{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T14:04:59Z","timestamp":1779977099383,"version":"3.53.1"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare hereditary arrhythmia with high mortality risk. Its clinical presentation is heterogeneous, and diagnosis is often delayed. While typically characterized by exercise-induced ventricular arrhythmias, CPVT can be associated with complex clinical features such as sinus bradycardia and neurodevelopmental disorders (NDDs), which complicate management. This study aims to improve awareness of CPVT among clinicians by summarizing the clinical and genetic characteristics of seven CPVT patients, with particular emphasis on these under-recognized comorbidities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Children with CPVT admitted to the Department of Cardiology of Nanjing Children's Hospital diagnosed with pathogenic variants from January 2020 to January 2024 were selected as the study subjects. We conducted a retrospective analysis of their clinical and genetic characteristics of these children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of seven patients with CPVT were included, whose median age of onset was 7.7 (7.0, 8.8) years, and the longest diagnostic delay was nearly 8 years. All patients experienced exercise or emotional agitation prior to symptom onset: five presented with syncope, one with palpitations, and one with cardiac arrest. Notably, one patient exhibited sinus bradycardia on resting ECG, and two patients had comorbid neurodevelopmental disorders. The genetic tests revealed that four patients had variants in the\n                      <jats:italic>RYR2<\/jats:italic>\n                      gene. The p.R2420M and p.F4889L in\n                      <jats:italic>RYR2<\/jats:italic>\n                      had not been previously reported. The remaining three patients had variants in the\n                      <jats:italic>CASQ2<\/jats:italic>\n                      ,\n                      <jats:italic>CALM2<\/jats:italic>\n                      , and\n                      <jats:italic>TECRL<\/jats:italic>\n                      genes, respectively. The patient with sinus bradycardia required an implantable cardioverter-defibrillator (ICD) for safe pharmacologic up-titration. After a mean follow-up period of (1.4\u2009\u00b1\u20090.7) years, five patients remained free of syncope, while one patient with an\n                      <jats:italic>RYR2<\/jats:italic>\n                      variant and neurodevelopmental comorbidity died suddenly.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Here we analyzed the clinical and genetic characteristics of seven children with CPVT, and identified two novel variants in\n                      <jats:italic>RYR2<\/jats:italic>\n                      . It highlights the critical importance of recognizing and managing complex presentations, specifically sinus bradycardia and NDDs. Sinus bradycardia poses a therapeutic dilemma by limiting \u03b2-blocker use, often necessitating device therapy. Neurodevelopmental disorders signify a high-risk subgroup requiring aggressive management. Enhanced awareness and personalized risk stratification are essential for optimizing outcomes in pediatric CPVT.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1780382","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T13:31:47Z","timestamp":1779975107000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic analysis of pediatric catecholaminergic polymorphic ventricular tachycardia: focus on sinus bradycardia and neurodevelopmental disorders"],"prefix":"10.3389","volume":"14","author":[{"given":"Lianfu","family":"Ji","sequence":"first","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiwei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinlong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1161\/01.CIR.0000020013.73106.D8","article-title":"Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia","volume":"106","author":"Priori","year":"2002","journal-title":"Circulation"},{"key":"B2","doi-asserted-by":"publisher","first-page":"e20","DOI":"10.15420\/aer.2022.09","article-title":"Catecholaminergic polymorphic ventricular tachycardia","volume":"11","author":"Abbas","year":"2022","journal-title":"Arrhythm 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