Bis-diamine is a potent teratogen in rats, with it inducing cono-truncal diseases and thymic hypoplasia which are similar to chromosome 22q11 deletion syndrome (C22DS) in human. These cardiac cross-sectional anatomies in the fetus with rapid whole-body freezing, cutting with a freezing microtome every 0.5 mm, photographing with photomicroscope (Wild M400) in locking down view were published previously. This reports another two fetuses with tetralogy of Fallot photographed in looking–up view in every 0.25 mm and a fetus with normal heart. 1) has a normal heart with absent thymus, 2) is a heart with tetralogy of Fallot (TOF), severe pulmonary valve stenosis, hypoplastic pulmonary artery, absent ductus arteriosus, single right coronary artery with high take-off and aberrant origin of right subclavian artery, and 3) is a heart with TOF, absent pulmonary valve, and aneurysmally-dilated pulmonary arteries obstructing the trachea, dilated right and left ventricle, increased pericardial effusion, along with a hypoplastic thymus. These color pictures will be instructive for the echocardiographer in examining the fetus with TOF.

Background: In recent years, acute rheumatic fever (ARF) has been considered an extremely rare condition in Japan, with an incidence of 5–10 cases annually. However, it should be recognized as a serious illness because some patients may develop heart failure (HF) if diagnosis and treatment are delayed.

Methods: The clinical course and prognoses of ARF with carditis in six patients (n＝3 women) diagnosed in our institutions from 1994 to 2018 were investigated by retrospectively reviewing medical records.

Results: The age at diagnosis was 3–13 (median: 8.5) years. The symptoms at onset were fever and arthralgia/arthritis in four, arthralgia/arthritis alone in one, and shortness of breath and fatigability due to HF in one patient. The duration from the initial presentation to the diagnosis of ARF ranged from 3 days to 4 years and 10 months (median: 11.5 days). None of the patients presented with major symptoms other than carditis and polyarthritis based on the revised Jones Criteria. Similar to valvulitis, aortic valve regurgitation (AR), mitral regurgitation (MR), and both AR and MR were observed in 5, 3, and 2 cases, respectively. The patients were treated with prednisolone and/or aspirin and antibiotics (provided as prophylaxis drugs). During follow-up (range: 1–15 [median: 9] years), MR almost disappeared; however, AR remained. Moreover, aortic valve replacement was required in two cases, and recurrence of ARF was not noted.

Conclusion: In this study, arthritis-related symptoms were more likely to be observed during the initial presentation, and the diagnosis of carditis was delayed, resulting in a critical clinical course in some cases. Patients with streptococcal infection-related polyarthritis should be screened for carditis by a pediatric cardiologist.

Background: Lymph flow disorder in the central lymph pathway is referred to as central lymphatic disease. This disorder can be intractable and can present as postoperative chylothorax. Although novel concepts and treatments have been reported, some specialists were generally asked about ideas beyond their specialties. Hence, the current study aimed to validate the ideas that emerged from these consultations.

Material and Methods: We analyzed the consultations handled by our team from May 2016 to May 2020. All data about the location and characteristics of the consulted hospitals, specialty of the consulting physician, and aim of the consultations (operation request, treatment plan, testing details, and nutrition) were retrospectively assessed.

Results: In total, 38 consultations were evaluated. We observed an annual increment in the number of cases. The majority of questioners were in the Kanto region, university hospitals, and pediatric cardiologist, about postoperative chylothorax. Notably, the consultations primarily aimed to discuss treatment plans rather than operative requests.

Conclusion: A standardized therapeutic strategy for central lymphatic disease should be established. Thus, a proposal for such a treatment approach was presented in our strategy flowchart.

Background: The Blalock-Taussig shunt (BTS) is the standard first-stage surgical palliative treatment for congenital heart disease with duct-dependent pulmonary circulation (CHD-DPC). Although ductal-stenting (DS) is rarely performed, it is feasible and safe for patients with a high perioperative risk.

Method: We retrospectively investigated four patients who underwent DS for CHD-DPC at our hospital. The data of patients who underwent DS and BTS (n＝76) for CHD-DPC were analyzed. Then, an intergroup comparison of perioperative complications and mortality rates was performed.

Results: All patients successfully underwent DS. After DS, two patients required medical treatment for heart failure secondary to increased pulmonary perfusion. After 1 month, re-in-stenting was performed due to in-stent restenosis. One patient developed total occlusion at the approach site of the right femoral artery (FA). Therefore, balloon-expandable stents were deployed into the FA. With regard to prognosis, one patient underwent the bidirectional Glenn procedure and was waiting to undergo the Fontan procedure. Moreover, two patients underwent the Rastelli procedure. One patient with trisomy 18 was discharged. The perioperative complication and mortality rates were higher in patients who underwent BTS with extra-cardiac anomaly or chromosomal abnormalities than in those who underwent DS.

Conclusion: DS is an effective first-stage palliative strategy for patients with a high perioperative risk. Moreover, DS can be further improved by optimizing the stent size and approach site.

Background: Recently, improvements in echocardiography techniques have increased the diagnosis of small asymptomatic coronary arteriovenous fistula (CAVF). However, the natural history and incidence of spontaneous closure are unknown.

Methods: We retrospectively analyzed all patients aged under 18 years with CAVF diagnosed via transthoracic two-dimensional doppler echocardiography between 2009 and 2019.

