Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review
Salt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest. We present here the first case of a pediatric patient with Gitelman syndrome ass...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-06-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1188098/full |
| _version_ | 1797809759363006464 |
|---|---|
| author | Jakub Zieg Terezia Tavačová Miroslava Balaščáková Petra Peldová Filip Fencl Peter Kubuš |
| author_facet | Jakub Zieg Terezia Tavačová Miroslava Balaščáková Petra Peldová Filip Fencl Peter Kubuš |
| author_sort | Jakub Zieg |
| collection | DOAJ |
| description | Salt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest. We present here the first case of a pediatric patient with Gitelman syndrome associated sudden cardiac arrest without precipitating event. A 10-year-old boy collapsed due to ventricular fibrillation in the Prague tram. Lay cardiopulmonary resuscitation was initiated and external defibrillation restored sinus rhythm within minutes. Initial laboratory examination revealed severe hypokalemia requiring large amounts of electrolyte supplementation. Genetic testing focused to tubulopathies was performed and the diagnosis of Gitelman syndrome was made following the identification of two pathogenic variants in SLC12A3 gene (c.2633 + 1G>A and c.2221G>A). Implantable cardioverter-defibrillator was implanted to prevent sudden cardiac death. The patient was in a good clinical condition with satisfactory electrolyte serum levels at the last follow-up. Causes of electrolyte abnormalities in children should be identified early to prevent the development of rare but potentially fatal complications. |
| first_indexed | 2024-03-13T06:57:36Z |
| format | Article |
| id | doaj.art-1a7145bae8084d9b85f21a64ffb2280a |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-13T06:57:36Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-1a7145bae8084d9b85f21a64ffb2280a2023-06-07T05:04:27ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-06-011110.3389/fped.2023.11880981188098Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature reviewJakub Zieg0Terezia Tavačová1Miroslava Balaščáková2Petra Peldová3Filip Fencl4Peter Kubuš5Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, CzechiaChildren's Heart Centre, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, CzechiaDepartment of Biology and Medical Genetics, University Hospital Motol, Second Medical Faculty, Charles University, Prague, CzechiaDepartment of Biology and Medical Genetics, University Hospital Motol, Second Medical Faculty, Charles University, Prague, CzechiaDepartment of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, CzechiaChildren's Heart Centre, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, CzechiaSalt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest. We present here the first case of a pediatric patient with Gitelman syndrome associated sudden cardiac arrest without precipitating event. A 10-year-old boy collapsed due to ventricular fibrillation in the Prague tram. Lay cardiopulmonary resuscitation was initiated and external defibrillation restored sinus rhythm within minutes. Initial laboratory examination revealed severe hypokalemia requiring large amounts of electrolyte supplementation. Genetic testing focused to tubulopathies was performed and the diagnosis of Gitelman syndrome was made following the identification of two pathogenic variants in SLC12A3 gene (c.2633 + 1G>A and c.2221G>A). Implantable cardioverter-defibrillator was implanted to prevent sudden cardiac death. The patient was in a good clinical condition with satisfactory electrolyte serum levels at the last follow-up. Causes of electrolyte abnormalities in children should be identified early to prevent the development of rare but potentially fatal complications.https://www.frontiersin.org/articles/10.3389/fped.2023.1188098/fullarrhythmiaGitelman syndromehypokalemiahypomagnesemiasudden cardiac arrest |
| spellingShingle | Jakub Zieg Terezia Tavačová Miroslava Balaščáková Petra Peldová Filip Fencl Peter Kubuš Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review Frontiers in Pediatrics arrhythmia Gitelman syndrome hypokalemia hypomagnesemia sudden cardiac arrest |
| title | Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review |
| title_full | Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review |
| title_fullStr | Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review |
| title_full_unstemmed | Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review |
| title_short | Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review |
| title_sort | sudden cardiac arrest in a child with gitelman syndrome a case report and literature review |
| topic | arrhythmia Gitelman syndrome hypokalemia hypomagnesemia sudden cardiac arrest |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1188098/full |
| work_keys_str_mv | AT jakubzieg suddencardiacarrestinachildwithgitelmansyndromeacasereportandliteraturereview AT tereziatavacova suddencardiacarrestinachildwithgitelmansyndromeacasereportandliteraturereview AT miroslavabalascakova suddencardiacarrestinachildwithgitelmansyndromeacasereportandliteraturereview AT petrapeldova suddencardiacarrestinachildwithgitelmansyndromeacasereportandliteraturereview AT filipfencl suddencardiacarrestinachildwithgitelmansyndromeacasereportandliteraturereview AT peterkubus suddencardiacarrestinachildwithgitelmansyndromeacasereportandliteraturereview |