Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome
Objective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai Children′s Medical Center, Shanghai Jiao Tong Un...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science)
2024-11-01
|
| Series: | Shanghai Jiaotong Daxue xuebao. Yixue ban |
| Subjects: | |
| Online Access: | https://xuebao.shsmu.edu.cn/article/2024/1674-8115/1674-8115-2024-44-11-1406.shtml |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850054274110717952 |
|---|---|
| author | ZHAN Tianliu YAN Zihang WU Jinjin CHEN Hao CHEN Lijun CHEN Yiwei FU Lijun |
| author_facet | ZHAN Tianliu YAN Zihang WU Jinjin CHEN Hao CHEN Lijun CHEN Yiwei FU Lijun |
| author_sort | ZHAN Tianliu |
| collection | DOAJ |
| description | Objective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, from January 2010 to November 2023, were included. Clinical data (age, birth weight, family history, electrocardiogram, echocardiogram, urine tandem mass spectrometry, complete blood count, blood biochemistry, and genetic test results) were collected to analyze the clinical characteristics, genetic findings, and prognoses of the patients.Results·The study included 18 male patients with BTHS (including 2 monozygotic twins), consisting of one Yi ethnic and 17 Han Chinese patients. The median age at diagnosis was 3.0 (1.0, 5.6) months. Fifteen patients experienced decreased cardiac function at disease onset, with a left ventricular ejection fraction (LVEF) below 50%. Dilated cardiomyopathy (DCM) was observed in 15 patients, left ventricular non-compaction (LVNC) in 12 patients, and myocardial hypertrophy in 9 patients. During the diagnosis and follow-up, QTc interval prolongation occurred in 9 patients, ventricular arrhythmias in 2 patients, neutropenia in 9 patients, and monocytosis in 10 patients. Urine tandem mass spectrometry revealed 3-methylglutaconic aciduria (3-MGCA) in 8 of 13 tested patients. Fifteen types of TAZ gene mutation were identified in the 18 patients, including 5 novel mutations. Genetic testing of the parents of 16 patients indicated maternal inheritance in 15 cases. The median follow-up period was 8.5 (2.6, 29.3) months, during which 12 patients died. The median age at death was 7.5 (6.0, 12.8) months. Causes of death included heart failure (7 cases, with 4 concurrent infections), sudden death (3 cases), ventricular fibrillation (1 case), and accidental death (1 case).Conclusion·BTHS is a rare genetic disorder with multisystem involvement. Its primary clinical manifestations include cardiomyopathy and neutropenia. The condition typically presents early in life, with severe progression and poor prognosis. Prompt recognition, accurate diagnosis, and early intervention are essential for managing this disease. |
| format | Article |
| id | doaj-art-19cf1e5859d24420b8494cac774367bb |
| institution | DOAJ |
| issn | 1674-8115 |
| language | zho |
| publishDate | 2024-11-01 |
| publisher | Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) |
| record_format | Article |
| series | Shanghai Jiaotong Daxue xuebao. Yixue ban |
| spelling | doaj-art-19cf1e5859d24420b8494cac774367bb2025-08-20T02:52:19ZzhoEditorial Office of Journal of Shanghai Jiao Tong University (Medical Science)Shanghai Jiaotong Daxue xuebao. Yixue ban1674-81152024-11-0144111406141310.3969/j.issn.1674-8115.2024.11.0071674-8115（2024）11-1406-08Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndromeZHAN Tianliu0YAN Zihang1WU Jinjin2CHEN Hao3CHEN Lijun4CHEN Yiwei5FU Lijun6Department of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaDepartment of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaDepartment of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaDepartment of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaDepartment of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaDepartment of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaDepartment of Cardiology, Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai200127, ChinaObjective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine, from January 2010 to November 2023, were included. Clinical data (age, birth weight, family history, electrocardiogram, echocardiogram, urine tandem mass spectrometry, complete blood count, blood biochemistry, and genetic test results) were collected to analyze the clinical characteristics, genetic findings, and prognoses of the patients.Results·The study included 18 male patients with BTHS (including 2 monozygotic twins), consisting of one Yi ethnic and 17 Han Chinese patients. The median age at diagnosis was 3.0 (1.0, 5.6) months. Fifteen patients experienced decreased cardiac function at disease onset, with a left ventricular ejection fraction (LVEF) below 50%. Dilated cardiomyopathy (DCM) was observed in 15 patients, left ventricular non-compaction (LVNC) in 12 patients, and myocardial hypertrophy in 9 patients. During the diagnosis and follow-up, QTc interval prolongation occurred in 9 patients, ventricular arrhythmias in 2 patients, neutropenia in 9 patients, and monocytosis in 10 patients. Urine tandem mass spectrometry revealed 3-methylglutaconic aciduria (3-MGCA) in 8 of 13 tested patients. Fifteen types of TAZ gene mutation were identified in the 18 patients, including 5 novel mutations. Genetic testing of the parents of 16 patients indicated maternal inheritance in 15 cases. The median follow-up period was 8.5 (2.6, 29.3) months, during which 12 patients died. The median age at death was 7.5 (6.0, 12.8) months. Causes of death included heart failure (7 cases, with 4 concurrent infections), sudden death (3 cases), ventricular fibrillation (1 case), and accidental death (1 case).Conclusion·BTHS is a rare genetic disorder with multisystem involvement. Its primary clinical manifestations include cardiomyopathy and neutropenia. The condition typically presents early in life, with severe progression and poor prognosis. Prompt recognition, accurate diagnosis, and early intervention are essential for managing this disease.https://xuebao.shsmu.edu.cn/article/2024/1674-8115/1674-8115-2024-44-11-1406.shtmlbarth syndrome (bths)taz gene mutationcardiomyopathyneutropenia |
| spellingShingle | ZHAN Tianliu YAN Zihang WU Jinjin CHEN Hao CHEN Lijun CHEN Yiwei FU Lijun Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome Shanghai Jiaotong Daxue xuebao. Yixue ban barth syndrome (bths) taz gene mutation cardiomyopathy neutropenia |
| title | Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome |
| title_full | Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome |
| title_fullStr | Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome |
| title_full_unstemmed | Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome |
| title_short | Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome |
| title_sort | analysis of clinical and genetic characteristics of 18 pediatric patients with barth syndrome |
| topic | barth syndrome (bths) taz gene mutation cardiomyopathy neutropenia |
| url | https://xuebao.shsmu.edu.cn/article/2024/1674-8115/1674-8115-2024-44-11-1406.shtml |
| work_keys_str_mv | AT zhantianliu analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome AT yanzihang analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome AT wujinjin analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome AT chenhao analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome AT chenlijun analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome AT chenyiwei analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome AT fulijun analysisofclinicalandgeneticcharacteristicsof18pediatricpatientswithbarthsyndrome |