Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases
Abstract Background Restrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP) exhibits a similar clinical presentation to RCM and requires differential diagnosis. While mutations of genes that encode sarcomeric and cytoskelet...
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| Format: | Article |
| Language: | English |
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BMC
2022-05-01
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| Series: | BMC Cardiovascular Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12872-022-02675-w |
| _version_ | 1811254258856624128 |
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| author | Min Zheng Hong Huang Xu Zhu Harvey Ho Liling Li Xiaojuan Ji |
| author_facet | Min Zheng Hong Huang Xu Zhu Harvey Ho Liling Li Xiaojuan Ji |
| author_sort | Min Zheng |
| collection | DOAJ |
| description | Abstract Background Restrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP) exhibits a similar clinical presentation to RCM and requires differential diagnosis. While mutations of genes that encode sarcomeric and cytoskeletal proteins may lead to RCM, infection, rather than gene mutation, is the main cause of CP. Genetic testing may be helpful in the clinical diagnosis of RCM. Methods In this case series study, we screened for TNNI3, TNNT2, and DES gene mutations that are known to be etiologically linked to RCM in four pediatric patients with suspected RCM. Results We identified one novel heterozygous mutation, c.517C>T (substitution, position 517 C → T) (amino acid conversion, p.Leu173Phe), and two already known heterozygous mutations, c.508C>T (substitution, position 508, C → T) (amino acid conversion, p.Arg170Trp) and c.575G>A (substitution, position 575, G → A) (amino acid conversion, p.Arg192His), in the TNNI3 gene in three of the four patients. Conclusion Our findings support the notion that genetic testing may be helpful in the clinical diagnosis of RCM. |
| first_indexed | 2024-04-12T17:04:28Z |
| format | Article |
| id | doaj.art-967576fe81f14137953d4ae88bcd253e |
| institution | Directory Open Access Journal |
| issn | 1471-2261 |
| language | English |
| last_indexed | 2024-04-12T17:04:28Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cardiovascular Disorders |
| spelling | doaj.art-967576fe81f14137953d4ae88bcd253e2022-12-22T03:23:59ZengBMCBMC Cardiovascular Disorders1471-22612022-05-012211810.1186/s12872-022-02675-wClinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy casesMin Zheng0Hong Huang1Xu Zhu2Harvey Ho3Liling Li4Xiaojuan Ji5Children’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and ImmunityPediatric Department, North-Kuanren General Hospital of ChongqingChildren’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and ImmunityAuckland Bioengineering Institute, The University of AucklandChildren’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and ImmunityChildren’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and ImmunityAbstract Background Restrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP) exhibits a similar clinical presentation to RCM and requires differential diagnosis. While mutations of genes that encode sarcomeric and cytoskeletal proteins may lead to RCM, infection, rather than gene mutation, is the main cause of CP. Genetic testing may be helpful in the clinical diagnosis of RCM. Methods In this case series study, we screened for TNNI3, TNNT2, and DES gene mutations that are known to be etiologically linked to RCM in four pediatric patients with suspected RCM. Results We identified one novel heterozygous mutation, c.517C>T (substitution, position 517 C → T) (amino acid conversion, p.Leu173Phe), and two already known heterozygous mutations, c.508C>T (substitution, position 508, C → T) (amino acid conversion, p.Arg170Trp) and c.575G>A (substitution, position 575, G → A) (amino acid conversion, p.Arg192His), in the TNNI3 gene in three of the four patients. Conclusion Our findings support the notion that genetic testing may be helpful in the clinical diagnosis of RCM.https://doi.org/10.1186/s12872-022-02675-wRestrictive cardiomyopathyTNNI3MutationConstrictive pericarditis |
| spellingShingle | Min Zheng Hong Huang Xu Zhu Harvey Ho Liling Li Xiaojuan Ji Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases BMC Cardiovascular Disorders Restrictive cardiomyopathy TNNI3 Mutation Constrictive pericarditis |
| title | Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases |
| title_full | Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases |
| title_fullStr | Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases |
| title_full_unstemmed | Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases |
| title_short | Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases |
| title_sort | clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases |
| topic | Restrictive cardiomyopathy TNNI3 Mutation Constrictive pericarditis |
| url | https://doi.org/10.1186/s12872-022-02675-w |
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