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The case of a 14-year-old girl with acute myocardial infarction due to coronary artery aneurysms (CAAs) of unknown origin, which resembled coronary artery lesions caused by Kawasaki disease, is reported. She was transferred to our hospital due to chest pain with ST-T elevation. She had no history of Kawasaki disease. On the first admission, she was misdiagnosed with acute myocarditis. Then, 54 days later, she experienced chest pain with exertional dyspnea. Her electrocardiogram showed negative T waves in the chest leads. A CAA of the left coronary artery was suspected on two-dimensional echocardiography. Coronary angiograms showed 90% stenosis and multiple CAAs of the left anterior descending artery and the bifurcation of the left coronary artery. Both the right coronary artery and left circumflex artery were occluded. A left ventriculogram showed dyskinesis and an aneurysm at the apex. She underwent triple-vessel coronary artery bypass grafting, and her symptoms improved. In addition, an intracranial aneurysm was also found on cerebral angiography. There were no specific laboratory findings other than SS-A antibodies. It was suspected that the weakness of the vessels was related to the disease. It may have been a different disease that was never previously detected, but her CAAs were Kawasaki-like CAAs. Learning objective A timely precise diagnosis of acute myocardial infarction is unlikely to be made in children because they are rare. The present patient was initially misdiagnosed as having acute myocarditis, because the coronary arteries could not be detected by two-dimensional echocardiography. Either computed tomographic angiography or magnetic resonance angiography is recommended in patients with ST-T abnormalities on the electrocardiogram if it is difficult to identify the coronary arteries. In this case, the patient had a rare coronary artery disease in which the cause of the coronary artery aneurysms was unknown.

BACKGROUND Pregnant women with a Fontan circulation have a high risk of obstetric complications, such as preterm delivery and small for gestational age (SGA), which may be affected by low blood flow to the placenta and hypoxia. This study investigated placental pathology in a Fontan circulation.Methods and Results:Eighteen pregnancies in 11 women with a Fontan circulation were reviewed. Pregnancy outcomes showed 9 miscarriages and 9 live births, with 4 preterm deliveries. Five neonates were SGA (

OBJECTIVES The present study was conducted to investigate the decrease in left ventricular stroke volume index (LVSVI) that is caused by pulmonary regurgitation-induced right heart dysfunction and its clinical implications before and after pulmonary valve replacement (PVR). METHODS Between January 2010 and December 2019, 30 adults who underwent surgical PVR for chronic pulmonary regurgitation with right ventricular dilation late after tetralogy of Fallot (TOF) repair were included. All patients were evaluated using cardiac magnetic resonance before PVR. The median interval from TOF repair to PVR was 29 [25th, 75th percentile: 25, 37] years. The median pulmonary regurgitation fraction and right ventricular end-diastolic volume index were 56 [48, 66] % and 203 [187, 239] ml/m2. Twenty-three patients (76.7%) were re-evaluated 1 year after PVR. RESULTS Before PVR, the median LVSVI was 40 [35, 46] ml/beat/m2. A lower LVSVI was associated with a longer interval from TOF repair to PVR (r = −0.40, P = 0.029) and a lower right ventricular ejection fraction (r = 0.52, P = 0.004). A lower LVSVI was not associated with a higher right ventricular end-diastolic volume index. LVSVI remained unchanged after PVR. The patients were subdivided into Normal-stroke volume index (SVI) and Subnormal-SVI groups using the preoperative LVSVI cut-off value of 35 mL/beat/m2. Compared with the Normal-SVI group, the Subnormal-SVI group had a higher incidence of ablation therapy before PVR (4.7 vs 2.3 patient-years, P = 0.044). After PVR, LVSVI in the Subnormal-SVI group was still lower (40 [34, 42] vs 44 [42, 47] ml/beat/m2, P = 0.038) despite the right ventricular end-diastolic volume index normalization. There was no difference in the clinical event incidence between the 2 groups during the follow-up period. Brain natriuretic peptide level in the Subnormal-SVI group was higher within 3 years after PVR (P = 0.046). CONCLUSIONS Reduced left ventricular stroke volume did not fully recover after PVR. PVR for patients with repaired TOF should be performed before the left ventricular stroke volume begins to decrease.

Failed Fontan Patients with high cardiac output (CO) heart failure (HF) might have vasodilatory syndrome and markedly high mortality rates. The aim of this study was to review the clinical effects of vasoconstrictor therapy (VCT) for failed Fontan hemodynamics. We retrospectively reviewed 10 consecutive patients with Fontan failure (median age, 33 years) and high CO–HF who had received VCT. The hemodynamics were characterized by high central venous pressure (CVP: median, 16 mm Hg), low systolic blood pressure (median, 83 mm Hg), low systemic vascular resistance (median, 8.8 U·m2), high cardiac index (median, 4.6 L/min/m2), and low arterial oxygen saturation (median, 89%). VCT included intravenous noradrenaline infusion for five unstable patients, oral midodrine administration for nine stable patients, and both for four patients. After VCT introduction with a median interval of 1.7 months, the median systolic blood pressure (102 mm Hg, p = 0.004), arterial oxygen saturation (90%, p = 0.03), and systemic vascular resistance (12.1 U·m2, p = 0.13) increased without significant changes in CVP or cardiac index. After a median follow-up of 21 months, the number of readmissions per year decreased from 4 (1–11) to 1 (0–9) (p = 0.25), and there were no VCT-related complications; however, five patients (50%) developed hepatic encephalopathy, and six patients (60%) eventually died. VCT was safely introduced and could prevent the rapidly deteriorating Fontan hemodynamics. VCT could be an effective therapeutic strategy for failed Fontan patients with high CO–HF.

Background Congenital heart disease (CHD) is often diagnosed prenatally using fetal echocardiography, but few studies have evaluated the accuracy of these fetal cardiac diagnoses in detail. We investigated the discrepancy between pre- and postnatal diagnoses of CHD and the impact of discrepant diagnoses.Methods and Results:This retrospective study at a tertiary institution included data from the medical records of 207 neonates with prenatally diagnosed CHD admitted to the cardiac neonatal intensive care unit between January 2011 and December 2016. Pre- and postnatal diagnoses of CHD differed in 12% of neonates. Coarctation of the aorta and ventricular septal defects were the most frequent causes of discrepant diagnosis. Unexpected treatments were added to 38% of discrepant diagnostic cases. However, discrepant diagnoses did not adversely affect the clinical course. The 9% of the 207 neonates who required invasive intervention within 24 h of delivery were accurately diagnosed prenatally. Conclusions Pre- and postnatal diagnoses differed in only a few neonates, with differences not adversely affecting the clinical course. Neonates who required invasive intervention immediately after delivery were accurately diagnosed prenatally. Prenatal diagnosis thus seems to contribute to improved prognosis in neonates with CHD.

Background A stiffened, dilated ascending aorta may represent an important predictor of cardiovascular mortality, and has been reported in patients with congenital heart disease, including single ventricle. However, the serial conformational changes and determinants of reduced distensibility in ascending aorta have not been clarified. Methods This retrospective study investigated 115 postoperative Fontan survivors (median age at Fontan: 3.7 years). All patients underwent cardiac catheterization before and 1, 5, 10, and 15 years after the Fontan operation. We measured Z-scores for diameters and stiffness indexes (β) of the ascending aorta and descending aorta from angiograms. We also reviewed the clinical profiles, hemodynamic parameters, and exercise capacities of patients and compared them with results from 47 control subjects. Results Fontan survivors displayed significantly larger Z-score and β of the ascending aorta from before to 15 years after surgery than controls, whereas values for the descending aorta were comparable. Z-score for the ascending aorta was decreased, but β was elevated significantly according to the trend test. In multivariable analysis, β of the ascending aorta at 15 years after Fontan operation and its increasing trend were associated with older age at Fontan operation and elevated ventricular end-diastolic pressure. Reduced exercise capacity also correlated with stiffening of the ascending aorta. Conclusions Fontan survivors showed progressive stiffening and relatively slow growth of the dilated ascending aorta. Progressive stiffening of the ascending aorta may be coupled to diastolic dysfunction and reduced exercise capacity, suggesting the importance of lifelong management of subclinical Fontan pathophysiology.

