Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report
Abstract Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by the predominance of severe diastolic dysfunction, normal or mildly increased ventricular wall thickness, and either normal or mildly reduced ejection fraction. All known RCM genes are localized on autosomes. In most...
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BMC
2025-07-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-025-05866-4 |
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| author | Tianjiao Wang Weina Zhao Lifang Wu Qinlai Ying Wen Zhu Yiqun Teng Xiaolin Liu |
| author_facet | Tianjiao Wang Weina Zhao Lifang Wu Qinlai Ying Wen Zhu Yiqun Teng Xiaolin Liu |
| author_sort | Tianjiao Wang |
| collection | DOAJ |
| description | Abstract Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by the predominance of severe diastolic dysfunction, normal or mildly increased ventricular wall thickness, and either normal or mildly reduced ejection fraction. All known RCM genes are localized on autosomes. In most cases, the mutations are inherited in an autosomal dominant mode or appear as de novo mutations. The present report describes a case with early-onset RCM and life-threatening arrhythmia, which was inherited in an autosomal recessive manner. The child developed ventricular arrhythmia at one month of age, and a mixed phenotype dominated by restrictive cardiomyopathy with coexistent hypertrophic cardiomyopathy (RCM - HCM) at one year of age. and required hospitalization for anti - heart failure treatment due to heart failure at three years of age. The patient suffered from ventricular fibrillation and cardiac arrest at four years of age, which was rescued by extracorporeal membrane oxygenation and subsequent heart transplantation. Whole genome sequencing of the proband revealed a novel homozygous missense variant (NM_001927.3: c.1243 C > T [p.R415W]) in the Desmin (DES) gene, which was inherited from heterozygous unaffected parents. This case further expands our knowledge of desmin-related cardiomyopathy in children. |
| format | Article |
| id | doaj-art-0e3e3d1a0abd4fe38d49c7d32e6d9c10 |
| institution | Kabale University |
| issn | 1471-2431 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
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| series | BMC Pediatrics |
| spelling | doaj-art-0e3e3d1a0abd4fe38d49c7d32e6d9c102025-08-20T03:42:00ZengBMCBMC Pediatrics1471-24312025-07-012511810.1186/s12887-025-05866-4Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case reportTianjiao Wang0Weina Zhao1Lifang Wu2Qinlai Ying3Wen Zhu4Yiqun Teng5Xiaolin Liu6Department of Pediatrics, The Second Affiliated Hospital of Jiaxing UniversityDepartment of Pediatrics, Zhejiang Chinese Medical UniversityDepartment of Pediatrics, Pinghu Maternal and Child Health CenterDepartment of Pediatrics, The Second Affiliated Hospital of Jiaxing UniversityDepartment of Pediatrics, The Second Affiliated Hospital of Jiaxing UniversityDepartment of Pediatrics, The Second Affiliated Hospital of Jiaxing UniversityDepartment of General Surgery, The Second Affiliated Hospital of Jiaxing UniversityAbstract Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by the predominance of severe diastolic dysfunction, normal or mildly increased ventricular wall thickness, and either normal or mildly reduced ejection fraction. All known RCM genes are localized on autosomes. In most cases, the mutations are inherited in an autosomal dominant mode or appear as de novo mutations. The present report describes a case with early-onset RCM and life-threatening arrhythmia, which was inherited in an autosomal recessive manner. The child developed ventricular arrhythmia at one month of age, and a mixed phenotype dominated by restrictive cardiomyopathy with coexistent hypertrophic cardiomyopathy (RCM - HCM) at one year of age. and required hospitalization for anti - heart failure treatment due to heart failure at three years of age. The patient suffered from ventricular fibrillation and cardiac arrest at four years of age, which was rescued by extracorporeal membrane oxygenation and subsequent heart transplantation. Whole genome sequencing of the proband revealed a novel homozygous missense variant (NM_001927.3: c.1243 C > T [p.R415W]) in the Desmin (DES) gene, which was inherited from heterozygous unaffected parents. This case further expands our knowledge of desmin-related cardiomyopathy in children.https://doi.org/10.1186/s12887-025-05866-4Restrictive cardiomyopathyHypertrophic cardiomyopathyDesminHomozygous mutationCase report |
| spellingShingle | Tianjiao Wang Weina Zhao Lifang Wu Qinlai Ying Wen Zhu Yiqun Teng Xiaolin Liu Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report BMC Pediatrics Restrictive cardiomyopathy Hypertrophic cardiomyopathy Desmin Homozygous mutation Case report |
| title | Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report |
| title_full | Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report |
| title_fullStr | Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report |
| title_full_unstemmed | Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report |
| title_short | Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report |
| title_sort | early onset restrictive cardiomyopathy with life threatening arrhythmia caused by a homozygous desmin mutation a case report |
| topic | Restrictive cardiomyopathy Hypertrophic cardiomyopathy Desmin Homozygous mutation Case report |
| url | https://doi.org/10.1186/s12887-025-05866-4 |
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