The number of adult patients suffering late adverse outcomes after Fontan surgery, which is functional repair of congenital complex cyanotic heart disease with single ventricle physiology, has been steadily increasing. Fontan patients have diminished cardiac output and high central venous pressure, mainly due to absence of the pulmonary ventricle. Although adult patients are largely asymptomatic, their exercise capacity is reduced with excessive ventilation during exercise as in congestive heart failure. In addition, several late complications including arrhythmia, ventricular dysfunction, autonomic disturbance, liver fibrosis, and protein-losing enteropathy are known to occur in these patients. Therefore, there has been increased focus on health outcomes of adult patients late after Fontan surgery. Such patients need to be cared for using a multidisciplinary approach as in the case of patients with multi-organ disease, which comprises many interactions between the cardiovascular system and other organs.

Background: Rashkind Balloon Atrial Septostomy (BAS) can be technically challenging if infants with Hypoplastic left heart syndrome (HLHS) also have unusual atrial septal anatomy or small ASD.

Objectives: To evaluate our institutional experience performing BAS in infants with HLHS.

Methods: We retrospectively reviewed infants with HLHS who underwent surgery and BAS between January 2006 and December 2015. The infants were divided into three groups: infants who did not require BAS, those who required catheter BAS, and those who required open BAS. Additionally, infants who underwent catheter BAS were divided into two groups: infants with standard atrial septal anatomy and those with complex atrial septal anatomy based on previous medical reports.

Results: Of the 70 cases, 57 infants (81％) underwent Glenn surgery. After Glenn surgery, a significant difference in survival rate was seen, with 86％ (44/51) in the no BAS group, 91％ (10/11) in the catheter BAS group, and 25％ (2/8) in the open BAS group (p＝0.0002). However, no significant difference was noted between the no BAS group and the catheter BAS group (p＝1.0). Considering the 56 patients who underwent catheterization after Glenn surgery, no differences were found between the three groups in mean pulmonary artery pressure, pulmonary vascular resistance, or pulmonary artery index. Additionally, we classified catheter BAS cases into the standard ASD group (n＝5) and the complex ASD group (n＝5) based on ASD location, ASD size, and atrial septum thickness. All cases in the standard group underwent complete Rashkind BAS, but in the complex ASD group, only one case underwent complete Rashkind BAS and the remaining cases required Rashkind BAS prior to Static BAS (p＝0.048). Following septostomy, ASD size, ASD flow, or SpO₂ did not show statistically significant differences between the two groups.

Conclusions: Catheter BAS is effective in infants with HLHS with restrictive atrial septum. Hemodynamic data during catheterization after Glenn surgery in patients who required BAS were similar to those in patients who did not undergo BAS. Compared with infants with standard atrial septum, infants with complex atrial septum could have equivalent BAS outcomes even though more of them require static BAS.

Concomitant with advances in genetic diagnosis of congenital long QT syndrome (LQTS), results of genetic analysis in patients with LQTS are becoming increasingly important in clinical practice to design appropriate treatment strategies. The present study reports an LQTS family. The proband was a female patient who exhibited repetitive exercise-induced syncope since the age of six, and her QT interval in ECG was markedly prolonged (0.67 s using Bazett’s formula). Except for her maternal great-grandfather who died suddenly in his 30s, she had no family history of syncope or sudden death. She was diagnosed with LQTS and was treated with a β-blocker. However, the syncope recurred at the age of ten. We performed genetic analysis of the proband and identified the heterozygous compound mutations, KCNQ1 p.K358_Q359del and SCN5A p.A1330T. Her father and elder sister carried heterozygous SCN5A p.A1330T, and her mother and younger sister carried heterozygous KCNQ1 p.K358_Q359del. Although the proband had not exhibited syncope for over 8 months with a β-blocker and a Na channel blocker, we considered placement of an implantable cardioverter-defibrillator as secondary prevention because of the severe phenotype and the compound mutations. Her elder sister who had a normal QT interval was followed without medication. In contrast, we started β-blocker therapy as primary prevention in her younger sister because she exhibited a prolonged QT interval after exercise. Detailed consideration of the gene mutations and evaluation of the phenotype were both important in determining treatment strategies.

Some pediatric patients with heart disease are faced with high medical expenses in their adulthood. Most social support systems in place for management of pediatric cases terminate at 20 years of age in Japan. We describe an adult patient faced with this situation who needed our guidance for social support and another case with a successful transition. Case 1 underwent Fontan surgery abroad. He had been stable and returned to Japan when he was 19 years old. The attending physician in Japan started pulmonary vasodilators, and medical costs dramatically increased. Due to delayed entry into the adult social support system, he had difficulties in paying the high medical expenses; however, the High-Cost Medical Expense Benefit system helped reduce the expenses.

Medical expenses in Case 2 (pulmonary arterial hypertension) were high owing to pulmonary vasodilators and home oxygen therapy. The designated intractable/rare diseases system greatly reduced out-of-pocket expenses of this patient. Social support systems for adults are complex and difficult to understand; additionally, they frequently change. Therefore, medical personnel involved in transition of pediatric patients with heart disease need to understand these systems and assist patients and their families to avoid hardship by providing appropriate information and guidance regarding adult social support systems.