Several studies have reported aortic dilation and increased stiffness of the ascending aorta in patients after repair of congenital heart disease (CHD), which may be a predominant cardiovascular risk. However, the clinical significance has not been described in detail. In this retrospective study, 175 repaired patients with complex CHD achieving biventricular circulation and age-matched 39 control subjects were reviewed (median age: 14.9 and 15.7 years, respectively). We measured the diameters of the ascending aorta and descending aorta from catheterization angiograms to yield Z-scores and stiffness indexes (β) using diameter fluctuations corresponding to pulsatile pressures. Clinical profile, peak oxygen uptake during the cardiopulmonary exercise test, and incidence of unscheduled hospitalization during follow-up was also reviewed. Compared with controls, patients with complex CHD, except for those with aortic coarctation, exhibited significant dilation and increased stiffness of the aortic root and ascending aorta, but not of the descending aorta. In this CHD population (n = 147, including 112 conotruncal anomalies), exercise capacities correlated independently with the diameter Z-score and stiffness index of the ascending aorta along with the history of repetitive thoracotomies, reduced forced vital capacity, and right ventricular hypertension. During a follow-up period (median 15.6 years), either dilation (Z-score >3.5) or increased stiffness (β >6.0) of the ascending aorta stratified morbidity, but no synergistic impact was detected. In conclusion, in repaired patients with complex CHD, a stiffened and dilated ascending aorta was frequently found, exerting significant adverse impacts on diminished exercise capacity and morbidity.

Background: Assessment of plasma volume status (PVS) is essential for the management of patients with heart failure (HF). We aimed to elucidate the clinical features of PVS in patients with Fontan circulation (FC). Methods: Plasma volume (PV) was measured via pulse dye densitometry (icg-PV) and compared with the calculated PV (c-PV) in 114 patients with FC and 32 with biventricular circulation (BVC). We derived the PVS (%) [{(c-PV－ideal-PV)/ideal-PV} ​× ​100] and elucidated its clinical associations in 275 consecutive patients with FC and 493 with BVC. Results: The c-PV correlated with the icg-PV in FC (r ​= ​0.70) and BVC (r ​= ​0.67) (p ​

Given the rarity of significant first-degree atrioventricular block (AVB) after Occlutech Figulla Flex II atrial septal defect occluder (OFF II, Occlutech International AB, Helsingborg, Sweden) placement, its management and predictors of recovery have not been established. We report a 9-year-old boy who developed significant first-degree AVB a day after OFF II deployment. Thereafter, oral prednisolone was initiated at 1.5 mg/kg/day. On day 2 of steroid treatment, normal sinus rhythm without conduction delays was occasionally observed, while the prolonged PR interval on the exercise stress test was ameliorated. After 5 days of steroid administration, normal sinus rhythm without conduction delays was completely achieved. An increase in the frequency of normal sinus rhythm and the absence of conduction delays on electrocardiogram monitoring and exercise stress test play an important role in predicting recovery from prolonged PR interval. Thus, steroid treatment can be effective and should be considered for patients who develop first-degree AVB after undergoing OFF II placement for transcatheter device closure of atrial septal defect.

Objectives: Despite the high prevalence of menstrual problems (MPs), their associations with hemodynamics and their prognostic value in women with congenital heart disease (WCHD) remain unknown. Methods: We retrospectively evaluated characteristics related to menstruation (age at menarche, menstrual cycle, and menstrual blood loss) in 143 consecutive WCHD, and investigated the associations of these characteristics with hemodynamics and prognosis. Results: A total of 132 WCHD were analyzed after excluding 11 patients in menopause. Diagnoses of abnormal onset of menarche (delayed menarche or primary amenorrhea) (AOM) and menstrual cycle disorders (MCDs) were made in 11 (8.3%) and 64 (48.5%) patients, respectively. Cyanotic CHD, non-left systemic ventricle, multiple surgeries before menarche, and high central venous pressure (CVP) during puberty (≥13 ​mmHg) were associated with AOM (p ​

Background Although breastfeeding can cause an increase in the maternal cardiac load, little is known about how it affects the postpartum clinical course among women with congenital heart disease (CHD). The aim of this study was to evaluate whether breastfeeding affects the incidence of postpartum cardiovascular events and the levels of brain natriuretic peptide (BNP) among mothers with CHD. Methods A review of 153 pregnancies in 153 women with CHD was conducted. Postpartum outcomes, including late postpartum cardiovascular events and BNP levels, were analysed by breastfeeding status. Results Ninety-three were primarily breastfeeding (the breastfed-group) and 60 were primarily formula feeding (the formula-group). The formula-group had a significantly higher rate of women with severe conditions, defined as class II-III and III of the modified World Health Organization (WHO) classification of maternal cardiovascular risk, than the breastfed-group (p = 0.03). Late postpartum cardiovascular events occurred in 11 women and not feeding status, but medication use, was the only correlated factor for the events in multivariate analysis. The values of BNP in the third trimester (29.2 pg/mL vs 32.8 pg/mL; p = 0.15) and at one-month postpartum (23.7 pg/mL vs 24.9 pg/mL; p = 0.26) were not statistically different between the breastfed-group and the formula-group. Even when limited to women with the modified WHO class III disease, BNP values were not significantly different between the two groups. Conclusions Among postpartum women with CHD, the cardiovascular event rates and BNP values may not be affected by feeding status, but mostly by disease severity.

To predict the prognosis of infants with congenital heart disease, accurate prenatal diagnosis of structural abnormality and heart failure are both necessary. The aim of this study was to investigate whether cardiovascular profile (CVP) and biophysical profile (BP) scores are useful for predicting prognosis in infants with congenital heart defect (CHD).A retrospective review of singletons prenatally diagnosed with CHD at a tertiary pediatric cardiac center between 2011 and 2015 was undertaken.A total of 202 patients with CHD were analyzed. Perinatal and infant deaths occurred in 16 (7.9%) and 10 cases (5.0%), respectively. Infants with the last CVP score ≤ 5 had 18.7-fold higher perinatal mortality than those with a last CVP score 5 (P 0.01). Infants with a last BP score ≤ 6 had 18.7-fold higher perinatal mortality than those with a last BP score 6 (P 0.01). Infants with a CVP score decrease in utero had 4.5-fold higher infant mortality than those with an increase or no change (P 0.01). Multivariate analysis showed that single-ventricle physiology, pre-term birth at37 weeks of gestation, last CVP score ≤ 5, and last BP score ≤ 6 were independent predictors of perinatal mortality. Single-ventricle physiology and a CVP score decrease were independent predictors of infant mortality.CVP and BP scores are useful for predicting perinatal prognosis in infants with CHD. A CVP score decrease in utero is associated with infant mortality, suggesting that serial CVP score assessment may be useful for management planning.

OBJECTIVESTo review the long-term surgical outcomes of ventricular septation for double-inlet left ventricle and reconsider the possibility of ventricular septation as an option of surgical treatments.METHODSBetween 1978 and 1994, 22 patients with double-inlet left ventricle underwent ventricular septation. The mean age at operation was 5.3 years (range 0–22 years). Follow-up was carried out in 20 of 22 patients (91%) and the mean follow-up period was 14.7 years (range 0–39 years).RESULTSActuarial survival and reoperation-free survival rates at 30 years were 49% and 21%, respectively. To date, 8 patients have been followed up. Among them, atrioventricular valve replacement and permanent pacemaker were required in 4 and 7 patients, respectively. Late cardiac catheter examination at 25.5 years after surgery showed that the median cardiac index was 2.6 l/min/m2 (range 2.1–3.4 l/min/m2), left ventricular end-diastolic pressure was 7 mmHg (range 4–11 mmHg), left ventricular ejection fraction was 50% (range 27–63%), right ventricular ejection fraction was 53% (range 31–66%) and central venous pressure was 6 mmHg (range 4–11 mmHg). At the latest follow-up, the New York Heart Association Functional Classification was I for 5 patients, II for 2 patients and III for 1 patient. The median peak oxygen uptake was 52.9% (range 44.1–93.5%).CONCLUSIONSSome patients with double-inlet left ventricle were able to maintain low central venous pressure and a sufficient cardiac index long after ventricular septation. Although the single ventricle strategy remains a first-line treatment, ventricular septation can be a surgical treatment option.

