Trisomy 18 is a chromosomal abnormality syndrome and is associated with congenital heart disease in approximately 90％ of cases. The most common form of cardiac disease in patients with trisomy 18 is pulmonary arterial hypertension which often causes death from heart failure or pulmonary arterial hypertension-related episodes. Some investigators have recently reported that intensive medical management can extend the lifespan of patients with trisomy 18. Histopathological findings in patients with trisomy 18 often show mild medial hypertrophy of the small pulmonary arteries caused by pulmonary arterial hypertension regardless of severity, with relatively common findings of medial defects and hypoplasia of the small pulmonary arteries. Pulmonary disease-associated upper airway stenosis and alveolar hypoxia are speculated to be associated with complications from pulmonary arterial hypertension. Hence, research on pulmonary circulation, including pulmonary arterial compliance, is being conducted, and discussions on the pros and cons of intracardiac repair for congenital heart disease are being held to improve the long-term prognosis of patients with trisomy 18. We hope that further accumulation of evidence from multiple perspectives will help in the decision-making regarding the treatment process and improve the quality of life of patients with trisomy 18 and their families.

The disease-causing gene, BMPR2, in pulmonary arterial hypertension (PAH) has been discovered over two decades ago. Subsequently, the number of identified causal genes and candidate genes has increased to several tens. However, general clinicians may find the clinical significance and utility of these genes in the clinical setting challenging to comprehend. This review aimed to provide an overview, particularly focusing on three genes, including TBX4, SOX17, and GDF2, which gained considerable attention and may possess high clinical relevance at present. Additionally, epigenetic analysis and genetic testing in patients with PAH and their families will be introduced. Finally, the potential for developing novel therapeutic approaches for PAH based on genetic backgrounds and present perspectives will be discussed.

Cartilaginous ring, tracheobronchomalacia (TBM), and vascular compression syndrome (VCS) may cause airway obstruction. Many TBM and VCS are considered to be left undiagnosed, and thus, proper treatment may not be delivered to a significant proportion of patients. Pediatric surgeons often provide surgical treatment for congenital TBM. Conversely, coexisting congenital cardiovascular anomalies or previous cardiovascular procedures may cause VCS. Therefore, cardiovascular surgeons may be the best provider of surgical treatment in this context. A significant overlap of surgical techniques for TBM and VCS was observed although sufficient knowledge and experience to treat TBM is mandatory, even for cardiovascular surgeons, in treating VCS. Herein, we discuss surgical options for TBM and VCS to expand the surgical repertoire of cardiovascular surgeons.

The placental circulation is lost and pulmonary vascular resistance is reduced by the establishment of respiration at birth. Consequently, the afterload decreases in the right ventricle and increases in the left ventricle. Both left and right ventricular output increase after birth and the right to left ventricular output ratio decreases. Most normal full-term infants easily handle this major change from fetal to neonatal circulation. However, premature infants have difficulty adapting to the change in loading conditions due to their immaturity, causing maladaptation (circulatory failure) in some cases. Circulatory failure, combined with blood vessel fragility and immature hemostatic capacity, can cause significant complications that have a major prognostic impact, such as intracranial hemorrhage. Therefore, the prognoses of preterm infants and sick newborns can be improved with accurate identification of the causes of circulatory failure and appropriate intervention. Neonatologists in Japan frequently perform echocardiography for preterm infants during the early postnatal period, and neonatal management is based on the findings from this evaluation. This meticulous circulation management is rare globally and is thought to contribute to the excellent outcomes of neonatal care in Japan. This article reviews the current methods for neonatal circulatory assessment and treatment in Japan and describes the typical pathophysiology of circulatory failure.

Background: Re-interventions must be avoided after surgical correction of the right ventricular outflow tract (RVOT) and/or pulmonary artery (PA). This study aimed to examine the status focusing the surgical material used and to estimate the economic impact of re-interventions.

Methods: The Japanese Society of Pediatric Cardiology and Cardiac Surgery (JSPCC) performed a web-based survey. This study calculated the actual medical costs of the re-interventions performed at Osaka Medical and Pharmaceutical University Hospital.

Results: Responses were collected from 31/49 (63.3％) core hospitals in Japan. This study revealed 2,520 relevant RVOT/PA surgeries and 500 re-interventions, 238 (47.6％) re-operations, and 262 (52.4％) catheter interventions in the last 3 years. Surgical materials included autologous pericardium (n＝272, 54.5％), polytetrafluoroethylene (n＝179, 35.8％), and glutaraldehyde-treated bovine pericardium (n＝49, 9.8％). Most re-interventions for a failed autologous pericardium were performed relatively early postoperatively. Those for the other two materials occurred throughout the postoperative period, but especially after five years. Degradation, excess intimal proliferation, and inextensibility are the adverse changes in materials. The average medical cost of re-interventions was 6 million yen per case. This yield estimated annual expenses for re-interventions of approximately 900 million yen at the 31 hospitals and approximately 2.7 billion yen at 90 centers nationwide.

Conclusion: The JSPCC questionnaire helped understand the status of re-interventions after RVOT/PA repair using existing surgical materials. The total medical costs for the re-interventions should not be overlooked in the national healthcare system.

Here, we report a previously unreported infant with idiopathic hypereosinophilic syndrome-associated eosinophilic myocarditis who developed ventricular fibrillation and was rescued by an automated external defibrillator. The patient had no recurrence of arrhythmia (including ventricular fibrillation). Blood tests initially revealed an elevated brain natriuretic peptide level, and echocardiography revealed small amounts of pericardial effusion and mitral valve regurgitation. Fortunately, the patient recovered without necessitating therapeutic intervention (e.g., steroids). The eosinophil number decreased, but it did not normalize, and late gadolinium enhancement findings on cardiac magnetic resonance imaging remained positive. Therefore, careful outpatient follow-up is required.

Coronavirus disease 2019 vaccine-associated myocarditis (C-VAM) is a rare complication, but it has been reported and has attracted attention from various countries. C-VAM occurrences may increase with the rise in the number of people vaccinated. Here, we report a case of C-VAM with persistent abnormal findings on cardiac magnetic resonance imaging (CMR) for one year after disease onset. A 14-year-old male patient presented with fever and chest pain after receiving the second dose of the coronavirus mRNA vaccine. Electrocardiogram (ECG) changes, elevated serum troponin I level, and abnormal CMR findings indicated C-VAM diagnosis. The acute phase was very mild which improved in a few days with symptomatic treatment alone; however, the ECG normalized after more than a month, and abnormal findings on late gadolinium enhancement (LGE)-CMR remained one year after disease onset. The long-term prognosis of C-VAM remains unclear. Residual LGE findings in non-C-VAM acute myocarditis have been associated with long-term prognosis. Therefore, long-term follow-up is necessary for C-VAM despite the mild clinical course of the acute phase.