Cargando…

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer. Further clinical reports and studies are needed to identify the association between LVNC and LQTS and the underlying m...

Descripción completa

Detalles Bibliográficos
Autores principales: Sun, Hairui, Liu, Xiaowei, Hao, Xiaoyan, Zhou, Xiaoxue, Wang, Jingyi, Han, Jiancheng, Liang, Mengmeng, Zhang, Hongjia, He, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8908010/
https://www.ncbi.nlm.nih.gov/pubmed/35281812
http://dx.doi.org/10.3389/fgene.2022.821226
_version_ 1784665781852700672
author Sun, Hairui
Liu, Xiaowei
Hao, Xiaoyan
Zhou, Xiaoxue
Wang, Jingyi
Han, Jiancheng
Liang, Mengmeng
Zhang, Hongjia
He, Yihua
author_facet Sun, Hairui
Liu, Xiaowei
Hao, Xiaoyan
Zhou, Xiaoxue
Wang, Jingyi
Han, Jiancheng
Liang, Mengmeng
Zhang, Hongjia
He, Yihua
author_sort Sun, Hairui
collection PubMed
description Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer. Further clinical reports and studies are needed to identify the association between LVNC and LQTS and the underlying mechanism. Methods and Results: A 26-year-old primigravida was referred at 25 weeks gestation for prenatal echocardiography due to fetal bradycardia detected during the routine ultrasound examination. The echocardiographic findings were consistent with biventricular noncompaction cardiomyopathy (BVNC) with pulmonary stenosis and suspected LQTS. After detailed counseling, the couple decided to terminate the pregnancy, and subsequent postmortem examination confirmed BVNC and pulmonary stenosis. Then, A trio (fetus and the parents) whole-exome sequencing (WES) and copy number variation sequencing (CNV-seq) were performed. CNV-seq identified no aneuploidy or pathogenic CNV. A de novo missense variant in KCNH2 (NM_000238.3:c.1847A > G,p.Tyr616Cys) was identified by WES. This KCNH2 missense mutation was classified as pathogenic according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines. Conclusion: We report the first prenatal case of KCNH2 mutation presenting with LVNC combined with bradycardia and second-degree 2:1 atrioventricular block. Importantly, this case reminds clinicians to systematically search ion channel gene mutations in patients with LVNC and arrhythmia.
format Online
Article
Text
id pubmed-8908010
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-89080102022-03-11 Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation Sun, Hairui Liu, Xiaowei Hao, Xiaoyan Zhou, Xiaoxue Wang, Jingyi Han, Jiancheng Liang, Mengmeng Zhang, Hongjia He, Yihua Front Genet Genetics Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer. Further clinical reports and studies are needed to identify the association between LVNC and LQTS and the underlying mechanism. Methods and Results: A 26-year-old primigravida was referred at 25 weeks gestation for prenatal echocardiography due to fetal bradycardia detected during the routine ultrasound examination. The echocardiographic findings were consistent with biventricular noncompaction cardiomyopathy (BVNC) with pulmonary stenosis and suspected LQTS. After detailed counseling, the couple decided to terminate the pregnancy, and subsequent postmortem examination confirmed BVNC and pulmonary stenosis. Then, A trio (fetus and the parents) whole-exome sequencing (WES) and copy number variation sequencing (CNV-seq) were performed. CNV-seq identified no aneuploidy or pathogenic CNV. A de novo missense variant in KCNH2 (NM_000238.3:c.1847A > G,p.Tyr616Cys) was identified by WES. This KCNH2 missense mutation was classified as pathogenic according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines. Conclusion: We report the first prenatal case of KCNH2 mutation presenting with LVNC combined with bradycardia and second-degree 2:1 atrioventricular block. Importantly, this case reminds clinicians to systematically search ion channel gene mutations in patients with LVNC and arrhythmia. Frontiers Media S.A. 2022-02-24 /pmc/articles/PMC8908010/ /pubmed/35281812 http://dx.doi.org/10.3389/fgene.2022.821226 Text en Copyright © 2022 Sun, Liu, Hao, Zhou, Wang, Han, Liang, Zhang and He. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Sun, Hairui
Liu, Xiaowei
Hao, Xiaoyan
Zhou, Xiaoxue
Wang, Jingyi
Han, Jiancheng
Liang, Mengmeng
Zhang, Hongjia
He, Yihua
Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
title Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
title_full Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
title_fullStr Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
title_full_unstemmed Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
title_short Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
title_sort case report: biventricular noncompaction cardiomyopathy with pulmonary stenosis and bradycardia in a fetus with kcnh2 mutation
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8908010/
https://www.ncbi.nlm.nih.gov/pubmed/35281812
http://dx.doi.org/10.3389/fgene.2022.821226
work_keys_str_mv AT sunhairui casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT liuxiaowei casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT haoxiaoyan casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT zhouxiaoxue casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT wangjingyi casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT hanjiancheng casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT liangmengmeng casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT zhanghongjia casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation
AT heyihua casereportbiventricularnoncompactioncardiomyopathywithpulmonarystenosisandbradycardiainafetuswithkcnh2mutation