The frequency of newborns with congenital heart disease (CHD) is approximately 1% in the general population; however, the recurrence rate of CHD in mothers with CHD differs in ethnicity and reports. We therefore aimed to determine the prevalence of CHD among neonates born to mothers with CHD in our institute in Japan. We reviewed the medical charts of 803 neonates delivered by 529 women with CHD at the National Cerebral and Cardiovascular Center from 1982 to 2016. They included isolated ventricular septal defect (VSD,31.4%), isolated atrial septal defect (ASD, 23.3%), tetralogy of Fallot (TOF,10.6%). We defined CHD in neonates as being diagnosed within 1 month of birth. We estimated that the average rate of the CHD recurrence was 3.1%. The recurrence ratios in each maternal CHD were 8.6%, 7.1%, 6.2%, 4.8%, 3.6%, and 1.5% for PS, CoA, TOF, atrioventricular septal defect, VSD, and ASD, respectively. The rate of CHD in offsprings whose mothers have CHD was 3 times greater than that of mothers with healthy hearts. Almost half of neonates with CHD had the same phenotype as their mother in our series. Especially, PS and CoA were closely related to the type of maternal CHD.

Arterial switch operation (ASO) for dextro-transposition of the great arteries (d-TGA) has gradually replaced the atrial switch operation and has become the standard operation. To date, the outcomes of pregnant women with d-TGA after this new operation have not been investigated. In this study, we investigated the impact of ASO on pregnant outcomes and mid-term prognosis in women with d-TGA and compared with the atrial switch operation through the literature review.There were 20 pregnancies in 10 women with d-TGA after ASO and 6 resulted in abortion. Among 14 successful pregnancies in 10 women, 11 pregnancies achieved the term delivery and 3 pregnancies, including 1 twin pregnancy, resulted in preterm labor. Maternal cardiovascular events occurred in 4 (heart failure and arrhythmias in 3 and arrhythmia in 1), and all were controllable with medications. Risk factors for the peripartum cardiac events were older age at ASO and delivery, and higher concentration of brain natriuretic peptide (BNP) at first trimester (p0.05). In 7-60 month-follow-up after delivery, no case showed deterioration of functional class and systemic ventricular function. According to the literature review, women after ASO demonstrated a better prognosis than those after the atrial switch operation.The majority of women with d-TGA after ASO tolerated pregnancy and delivery well. The older age at ASO, an elderly pregnancy, and higher BNP levels at the first trimester were possibly risk factors of peripartum cardiovascular events among the group. The literature reviews and this study may indicate the advantage of systemic left ventricle compared with systemic right ventricle in long-term outcomes after delivery.

Objective: Surgical outcomes of biventricular repair for hearts with hypoplastic left ventricle with congenital mitral valve stenosis are described. Serial changes of left ventricular geometry and clinical features after biventricular repair were reviewed. Methods: Eight patients with hypoplastic left ventricle and congenital mitral valve stenosis who underwent first surgical intervention for biventricular circulation in neonatal or infantile period between 2001 and 2014 comprise the study population. Serial change in left ventricular end-diastolic diameter, left ventricular mass index, and relative wall thickness after biventricular repair were evaluated by two-dimensional echocardiography. Results: The median Z-scores of left ventricular end-diastolic diameter and mitral valve diameter before the first surgical intervention were −3.0 (range, −4.8 to −2.0) and −1.0 (−2.9 to 2.1), respectively. Mitral valves were surgically treated in five patients; they were replaced in two and repaired in three patients. Left ventricular end-diastolic diameter Z-score at five years after biventricular repair was 0.1 (−3.0 to 1.0), which was significantly larger than before first surgical intervention ( P = .005). Left ventricular mass index, on the other hand, did not change, but relative wall thickness significantly decreased ( P = .009). Postoperative catheter study showed pulmonary hypertension with high left ventricular end-diastolic pressure in more than half of survivors. Conclusions: Left ventricle increased in size after the biventricular repair with appropriate mitral valve procedures before progression of pulmonary hypertension. Left ventricular mass, however, did not accompany the increase. Some patients may have suffered from mild, but certain restrictive left ventricular physiology and subsequent pulmonary hypertension as the result of abnormal remodeling process of the myocardium.

OBJECTIVES The aim of this study was to identify the impact of bilateral bidirectional Glenn (BBDG) anastomosis on staged Fontan strategy and late Fontan circulation. METHODS Of 267 patients who underwent bidirectional Glenn prior to Fontan completion between 1989 and 2013, 62 patients (23%) who underwent BBDG were enrolled in this study. Age at operation was 0.84 years (25th–75th percentile: 0.58–1.39). Thirty-three patients had heterotaxy syndrome (53%). The mean follow-up period was 12.7 ± 8.1 (max. 30.6) years. RESULTS The overall survival rate at 15 years was 73%. Although 49 patients (79.0%) went on to Fontan completion, 12 patients (19.4%) died without achieving it. Thrombus formation and poor development in a central pulmonary artery were not observed, but obstruction of the superior vena cava (SVC) occurred in 8 patients (13%), mainly those with right atrial isomerism (P = 0.037). SVC obstruction was not, however, a risk factor for mortality (P = 0.097) or Fontan completion (P = 0.41). The shape of BBDG anastomosis, symmetricity of pulmonary blood flow, impingement of caval blood flow returning from the superior and inferior vena cavae or coexisting interrupted inferior vena cava with azygos or hemi-azygos continuation did not affect late Fontan outcomes, such as overall survival, freedom from protein-losing enteropathy or pulmonary arterio-venous malformation rates. CONCLUSIONS SVC obstruction after BBDG frequently occurred, mainly in patients with right atrial isomerism; however, its direct impact on prognosis or achieving Fontan completion was not identified. Once Fontan circulation was established, the arrangement of the Fontan pathway did not affect late Fontan outcomes.

Background Liver cancer (LC) is a serious late complication after the Fontan operation. However, the incidence, predictors, and prognosis remain unknown. The purpose of our study was to determine these clinical characteristics. Methods and Results We assessed liver function in 339 consecutive patients who had undergone the Fontan procedure from 2005 to 2019. LC was histologically diagnosed in 10 patients after a median period of 2.9 years (range: 0.3–13.8; median age: 29.9 years [range: 14.4–41.5 years]; overall median post–Fontan procedure follow‐up: 25.6 years [range: 13–32.1 years]), and the annual incidence was 0.89%. Over the entire post‐Fontan follow‐up period, the annual incidences of new‐onset LC in the second, third, and fourth decades were 0.14%, 0.43%, and 8.83%, respectively. The patients with LC had longer follow‐up periods, higher levels of AFP (α‐fetoprotein), and higher values of liver fibrosis indices ( P P P Conclusions The LC incidence rapidly increased ≥30 years after the Fontan procedure, and liver fibrosis indices and AFP were predictive of new‐onset LC. These LC‐predictive markers should be monitored closely and mandatorily for early LC detection and better prognosis.

