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...
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| Format: | Article |
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Frontiers Media S.A.
2022-02-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.821226/full |
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| author | Hairui Sun Xiaowei Liu Xiaoyan Hao Xiaoxue Zhou Jingyi Wang Jiancheng Han Mengmeng Liang Hongjia Zhang Yihua He |
| author_facet | Hairui Sun Xiaowei Liu Xiaoyan Hao Xiaoxue Zhou Jingyi Wang Jiancheng Han Mengmeng Liang Hongjia Zhang Yihua He |
| author_sort | Hairui Sun |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T11:09:07Z |
| format | Article |
| id | doaj.art-00277a11f99246d2b40d8e416a36de65 |
| institution | Directory Open Access Journal |
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| language | English |
| last_indexed | 2024-12-13T11:09:07Z |
| publishDate | 2022-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-00277a11f99246d2b40d8e416a36de652022-12-21T23:48:48ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-02-011310.3389/fgene.2022.821226821226Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 MutationHairui Sun0Xiaowei Liu1Xiaoyan Hao2Xiaoxue Zhou3Jingyi Wang4Jiancheng Han5Mengmeng Liang6Hongjia Zhang7Yihua He8Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaCipher Gene LLC, Beijing, ChinaDepartment of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, ChinaBackground: 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.https://www.frontiersin.org/articles/10.3389/fgene.2022.821226/fullleft ventricular noncompactionlong QT syndromecongenital heart diseaseprenatal diagnosisKCNH2 gene mutation |
| spellingShingle | Hairui Sun Xiaowei Liu Xiaoyan Hao Xiaoxue Zhou Jingyi Wang Jiancheng Han Mengmeng Liang Hongjia Zhang Yihua He Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation Frontiers in Genetics left ventricular noncompaction long QT syndrome congenital heart disease prenatal diagnosis KCNH2 gene 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 | left ventricular noncompaction long QT syndrome congenital heart disease prenatal diagnosis KCNH2 gene mutation |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.821226/full |
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