Results: In total, 65 (34 boys) children were diagnosed with CAVF and were enrolled in the analysis. The median age at diagnosis was 4 (0–86) months, and the mean follow-up period was 42 (0–215) months. Spontaneous closure of CAVF was observed in 31 (48％) children. There was no significant difference in terms of closure rate according to gender. Meanwhile, the left and right coronary arteries remarkably differed in terms of CAVF patency according to origin (p＜0.05). Moreover, there was a significant difference between the pulmonary artery and the ventricle in terms of CAVF patency according to drainage (p＜0.05). One patient underwent coil embolization at the age of 1 year and 4 months. However, no other intervention was required. None of the patients had ischemia or heart failure during the clinical course.

Conclusion: Approximately 48％ of patients experienced spontaneous closure of CAVF. The closure rate was higher than that previously reported, and it differed based on origin and opening of the fistula. Hence, assessment of the origin and opening of the fistula may be useful during follow-up.

Background: Social independence is one of the most important factors among adults with congenital heart disease. Social independence has various definitions. Based on previous studies, the indicators of independence in this population include employment and marital status. In this study, we focused on living apart from parents as an indicator of the ability to live independently even after the death of parents among adults with congenital heart disease.

Methods: A cross-sectional questionnaire survey was conducted, and a logistic regression analysis was performed to identify factors associated with living apart from parents.

Results: Valid responses were obtained from 373 participants. Of them, 237 (63.5％) lived with their parents, and 135 (36.2％) lived apart from their parents. The employment rate was 61.9％. Using a multivariate logistic regression analysis, disease complexity, educational level, and employment status were found to be independent factors for living apart from parents among adults with congenital heart disease.

Conclusion: The important factors associated with living apart from parents among adults with congenital heart disease were low disease severity, high educational level, and regular employment status.

Multifocal atrial tachycardia (MAT) is generally diagnosed in infants under one year of age; a few of these infants may also present with arrhythmia-induced cardiomyopathy. We report the case of 4-month-old boy diagnosed with cardiogenic shock secondary to MAT who responded to antiarrhythmic medications. The child was delivered by caesarean section at gestational age of 36 weeks due to fetal distress; his birth weight was 2,362 g. He was referred to our hospital at four months of age with chief complaints of poor feeding and tachyarrhythmias detected during a previous examination. A 12-lead electrocardiogram (ECG) revealed a narrow QRS complex and irregular tachycardia at a rate of 200–240 beats per minute, leading to the diagnosis of MAT. Echocardiography revealed severe functional decline, including an 11％ shortening fraction (SF) and a dilated left ventricle. Amiodarone (5 mg/kg injection) was administered in an attempt to normalize the atrial tachycardia; this resulted in a substantial drop in blood pressure. The patient was intubated and provided with inotropic support, including dopamine and milrinone. Landiolol (10 µg/kg/min by continuous infusion) and oral aprindine (1.5 mg/kg/day) were initiated on hospital day 8. The frequency of tachycardia decreased and cardiac function gradually recovered over a period of 2–3 weeks. The patient was discharged on hospital day 43 with improved cardiac function and a SF of 30％. Results from a follow-up visit revealed the cardiac function had returned to near-normal with no recurrence of MAT. We conclude that it is critical to control MAT in pediatric patients with arrhythmia-induced cardiomyopathy.

Sinus of valsalva aneurysm (SVA) may be associated with congenital heart disease, and it is an extremely rare condition among children. Moreover, a ruptured SVA has not been observed in a fetus. Herein, we report a case of hypoplastic left heart syndrome (HLHS) with mitral atresia and aortic atresia and a ruptured SVA. HLHS with moderate tricuspid regurgitation was suspected on fetal echocardiography. However, transthoracic echocardiography after birth revealed a continuous flow shunting from the aortic root to the right atrium rather than tricuspid regurgitation. A ruptured SVA was suspected, and countercurrent aortography was performed for further evaluation. Results revealed an SVA of noncoronary cusp with a continuous flow to the right atrium. This finding indicated a ruptured SVA, which can occur even in a fetus. The shunt flow of a ruptured SVA into the right atrium can be misdiagnosed as tricuspid regurgitation on fetal echocardiography. Thus, countercurrent aortography may be a useful modality for diagnosing a ruptured SVA among neonates.

Long QT syndrome (LQTS) type 8 is known as Timothy syndrome. It is a multi-systemic disorder involving QT prolongation on electrocardiogram, syndactyly, congenital heart disease, and mental retardation. Herein, we report a case of LQTS type 8 without multi-systemic disorders with a CACNA1C variant identified on whole-exome analysis. An 18-year-old male patient presented with LQTS (QTc＝500 msc) at the age of 6 years based on a school health examination. He had been asymptomatic but underwent genetic testing at the age of 9 years. However, via a conventional Sanger screening, no mutations were identified in the following genes: KCNQ1 (LQT1), KCNH2 (LQT2), and SCN5A (LQT3). During follow-up at the age of 18 years, an exercise stress test induced functional 2 : 1 atrioventricular (AV) block with a significant QT prolongation. Whole-exome analysis identified Pro857Arg, a pathogenic variant of the CACNA1C gene, in this patient (proband) and his father. We further performed a drug-provocation study using propranolol, mexiletine, and verapamil, and only mexiletine infusion (2 mg/kg) reduced the QTc interval. In conclusion, when a patient with an unidentified genotype in the major three LQTS genes present with a functional 2 : 1 AV block or T-wave alternans, further genetic screening for the CACNA1C gene might be required. There are no established guidelines on the medical treatment of LQT8. However, our findings showed that propranolol and mexiletine can be effective for the management of LQT8.