The study aimed to assess the long-term outcomes after fenestration closure in patients at risk for Fontan failure. Of 119 patients who underwent Fontan operation between 1995 and 2004, fenestration was not created in 89 patients (NF group) and created in 30 patients with hypoplastic left heart syndrome, heterotaxy syndrome, high pulmonary arterial pressure, high systemic ventricular end-diastolic pressure, low ventricular ejection fraction, or atrioventricular valve regurgitation. All fenestrations were closed spontaneously or by catheter/surgical interventions, excepting two patients, and therefore, they were excluded. In fenestration group, patients with pre-Fontan mean pulmonary arterial pressure ≥ 15 mmHg or systemic atrioventricular valve regurgitation ≥ moderate were classified as high-risk Fontan candidates (F-HR group, n = 16), and the remaining patients were as standard-risk (F-SR group, n = 12). Protein-losing enteropathy-free survival rates did not differ among the three groups (p = 0.72). Serial follow-up catheter examinations after Fontan operation were completed in 69 patients in NF group and 11 patients in both F-SR and F-HR groups. Cardiac index and pulmonary vascular resistance significantly and similarly decreased over time in all groups, though the F-HR group showed lowest arterial oxygen saturation, lowest cardiac index, and highest pulmonary vascular resistance. The F-HR group also showed much veno-venous collaterals (p = 0.049), low peak oxygen consumption (p = 0.019), and low anaerobic threshold (p = 0.023) as compared to those in the F-SR group. In F-HR group, cyanosis remained after fenestration closure due to transformation from fenestration to veno-venous collaterals, which resulted in elevation of pulmonary vascular resistance, low cardiac index, and deterioration of exercise tolerance.

Background: Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it is associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate the ion channel genetic landscape of LVNC and identify genotype-phenotype correlations in a large Japanese cohort. Methods: We enrolled 206 children with LVNC from 2002 to 2017 in Japan. LVNC was classified as follows: LVNC with congenital heart defects, arrhythmia, dilated phenotype, or normal function. In the enrolled patients, 182 genes associated with cardiomyopathy were screened using next-generation sequencing. Results: We identified 99 pathogenic variants in 40 genes in 87 patients. Of the pathogenic variants, 8.8% were in genes associated with channelopathies, 27% were in sarcomere genes, and 11.5% were in mitochondrial genes. Ion channel gene variants were mostly associated with the arrhythmia classification, whereas sarcomere and mitochondrial gene variants were associated with the dilated phenotype. Echocardiography revealed that the group with ion channel gene variants had almost normal LV ejection fraction and LV diastolic diameter Z scores. Fragmented QRS, old age, and an arrhythmia phenotype were the most significant risk factors for ventricular tachycardia ( P =0.165, 0.0428, and 0.0074, respectively). Moreover, the group with ion channel variants exhibited a greater risk of a higher prevalence of arrhythmias such as ventricular tachycardia, rather than congestive heart failure. Conclusions: This is the first study that focused on genotype-phenotype correlations in a large pediatric LVNC patient cohort with ion channel gene variants that were determined using next-generation sequencing. Ion channel gene variants were strongly correlated with arrhythmia phenotypes. Genetic testing and phenotype specification allow for appropriate medical management of specific LVNC targets.

Background Left ventricular noncompaction (LVNC) is a hereditary cardiomyopathy, associated with high morbidity and mortality, but the role of genetics in cases of fetal-onset has not been fully evaluated. The goal of this study was to identify the genetic background in LVNC fetal-onset patients using next-generation sequencing (NGS). Methods Thirty-three fetal-onset Japanese probands with LVNC (20 males and 13 females) were enrolled. In the enrolled patients, 81 genes associated with cardiomyopathy were screened using next-generation sequencing (NGS) retrospectively. Results Twenty-three patients had congestive heart failure (CHF), and six patients had arrhythmias. Prominent trabeculations were mostly observed in lateral LV, posterior LV, and apex of LV in patients with LVNC. Twelve died; three patients experienced intrauterine death or termination of pregnancy. Overall, 15 variants were found among eight genes in 16 patients. Seven variants were detected in MYH7 and two in TPM1. Sarcomere gene variants accounted for 75.0%. A multivariable proportional hazards model revealed that CHF at diagnosis and a higher ratio of the noncompacted layer/compacted layer in the LV posterior wall were independent risk factors for death in LVNC fetal-onset patients (odds ratio = 4.26 × 106 and 1.36 × 108, p = 0.0075 and 0.0005, respectively). Conclusions The present study is the first report focusing on genetic background combined with clinical features in LVNC fetal-onset patients using NGS. Sarcomere variants were most commonly identified in fetal-onset patients, and greater attention should be paid to fetal-onset patients with LVNC having prominent trabeculations in the LV because they are more likely to develop CHF.

To clarify ventricular function in patients with asymptomatic coronary artery occlusion (ACAO) after Kawasaki disease (KD).Methods and Results:We enrolled 65 patients with coronary artery lesions who had undergone cardiac magnetic resonance (CMR). Median age at CMR was 29 years. CMR was performed to evaluate only the transmural extent of late gadolinium enhancement (LGE) and ejection fraction (EF). Based on the depth of LGE, it was classified into 5 groups: 0% (G0), 1-25% (G1), 26-50% (G2), 51-75% (G3), and 76-100% (G4). We investigated the relationship of the degree of LGE and EF. Further, we also evaluated the EF among 3 groups [ACAO, myocardial infarction (MI), and noncoronary artery occlusion (Non-CO)]. The grade of LGE and the LVEF (mean±SD, %) were as follows: G0 (n=24, 52.6±4.8), G1 (n=13, 50.8±4.4), G2 (n=15, 49.1±5.6), G3 (n=9, 30.9±9.1), and G4 (n=9, 27.7±6.8). LVEF in patients with G3 and G4 was significantly low (P0.05). LVEF (%) in patients with ACAO, MI, and Non-CO were 50.5±4.8 (n=38), 33.6±10.8 (n=17), and 53.0±5.7 (n=10), respectively. LVEF in the MI group was significantly low (P0.0001).LGE50% can lead to LV dysfunction. The transmural extent of LGE in most of the study patients with ACAO was ≤50% and they had subendocardial infarction, with preserved LV function.

Electrical disparity can induce inefficient cardiac performance, representing an uncoordinated wall motion at an earlier activated ventricular wall: an early shortening followed by a systolic rebound stretch. Although regional contractility and distensibility modulate this pathological motion, the effect of a morphological factor has not been emphasized. Our strain analysis in 62 patients with single ventricle revealed that those with an activation delay in 60–70% of ventricular wall area suffered from cardiac dysfunction and mechanical discoordination along with prolonged QRS duration. A computational simulation with a two-compartment ventricular model also suggested that the ventricle with an activation delay in 70% of the total volume was most vulnerable to a large activation delay, accompanied by an uncoordinated motion at an earlier activated wall. Taken together, the ratio of the delayed ventricular wall has a significant impact on the pathophysiology due to an activation delay, potentially highlighting an indicator of cardiac dysfunction.

Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disorder that causes refractory nasal bleeding, arteriovenous malformations in the lung (pulmonary arteriovenous fistula: PAVF), central nervous system (CNS-AVF), and liver (hepatic AVF). HHT is caused by genetic abnormalities in endoglin (ENG), ACVRL1 (ALK1), and other rare genes (e.g., SMAD4). The relationship between these gene mutations and the affected organs remains unclear.

Objectives The objective of this study was to assess the utility of 3D printed heart models of congenital heart disease for preoperative surgical simulation. Methods Twenty patient-specific 3D models were created between March 2015 and August 2017. All operations were performed by a young consultant surgeon who had no prior experience with complex biventricular repair. All 15 patients with balanced ventricles had outflow tract malformations (double-outlet right ventricle in 7 patients, congenitally corrected transposition of great arteries in 5, transposition of great arteries in 1, interrupted aortic arch Type B in 1, tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries in 1). One patient had hypoplastic left heart complex, and the remaining 4 patients had a functional single ventricle. The median age at operation was 1.4 (range 0.1-5.9) years. Based on a multislice computed tomography data set, the 3D models were made of polyurethane resins using stereolithography as the printing technology and vacuum casting as the manufacturing method. Results All but 4 patients with a functional single ventricle underwent complete biventricular repair. The median cardiopulmonary bypass time and aortic cross-clamp time were 345 (110-570) min and 114 (35-293) min, respectively. During the median follow-up period of 1.3 (0.1-2.5) years, no mortality was observed. None of the patients experienced surgical heart block or systemic ventricular outflow tract obstruction. Conclusions Three-dimensional printed heart models showed potential utility, especially in understanding the relationship between intraventricular communications and great vessels, as well as in simulation for creating intracardiac pathways.

