012 Jun 14.
10
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).原发性LAMP-2缺乏导致X连锁空泡性心肌病和肌病（丹侬病）。
Nature. 2000 Aug 24;406(6798):906-10. doi: 10.1038/35022604.