Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.

BACKGROUND: Parvovirus B19 is a DNA virus transmitted via respiratory droplets, commonly causing erythema infectiosum in children but also implicated in acute myocarditis. In 2024, an outbreak of parvovirus B19 infections was reported across Europe and the United States. Despite growing awareness, data on the clinical features and outcomes of children with parvovirus B19–associated acute myocarditis remain limited. METHODS: This multicenter retrospective observational study reviewed medical records of pediatric patients (<18 years of age) admitted with acute myocarditis to 11 Italian tertiary pediatric cardiac centers between January 1, 2022, and October 31, 2024. Of 217 cases, 66 had confirmed parvovirus B19 DNA in plasma (PVB19 ⁺ ), whereas 82 with negative parvovirus B19 testing served as a comparator group (PVB19 ⁻ ). Population-based incidence trends of pediatric myocarditis were also evaluated in the Lombardy region from 2004 through 2024. RESULTS: Among PVB19 ⁺ acute myocarditis cases, 58 of 66 (87.9%) were admitted in 2024. The median age was 32 months, with 51 of 66 (77.2%) ≤7 years of age, and 36 of 66 (54.5%) were boys. Median plasma viral load was 34 411 copies/mL, whereas only 30 of 56 (53.6%) had immunoglobulin M (IgM) positivity. Among 26 of 66 (39.4%) with available histology, 23 (88.4%) had lymphocytic myocarditis, and parvovirus B19 DNA was identified in 84.0% of myocardial specimens. Among 25 of 65 (38.4%) who underwent genetic testing, none had pathogenic or likely pathogenic variants. Overall, 13 of 66 (19.7%) died, underwent heart transplantation, or received a durable left ventricular assist device (in total, there were 6 deaths, 5 durable left ventricular assist devices, and 5 transplantations) compared with 1 of 82 (1.2%) among PVB19 ⁻ acute myocarditis (one patient who received a durable left ventricular assist device and later underwent transplantation; P <0.001). A marked increase in regional and institutional myocarditis incidence in pediatric acute myocarditis was observed in 2024, predominantly in children ≤7 years of age, driven by PVB19 ⁺ cases. CONCLUSIONS: During the 2024 parvovirus B19 outbreak, pediatric PVB19 ⁺ acute myocarditis cases surged in Italy and were associated with severe outcomes. A high index of suspicion is required for diagnosis, and early virological testing is essential to guide management and potentially improve outcomes.

Purpose: Pediatric liver transplant surgery is burdened by arterial complications whose endovascular treatment is not standardized. We report the outcomes of a cohort of pediatric recipients with hepatic artery complications treated by endoluminal procedures. Materials and Methods: From December 2019 to December 2022, consecutive transplanted pediatric patients who underwent endovascular treatment of hepatic artery complications were reviewed. The analysis included: type of complication (occlusion, stenosis, pseudoaneurysm); onset (acute = < 15 days, subacute = 15–90 days, late = > 90 days); endovascular technique (angioplasty, stenting); complications and outcomes. Technical success was defined as the opacification of the hepatic artery at the final angiogram with < 50% residual stenosis and no pseudoaneurysms. Clinical success was defined by graft’s and patient’s survival. Results: Seventeen patients (8 males; median age 33 months, IQR 9–103) underwent 21 hepatic arteriography procedures for predominantly acute or subacute occlusions (n = 7) or stenosis (n = 11) with concurrent pseudoaneurysms (n = 4). Primary and secondary technical success was achieved in 13/18 and 3/3 procedures, respectively, with overall technical success of 76%. Angioplasty alone was successful in 5/21 procedures; stent-retriever thrombectomy was performed in one occlusion with thrombosis; stenting was required in 9/17 (53%) patients. Clinical success was obtained in 14/17 (82%) patients with hepatic artery patency after a median of 367 days (IQR 114.5–500). Clinical failure occurred in 3 permanent occlusions, with 2 deaths and 1 re-transplantation. Procedure-related complications included minor events in 3/17 (18%) patients and 1/17 (6%) death. Conclusion: In liver transplanted children with hepatic artery complications, endovascular treatment may provide clinical success, with stenting often required in acute and subacute conditions. Level of Evidence: Level 4. Graphical

Background and aims Minimally invasive repair of pectus excavatum is associated with intense postoperative pain. We aimed to evaluate the effectiveness of percutaneous intercostal cryoanalgesia according to the different timing of its preoperative application. Outcome variables included pain, drug consumption, time to mobilization, and hospital length of stay. Methods Retrospective data analyzed from a single pediatric institution, involving a series of consecutive patients who underwent pectus surgery. Group 1: 18 patients received thoracic epidural analgesia. Group 2: 11 patients underwent cryoanalgesia on the same day of surgery and epidural analgesia as a bridge to cryoanalgesia onset. Group 3: 13 patients underwent earlier preoperative intercostal cryoanalgesia with a median of 6 days (IQR 3–6) before surgery. All groups received rescue systemic analgesia. Results Pain scores were similar among groups. The incidence of severe pain decreased in Group 3 versus Group 1 (38% vs 78%) (p<0.05). Ropivacaine epidural cumulative dose (mg/kg) decreased in Group 2 versus Group 1: 16 (IQR 12–23) versus 27 (IQR 22–35) (p<0.01). Cumulative oral morphine equivalent dose (mg/kg) decreased among groups: 12 (IQR 9.3–17), 8 (IQR 4.2–12), and 0.2 (IQR 0.0–0.3) (p<0.001) for Groups 1–3, respectively. Length of stay (days) also decreased among Groups 1–3, respectively: 7 (IQR 6–7), 6 (IQR 5–7), and 4 (IQR 4–5) (p<0.001). Conclusions This exploratory observational study suggests that the timing of cryoanalgesia may play a crucial role in its efficacy, with earlier placement being associated with improvements in pain, opioid utilization, and length of stay.