For neonates with right atrial isomerism (RAI), functional single ventricle (f-SV), and obstructive total anomalous pulmonary venous connection (TAPVC), primary TAPVC repair (TAPVCR) has a poor outcome. At our hospital, the survival rate at 1 year of such neonates undergoing primary TAPVCR between 1999 and 2010 (TAPVCR group) was 30% (3/10). Most deceased cases suffered from capillary leak syndrome and unstable pulmonary resistance after the surgeries. We sought to determine whether less invasive primary draining vein stenting (DVS) improved the outcome of these neonates. We investigated outcomes in consecutive nine such neonates (median gestational age 38 weeks, birth weight 2.8 kg, females 4) who underwent primary DVS with 6-mm-diameter Palmaz® Genesis® stents at our hospital between 2007 and 2017 (DVS group). Eight patients underwent subsequent surgeries to adjust the pulmonary flow after decreased pulmonary resistance. The survival rate at 1 year after the first interventions in the DVS group improved to 77% (7/9), although there was a difference between the interventional eras of the two groups. Of the seven patients who underwent multiple stent redilations with a larger balloon or additional stenting in other sites until the next stage of surgery at a median age of 8 months, four received a bidirectional Glenn (BDG) shunt and TAPVCR and three underwent TAPVCR, with two of those cases reaching BDG. Less invasive primary DVS improved the outcome of neonates with RAI, f-SV, and obstructive TAPVC, with many reaching BDG. Patient selection to advance toward Fontan is thought to further improve the outcome.

Background Heart failure (HF) is an important complication in adults with congenital heart disease (CHD), but because only a few studies have focused on acute HF hospitalization in adults with CHD, we study aimed to define the clinical characteristics of such patients and examine the differences in acute HF between adults with CHD and acquired heart disease.Methods and Results:We retrospectively evaluated 50 adults with CHD admitted for treatment of acute HF and compared their data with those from Japanese HF registries. Patient mean age was 37±15 years and 58% were male. In total, 86% of the patients had complex forms of CHD and 62% had undergone corrective surgery, including the Fontan procedure; 66% of patients showed right heart hemodynamic abnormality. In-hospital mortality was 4%, which was comparable to the Japanese HF registries. Survival rate was 93% at 1 year and 75% at 3 years, which was similarly poor to the rates of HF secondary to acquired heart disease. Conclusions We clarified the clinical characteristics of adults with CHD requiring HF hospitalization. Young adults with complex CHD were hospitalized for management of acute right HF. Short-term and mid-term outcomes were similarly poor compared with acute HF secondary to acquired heart disease.

Objective To review long-term respiratory outcomes for tetralogy of Fallot and absent pulmonary valve (TOF/APV) in respiratory symptomatic populations. Methods Of 25 consecutive patients undergoing primary total correction for TOF/APV between 1987 and 2016, Sixteen patients (64%) with a preoperative respiratory disturbance were enrolled. The median age at operation was 1.9 months old, including 4 neonates and 12 infants. Ten patients (62.5%) preoperatively necessitated mechanical ventilator support. During operation, dilated central pulmonary arteries (cPAs) were plicated and retracted anteriorly in all patients, except for the first patient of the study cohort. VSD was completely closed, and the right ventricular outflow tract was reconstructed with a handmade valved conduit before 1990, or a transannular patch with a handmade monocusp after 1991. Results The actuarial survival rate at 20 years was 86.7%. One patient without cPAs plication and another requiring mechanical ventilator support right after his delivery died. The median duration of postoperative mechanical ventilator support was 14 days (range, 1–183). Readmission for respiratory disturbance after discharge was frequently observed before five years of age, however, no patients were readmitted to the hospital after six years of age, during the median follow-up period of 14.7 years, with a maximum of 27.2 years. Although persistent dilatation of cPAs was common, respiratory symptoms never recurred. Conclusions Prognostic and respiratory outcomes after primary total correction for TOF/APV in respiratory symptomatic populations were good. Successful relief of tracheal/main bronchial compression by primary total correction at the neonatal or infantile period provided delayed, but nonrecurrent improvement of respiratory disturbances.

Background In biventricular physiology, abnormal septal motion is a hallmark of mechanical dyssynchrony in the left bundle branch block. However, in single-ventricle (SV) physiology, morphologic variations in systemic ventricles pose a challenge in evaluating the negative impact of mechanical dyssynchrony. The present study aimed to characterize the pathologic dyssynchronous contraction patterns in patients with SV. Methods In this retrospective study, 70 consecutive postoperative patients with SV anatomy with prolonged QRS duration (25 female patients; median age, 14 years) were enrolled. We divided each SV into two regions and analyzed independent strains using two-dimensional speckle-tracking echocardiography. From an earlier activated ventricular wall, we calculated the strain ratio (Rstrains) of two values (%) during the QRS period and the ejection period: (100 + Strainejection)/(100 + StrainQRS). We reviewed the clinical profiles, B-type natriuretic peptide plasma levels, exercise capacity, and morbidity. Six patients who underwent cardiac resynchronization therapy (CRT) were analyzed regarding changes in strain patterns and ventricular volume. Results Higher Rstrains, indicating a preceding contraction and subsequent dyskinetic dilation of the earlier activated ventricular wall, was associated with increased B-type natriuretic peptide, reduced exercise capacity, and poor outcome. However, delayed contraction of the later activated ventricular wall was not associated with the effects. Decreases in Rstrains and ventricular volume reductions were observed in all patients after CRT. Conclusions A specific strain pattern in an earlier activated ventricular wall indicates mechanical dyssynchrony in patients with SV. This pattern is very similar to the septal flash in adult patients with left bundle branch block. This strategy might be a promising approach for selecting appropriate candidates for CRT in patients with SV.

A patient was born with truncus arteriosus type 2, left aortic arch, anomalous origin of arch vessels, left coronary artery from the right common carotid artery, and multiple extracardiac anomalies. Surgery involving translocation of the left coronary artery to the truncal root, division of branch pulmonary arteries from the truncal artery, and right ventricle-to-branch pulmonary arteries conduit placement was performed at the age of four months. Closure of the ventricular septal defect using a one-way fenestrated patch and conduit upsizing was performed successfully when the patient reached four years of age.

OBJECTIVES Our goal was to assess the efficacy of managing pulmonary blood flow from the Norwood procedure with a right ventricle-to-pulmonary artery (RV–PA) conduit until stage 2 palliation (S2P). METHODS Among 48 consecutive patients undergoing the Norwood procedure between 2008 and 2018, 40 (83.3%) patients who survived to discharge were included in this study. The primary diagnosis was hypoplastic left heart syndrome in 28 (70%) patients and hypoplastic left heart syndrome variant in 12 (30%) patients. All patients received bilateral pulmonary artery banding. The median age and weight at the time of the Norwood procedure were 41 (25th–75th percentiles: 27–89) days and 3.2 (2.7–3.9) kg, respectively. In keeping with institutional strategy, S2P was undertaken when body weight exceeded 5.0 kg, and normal gross motor development was confirmed. RESULTS The RV–PA conduit was clipped in 28 (70%) patients during the perioperative period of the Norwood procedure, then partial unclipping was performed in 8 (20%) patients and full unclipping was performed in 20 (50%) patients. Before S2P, the median pulmonary-to-systemic blood flow ratio was 1.0 (0.7–1.3). The median age and weight at the time of S2P were 10.7 (9.0–12.9) months and 6.3 (5.5–7.1) kg, respectively. The survival rate 5 years after Norwood discharge was 85.3%. Pre-S2P pulmonary-to-systemic blood flow ratio was linearly correlated with greater interstage changes in systemic atrioventricular valve regurgitation (R2 = 0.223, P = 0.004). CONCLUSIONS Interstage management of pulmonary blood flow by RV–PA conduit clipping and gradual unclipping provided good interstage outcomes. The median pulmonary-to-systemic blood flow ratio could be controlled to 1.0 at pre-S2P catheter examination.

