Simple shunt diseases are common in older adults with congenital heart disease. The most frequent disease is atrial septal defect (ASD). The pathophysiology of ASD in elderly individuals is notably intricate, marked by an elevated incidence of complications such as heart failure, valvular disease, and atrial fibrillation, stemming from enduring right ventricular volume overload. With the widespread use of percutaneous catheter closure of ASD, even elderly ASD patients are now undergoing closure. In the case of ASD closure in patients with heart failure or atrial fibrillation, it is imperative to administer comprehensive treatment for these comorbidities prior to embarking on the closure procedure. Elderly patients with ASD commonly present not only with manifestations of right-sided heart failure but also exhibit compromised left ventricular diastolic function, necessitating vigilant management of congestion during and post-closure. Ventricular septal defect (VSD) is the second most frequent form of ACHD in the elderly. Patients with VSD that persist into adulthood have small defects or pulmonary hypertension, but the effects of aging should be noted because of the increased risk of decreased left ventricular compliance and heart failure. Additionally, Patent Ductus Arteriosus (PDA) represents another relatively prevalent condition, and with the advent of percutaneous catheter-based closure, more elderly patients are becoming eligible for this therapeutic intervention.

Infection control and neurologic management play a major role in the management of congenital heart diseases, specifically in perioperative care. Unlike the highly individualized circulatory and respiratory management of congenital heart diseases, the principles of infection control and neurologic management are uniformly applied to all patients admitted to the intensive care unit (ICU). Moreover, it is characterized by the involvement of multiple professionals and not only physicians. In various healthcare-associated infections, prevention using effective and sustainable bundles and treatment based on urgency and severity along with the three factors of pathogen, route of infection, and host are required. In neurologic management, setting management goals, objective evaluation using validated assessment tools, and titration based on the evaluation are necessary. Bundles and protocols tailored to the situation of each ICU, reliable implementation and monitoring, and regular review and improvement are required to optimize the management.

RAS/mitogen activated protein kinase (MAPK) pathway dysregulation, triggered by germline mutations in the involved genes, leads to a congenital syndrome termed “RASopathy.” Each form of RASopathy expresses a unique clinical phenotype; however, they share a series of functional and morphological organ abnormalities, including cardiac malformations, specific facial features, skeletal abnormalities, and intellectual disabilities. Secondary hypertrophic cardiomyopathy is the characteristic cardiac phenotype of RASopathy; its presence is strongly associated with heart failure-related mortality and sudden death. Therefore, RASopathy-associated hypertrophic cardiomyopathy (RAS-CMP) is a disease of priority in pediatric cardiology. However, the complete picture of its pathogenesis remains to be elucidated. Along with the development of novel molecular therapeutics, improving the quality of RASopathy care through collaborations between basic research and clinical practice is significantly needed. This review aimed to introduce the current evidence surrounding RAS-CMP and outline the knowledge gaps that should be addressed. Moreover, from the viewpoint of biological analogies between RAS/MAPK-related cancers and RASopathies, we deepen our discussion of recently emerging clues for exploring novel therapeutic approaches to RASopathy care.

Among pediatric cardiologists and pediatric cardiac surgeons, Down syndrome is a well-known chromosomal abnormality because of its association with various cardiovascular diseases. Although there still remain several clinical questions regarding the fundamental mechanisms of higher occurrence of congenital heart diseases and pulmonary arterial hypertension in Down syndrome, the underlying molecular mechanisms of this syndrome on heart development and pulmonary vascular pathology are largely unknown. This review article aimed to introduce previous retrospective cohort studies on Down syndrome and the current state of basic research on cardiovascular diseases, including congenital heart diseases and pulmonary arterial hypertension associated with Down syndrome.

The normal pulmonary vascular bed is a low-pressure, low-resistance, and high-compliance system. In healthy participants, favorable right ventricle (RV)-to-pulmonary artery (PA) coupling matches RV contractility and RV afterload. RV dysfunction is the most significant predictor of poor prognosis in patients with pulmonary arterial hypertension (PAH). The gold standard for evaluating RV–PA coupling is right heart catheterization, which acquires pressure and volume. Pressure–volume loop-derived end-systolic elastance (Ees) and end-systolic arterial elastance (Ea). RV–PA coupling is the Ees/Es ratio, and a decreased Ees/Ea ratio is a powerful factor in RV dysfunction. The tricuspid annular plane systolic excursion (TAPSE) and estimated systolic pulmonary artery pressure (SPAP) combination has been proposed as a significant prognostic factor in PAH, and the TAPSE/SPAP ratio is a noninvasive index of RV–PA coupling. In compensated states, the RV contractile increases when the afterload increases. In contrast, in decompensated states, the RV contractile function no longer increases when the afterload increases, thereby resulting in lower RV–PA coupling ratios. In patients with severe PAH, early and accurate RV–PA coupling evaluation is essential for clinical decision making.

Vascular embolization, specifically coil embolization, is performed widely in pediatric cardiology. Indications for embolization have been increasing because of the development of devices in recent years. Provided the necessity to embolize diverse anatomic vessels in congenital heart disease, it is crtitical to carefully consider the risks and precautions associated with each vascular anatomy when developing a treatment strategy. This article describes the basic techniques and special considerations for vascular anatomy embolization that include our own approaches.

In Japan, percutaneous atrial septal defect (ASD) closure has been conducted for approximately 20 years. Percutaneous ASD closure has been established as a standard therapy for patients with ASD of various ages, from infants to older adults, because it is a less invasive procedure without sternotomy. It is not recommended for patients with primum, sinus venosus, and coronary sinus type ASDs but for those with ostium secundum ASD. Detailed anatomical assessments of a defect by transesophageal echocardiography are crucial for deciding the indication of percutaneous ASD closure because the procedural success depends on the location and size of the defect. As three types of devices for ASD closure are currently available in Japan, fully understanding the characteristics and practices of these devices to prevent serious complications related to this procedure, including cardiac erosion and device embolization, is needed.

We report the experience of physical therapy in a pediatric patient who had undergone heart transplantation after wearing an extracorporeal ventricular assist device (VAD), EXCOR Pediatric (EXCOR). In February year X, a 7-year-old boy with dilated cardiomyopathy presented to a nearby hospital with upper respiratory tract symptoms and abdominal pain. He was transferred to our hospital because of significant enlargement and poor contraction of the left region of the heart. The main diagnosis on the 7th day after the transfer was ventricular tachycardia (VT). He was fitted with a left VAD (Rota Flow), which was converted to EXCOR the following day. On postoperative day 4, we initiated rehabilitation. With significant improvement in muscle strength, he was gradually permitted to get out of bed, and by postoperative day 140, he walked 1 km continuously. His fatigue worsened at the 7th postoperative month. At 11th, complications of severe aortic regurgitation and bilateral heart failure worsened. At 20th, he developed sustained VT. Moreover, his right heart failure worsened, and his hemodynamics were dependent on VAD. After sustained VT developed, the exercise load was adjusted according to his subjective and objective symptoms and cardiac and hepatic function. Heart transplantation was performed 716 days following VAD placement. After the transplant, he could swiftly get out of bed and walk 1.5 km continuously. Complications including right heart failure and arrhythmia that occur during the long waiting period for transplantation may exacerbate heart failure, even with VAD support. Adjusting the exercise load so that PT does not exacerbate heart failure is imperative.