OBJECTIVES The aim of this study was to identify the long-term therapeutic effect of total cavopulmonary connection (TCPC) conversion with an extracardiac conduit. METHODS Between 1991 and 2014, 36 patients underwent TCPC conversion with an extracardiac conduit. Half of these patients were diagnosed with tricuspid atresia or its variant. The left ventricle was dominant in 26 patients (72.2%). Median age at conversion and interval from initial Fontan operation to conversion were 24.1 years (interquartile range 18.9–29.2) and 17.8 years (15.4–20.9), respectively. Surgical cryoablation was concomitantly performed in 32 patients (88.9%). Cardiac catheter examination was performed preoperatively (36 patients, 100%) and at 1 year (31 patients, 86%), 5 years (25 patients, 69%) and 10 years (13 patients, 36%) after TCPC conversion. Symptom-limited treadmill exercise with expired gas analysis was performed preoperatively (32 patients, 88.9%) and at 1 year (27 patients, 75.0%), 5 years (20 patients, 55.6%) and 10 years (12 patients, 33.3%) after conversion. RESULTS All patients received follow-up; the mean follow-up period was 8.2 ± 4.8 years. Actuarial survival rate, protein-losing enteropathy-free survival rate and rate of survival with sinus rhythm maintenance at 10 years were 79.2%, 67.8% and 48.5%, respectively. The survival curve declined steeply when the duration of Fontan circulation exceeded 25 years. New cases of protein-losing enteropathy developed postoperatively in 2 patients. Permanent pacemakers were implanted in 12 patients (33%), but atrial tachyarrhythmia was not sustained in any of the remaining patients. Pulmonary arterial pressure (11.0 ± 3.1 to 9.5 ± 3.6 mmHg, P = 0.003), pulmonary vascular resistance (2.1 ± 0.7 to 1.3 ± 0.5 WU/m2, P CONCLUSIONS Owing to its anti-arrhythmic effect and Fontan pathway recruitment effect, TCPC conversion with an extracardiac conduit prevented the natural decline of exercise tolerance that is seen in classic Fontan patients.

Fontan patients exhibit a high prevalence of abnormal glucose metabolism (AGM). We aimed to characterize AGM and clarify its association with Fontan pathophysiology.We prospectively evaluated AGM with plasma glucose dynamics [mg/dL; fasting glucose (FPG), and maximum glucose increase (PG-spike)] during oral glucose tolerance test and hemoglobin A1c (HbA1c) in 276 consecutive Fontan patients (aged 19 ± 7 years). Of these, 176 patients had serial AGM assessments with a mean interval of 6.5 years.Initial analysis revealed a high prevalence of impaired glucose tolerance (38.4%) and diabetes mellitus (DM) (4.7%), and positive family history, high HbA1c, and high central venous pressure independently predicted presence of DM. HbA1c was independently determined by hypersplenism and presence of DM (P .05). Serial assessments revealed an increased PG-spike and a decreased HbA1c (P .001 for both). Prevalence of DM increased (6.3% to 10.3%), and positive family history, high liver enzymes, and AGM predicted new onset of DM (P .05 for all). Twenty-one patients died during 7.1-year follow-up. FPG (P .01) and PG-spike (P .05) independently predicted all-cause mortality. Particularly, patients with FPG ≤ 74 and/or PG-spike ≥85 had a mortality rate 8.7 times higher than those without (P = .0129).AGM progressed even in young adult Fontan patients, and HbA1c showed limited predictive value for progression. Oral glucose tolerance test plays important roles in uncovering unique Fontan AGM as well as predicting all-cause mortality.

To evaluate the significance of natriuretic peptide (NP) levels in fetal arrhythmia. Cardiovascular profile (CVP) scores and umbilical vein (UV) NP levels at birth were compared by different fetal arrhythmia statuses. Fetal tachyarrhythmia (n = 22), bradyarrhythmia (n = 12), extrasystole (n = 12) and controls (n = 127) were enrolled in this study. Fetal antiarrhythmic therapy was performed in fetuses with tachyarrhythmia (n = 18) and bradyarrhythmia (n = 5). Fetal arrhythmias were divided into three groups: group A (arrhythmia controlled at birth, n = 17), Group B (arrhythmia uncontrolled at birth, n = 9) and Group C (fetal therapy not indicated, n = 20). Group B had significantly lower CVP scores and higher NP levels than the other two groups and controls (p UV NP concentrations reflect the severity of fetal arrhythmia and responses to fetal therapy.

This study reviewed early clinical outcomes of right ventricular outflow tract reconstruction with Contegra® valved conduits in pediatric patients. Between April 2013 and July 2014, thirteen pediatric patients underwent right ventricular outflow tract reconstruction with Contegra valved conduits. The size of the implanted conduits were 12 mm in 5 patients, 14 mm in 3, 16 mm in 3, and then 2 patients were implanted with bicuspidized conduits for downsizing the conduit to 9 and 10 mm in each. Follow-ups were completed in all patients. One conduit was explanted 7 days after a neonatal biventricular repair for Ebstein's anomaly and pulmonary atresia, timed to be at the point of conversion to a single ventricular palliation. Among the 5 patients who developed significant pulmonary insufficiency and/or conduit stenosis, 3 patients exhibited persistent pulmonary hypertension. Both the bicuspidized conduits resulted in early pulmonary insufficiency. One patient implanted with a ring-supported conduit developed coronary artery stenosis, caused by suppression between the ring of the implanted conduit and the annulus of the mechanical vale. Although the small caliber Contegra valved conduit might be an alternative to RVOT reconstruction, the indication should be carefully considered. More than mild pulmonary hypertension, and low body weight at operation of less than 3.0 kg caused early conduit dysfunction.

Background Outcomes of surgical intervention for severe tricuspid regurgitation related to Ebstein anomaly or tricuspid valve dysplasia in the neonatal period, particularly when associated with pulmonary atresia, are extremely poor. However, owing to emerging innovative surgical techniques, such as cone reconstruction, outcomes of tricuspid valve plasty in the neonatal period have gradually improved. Methods The study retrospectively reviewed the medical records of 12 neonates who were diagnosed with severe tricuspid regurgitation and pulmonary atresia related to Ebstein anomaly (n = 9) or isolated tricuspid valve dysplasia (n = 3) between 2000 and 2013. Results The first 6 patients underwent palliative therapy in anticipation of future functional single-ventricle palliation (Starnes operation). Biventricular repair was performed in the 6 patients born after 2012. As tricuspid valve plasty, cone reconstruction has been applied since 2013. Five patients underwent a Starnes operation, and 5 patients underwent biventricular repair, including 4 cone reconstructions. Four of the 5 patients who underwent a Starnes operation died in-hospital; the remaining patient underwent a Fontan operation at age 2 years. Three of the 5 patients who underwent biventricular repair survived. On echocardiogram, the 3 survivors who were treated with biventricular repair had a preoperative tricuspid regurgitation flow velocity greater than 3.0 m/s. Conclusions Biventricular repair with cone reconstruction can be applied for severe tricuspid regurgitation due to neonatal Ebstein anomaly or tricuspid valve dysplasia with associated pulmonary atresia. A tricuspid regurgitation flow velocity greater than 3.0 m/s may be an indicator of successful biventricular repair.

The effect of pregnancy on aortic root in women with repaired conotruncal anomalies (CTA) has not been clarified. This study examined aortic diameters during and after pregnancy in women with repaired CTA. A retrospective review of consecutive pregnant women with repaired CTA was performed for results of echocardiography from 1 year before pregnancy to 3 years after delivery and compared with findings from healthy pregnant volunteers. Participants comprised 42 subjects and 49 deliveries with repaired CTA (CTA group), and 47 healthy pregnant women (control group). Although no maternal aortic events were encountered, aortic diameters during pregnancy increased by 1.0 ± 2.2 mm (maximum, 7.0 mm) in the CTA group and 0.6 ± 1.3 mm (maximum, 3.4 mm) in the control group (p = 0.13). The CTA subgroup with increase in aortic diameter ≥ 3.5 mm during pregnancy showed no reversion to baseline diameter at follow-up > 6 months after delivery. Significant risk factors for increased aortic diameter and no reversal included pulmonary atresia, history of aortopulmonary shunt, older age at repair, and smaller left ventricular end-diastolic diameter pre-pregnancy. Women with repaired CTA tolerated pregnancy and delivery well. However, the aortic root progressively dilated during pregnancy and 1/4 of them, especially those with longstanding high aortic blood flow before repair, showed an increase of aortic root size of ≥ 3.5 mm during the peripartum period; this dilatation tended not to revert to the pre-pregnancy diameter. Therefore, serial measurement of the aortic root during pregnancy and after delivery is recommended in these women.

A massive but asymptomatic left subclavian artery pseudoaneurysm was diagnosed in a 30-year-old female patient with transposition of the great arteries, ventricular septal defect, and pulmonary atresia. After undergoing bilateral modified Blalock–Taussig shunts at the age of 4 months and 3 years, respectively, she underwent the Rastelli operation and division of both shunts at the age of 6 years of age. The pseudoaneurysm was not discovered at the follow-up investigation at age 14. During the time period from age 18 to 30 years, she was lost to follow-up, she was confirmed to be free from infectious disease, traumatic accident, or vasculitis. Pregnancy-induced hypertension was not associated during her pregnancy. Graft replacement of the left subclavian artery and redo right ventricular outflow tract reconstruction were successfully performed under deep hypothermic circulatory arrest at the age of 33 years.

Objective We attempted to evaluate fetal cardiac activity of congenital heart disease (CHD) and normal heart fetuses by magnetic resonance imaging (MRI). Methods We evaluated the fetal cardiac functional assessment and the blood flow of descending aorta at 34 weeks' gestation or more by MRI and compared the results with ultrasonography findings. We measured 6 normal heart fetuses and 14 CHD fetuses. Results The ejection fraction (EF) and descending aorta blood flow in the CHD group were 76.4% ± 11.9%, 687.5 ± 303.8 mL/min by ultrasonography and 48.3% ± 7.1%, 711.4 ± 273.1 mL/min by MRI; those in the normal group were 66.9% ± 12.2%, 898.1 ± 245.9 mL/min by ultrasonography and 51.3% ± 4.2%, 911.9 ± 223.1 mL/min by MRI. Conclusions There was no significant difference in descending aorta blood flow measurements between ultrasonography and MRI, but the EF showed a significant between-group difference. In the normal group, the variation of EF and blood flow measured by MRI was significantly smaller compared with those of ultrasonography.

BACKGROUND We have previously demonstrated that umbilical cord plasma natriuretic peptide (NP) levels reflect the severity of heart failure (HF) in fetuses with congenital heart defects (CHD). The aim of this study was to evaluate the significance of amniotic fluid (AF) NP levels in the assessment of HF in fetuses with CHD or arrhythmia. Methods and Results: This was a prospective observational study at a tertiary pediatric cardiac center. A total of 95 singletons with CHD or arrhythmia, and 96 controls from 2012 to 2015 were analyzed. AF concentrations of atrial NP (ANP), B-type NP (BNP) and N-terminal pro-B-type NP (NT-proBNP) at birth were compared with ultrasonographic assessment of fetal HF using the cardiovascular profile (CVP) score. Multivariate analysis showed that a CVP score ≤5 and preterm birth are independently associated with high AF NT-proBNP levels. AF NT-proBNP levels of fetuses with CHD or arrhythmia inversely correlated with CVP score (P for trend

Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy that is morphologically characterized by a two-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. We present a case report regarding the identification of a new mutation in TNNI3 in a patient with LVNC using next-generation sequencing. A 13-year-old girl who had no family history of cardiac disease was hospitalized with dyspnea after exercise and electrocardiographic abnormalities during a school screening. Based on her clinical features, she was diagnosed with LVNC. Via genetic analysis, a TNNI3 heterozygous missense variant was identified in the proband. Although mutations in TNNI3 have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy, this is the first report of a mutation in this gene in a patient with LVNC.

Fetal cardiac rhabdomyomas are rare but well-known to be associated with arrhythmia or conduction abnormalities. However, since in utero electrophysiological information is quite limited, it remains unclear which type of rhabdomyoma will develop arrhythmia after birth. The aim of this study is to identify factors that predict postnatal arrhythmia requiring therapy in fetuses with cardiac rhabdomyoma.A retrospective review of infants prenatally diagnosed with cardiac rhabdomyoma was performed at our tertiary pediatric cardiac center between 1990 and 2016. Fetal arrhythmia was diagnosed using fetal echocardiography and magnetocardiography. We compared the characteristics of cases with and without antiarrhythmic therapy after birth. Cases without antiarrhythmic therapy after birth consisted of those who had postnatal arrhythmia but did not require antiarrhythmic therapy and those who had no postnatal arrhythmia.A total of 20 fetuses with cardiac rhabdomyoma were included in this study. Ten cases (50%) were confirmed as having tuberous sclerosis after birth. The mean gestational week at diagnosis and delivery were 32.1 ± 2.7 and 37.6 ± 2.8 weeks, respectively. Mean cardiac tumor size in utero was 21 ± 11 mm (range, 7-54 mm) in diameter. Fetal arrhythmia was found in six cases; three resolved in utero with transplacental antiarrhythmic therapy. Postnatal arrhythmia or conduction abnormalities were found in 12 cases; 7 required antiarrhythmic therapy. Cases with antiarrhythmic therapy after birth had larger cardiac tumor in utero than those without therapy (29.6 ± 12.8 mm versus 16.3 ± 5.8 mm, p .01). Cardiac tumor size30 mm in diameter predicted postnatal arrhythmia requiring therapy with sensitivity of 57.1% and specificity of 100%. Location and number of cardiac tumor and presence of arrhythmia or conduction abnormalities in utero were similar between the two groups.Cardiac rhabdomyomas30 mm in diameter are associated with postnatal arrhythmia requiring therapy regardless of number and location.

Background Poor left ventricular (LV) growth and diastolic dysfunction long after simple total anomalous pulmonary venous connection (TAPVC) repair has been well documented and is believed to originate from insufficient preoperative volume preload. The objective of the study was to confirm these findings. Methods Of 61 patients undergoing simple TAPVC repair between 1996 and 2016, 42 patients undergoing postoperative catheter examinations were enrolled. The mean age at the time of repair was 39 ± 117 days. Postoperative catheter examinations were conducted at a mean duration of 1.1 years after the repair. LV end-diastolic volume (LVEDV) was calculated by biplane cineangiography with the use of Simpson's method as a Graham modification. Results LV ejection fraction, LV end-diastolic pressure (LVEDP), and cardiac index were 72% ± 5%, 10.3 ± 2.7 mm Hg, and 4.0 ± 0.7 L •·min−1 • m−2, respectively. LVEDV was 102% ± 16% of the predictive normal value, and it strongly correlated with the predictive normal value of LV end-diastolic diameter (LVEDd) calculated by two-dimensional echocardiography (R2 = 0.29, p = 0.005). LVEDd maintained a normal range thereafter during the entire follow-up period. LVEDP correlated linearly with age at the time of TAPVC repair (R2 = 0.18, p = 0.007) but not with LVEDV (p = 0.67). Conclusions LV size maintained a normal range after the repair of simple TAPVC. High LVEDP was frequently observed a year after repair; it did not correlate with LV size but had a strong negative correlation with age at the time of repair.

Diameters of coronary artery aneurysms (CAAs) complicating acute phase KD can strongly predict the long-term prognosis of coronary artery lesions (CAL). Recently, computed tomographic angiography (CTA) has been used to detect CAL, and the purpose of this study was to determine whether coronary artery diameters measurements by CTA using dual-source computed tomography (DSCT) can be used instead of coronary angiogram (CAG) measurements. Twenty-five patients (22 males and three females) with CAL due to KD, who had undergone both CTA and CAG within one year, were retrospectively evaluated between 2007 and 2013. A prospective electrocardiogram-triggered CTA was performed on a DSCT (SOMATOM(®) Definition, Siemens Healthcare, Germany). Two pediatric cardiologists independently measured the diameters of CAAs twice in each maximum intensity projection (MIP), curved multiplaner reconstruction (MPR) and CAG. We measured 161 segments in total (segment 1-3, 5-7, 11, 13). Diagnostic accuracy was expressed as κ coefficient. A Bland-Altman analysis was also used to assess the intra-observer, inter-observer and inter-modality agreement. The diagnostic quality of CTA was excellent (κ = 0.93). Excellent inter-observer agreement for the diameters of CAAs was obtained for MIP, MPR and CAG and for the intra-observer agreement. The inter-modality agreement was also excellent in measurements of CAA (MPR-CAG: y = 0.9x + 0.40, r = 0.97, p < 0.0001 MIP-CAG: y = x + 0.1, r = 0.94, p < 0.0001). These values in normal coronary arteries were also obtained. We found a significant correlation between CTA and CAG in measuring the coronary arteries. We conclude that measuring coronary artery diameters by CTA is reliable and useful.

We describe a rare case of fetal critical aortic stenosis with spontaneous relief of severe restrictive atrial communication, resulting in complete resolution of hydrops fetalis in utero. Fetal ultrasonography showed hydrops fetalis caused by critical aortic stenosis with a severely restrictive foramen ovale and severe mitral regurgitation at 23 weeks of gestation. Hydrops fetalis, however, spontaneously resolved, showing an obvious increase of flow through the foramen ovale and pulmonary vein at 26 weeks of gestation. The neonate required balloon dilation of the aortic valve and balloon atrioseptostomy immediately after birth and also received bilateral pulmonary artery banding and arterial duct stenting 1 week later. The patient was in good condition after conversion to biventricular circulation via Ross procedure at 8 months old. The present case suggests that atrioseptostomy as a fetal intervention may improve outcome in even a hydropic condition.

In Ebstein's anomaly, the points of attachment, or hinges, of the septal and mural leaflets in the right ventricle are displaced away from the atrioventricular junction. In contrast, the junctional hinge of the anterior leaflet usually retains a normal position. Here, we report a case of giant right atrial aneurysm due to isolated displacement of the anterior leaflet of the tricuspid valve in an infant, a rare variant of Ebstein's anomaly. Enlargement of the right atrium, which was initially diagnosed during the fetal period, progressively and markedly dilated after birth and was successfully treated with surgical resection. Isolated displacement of the anterior leaflet should be recognized as a variant of Ebstein's anomaly.

The purpose of the study is to analyze the impact of hybrid stage 1 palliation on right ventricular myocardial pathology in hypoplastic left heart syndrome. Sufficient amount of right ventricular biopsies could be obtained from 16 of 32 patients who underwent Norwood operation between 2007 and 2013. Histopathological findings of right ventricle in patients who underwent primary Norwood operation (primary group, n = 5), patients with aortic atresia (HS1P AA group, n = 6) or aortic stenosis (HS1P AS group, n = 5) who underwent staged Norwood palliation following hybrid stage 1 palliation were compared. To eliminate the influence of right ventricular pressure afterload, right ventricular biopsies were obtained from patients with truncus arteriosus communis (TAC group, n = 6) at total correction. The percentage of myocardial fibrosis was significantly higher in both HS1P groups than in TAC group; moreover, it was significantly higher in HS1P AA group than in primary group. Capillary vascular density was significantly lower in all hypoplastic left heart syndrome groups than in TAC group. At the sub-endocardial layer, collagen type I/III ratios were higher in HS1P AA group than in other hypoplastic left heart syndrome groups. The proportions of N-cadherin immunolocalized to myocyte termini were lower in all hypoplastic left heart syndrome groups than in TAC group. Right ventricle in hypoplastic left heart syndrome showed more significant ischemic change and myocardial immaturity than that in truncus arteriosus communis. Hybrid stage 1 palliation for aortic atresia would be a risk factor for further right ventricular myocardial ischemia.

Objectives To assess the feasibility of hybrid Stage I palliation consisting of bilateral pulmonary artery bandings and ductal stenting for patients with 2 ventricular cavities and hypoplastic left heart structures. Methods Eleven consecutive patients who underwent hybrid Stage I palliation between 2010 and 2017 were enrolled. The diagnoses were interrupted aortic arch/coarctation of the aorta, ventricular septal defect and significant left ventricular (LV) outflow tract obstruction in 5 patients, critical aortic stenosis and reduced LV contraction in 3 patients and hypoplastic left heart complex in 3 patients. Results The median age at definitive surgery was 12 months (range 6-22 months). During the mean follow-up period of 24 months (range 9-83 months) following the definitive surgery, there was 1 death. Two patients with interrupted aortic arch/coarctation of the aorta did not undergo the Yasui operation but underwent arch repair and ventricular septal defect closure after the growth of the aortic valve and LV outflow tract. For 2 of the 3 patients with critical aortic stenosis, biventricular repair was performed. Of the 3 patients with hypoplastic left heart complex, 2 patients showed growth of the mitral valve and left ventricle following LV rehabilitation by balloon pulmonary artery dilatation or surgical debanding of the banded pulmonary arteries and subsequently underwent biventricular repair, which resulted in 1 death. Conclusions Hybrid Stage I palliation would be a safe and beneficial treatment for patients with 2 ventricles, as a bridge to decide whether and how to achieve a biventricular repair and whether it should be preceded by a preliminary LV rehabilitation.

Right pulmonary artery to left atrium communication (RPALA com) is a fatal congenital heart disease with right-to-left shunting. We present a rare case of RPALA com that was prenatally diagnosed and confirmed by autopsy. We focus on some unique echocardiographic findings for prenatal diagnosis of RPALA com by reviewing our case and the literature. Asymmetric cardiomegaly with a pear sign and dilatation of the pulmonary artery might be useful for screening tests. A larger stalk with the pear sign, high-velocity of shunt flow, and absence of a dilated pulmonary vein might support the prenatal diagnosis of RPALA com.

ObjectivesThis study aimed to determine fetal echocardiographic features of tetralogy of Fallot in association with postnatal outcomes.MethodsThe Z-scores of the main and bilateral pulmonary arteries and the aorta were measured, and the following variables were calculated in 13 fetuses with tetralogy of Fallot: pulmonary artery-to-aorta ratio and main pulmonary artery cross-section ratio – the main pulmonary artery diameter squared divided by the sum of the diameter squared of the left and right pulmonary arteries. Fetuses were classified as having ductus arteriosus-dependent or ductus arteriosus-independent pulmonary circulation.ResultsWe included two infants with pulmonary atresia and six infants with ductus-dependent pulmonary circulation, who underwent systemic-to-pulmonary shunt surgeries at ⩽1 month of age. The Z-scores of the main pulmonary artery and the pulmonary artery-to-aorta ratio in fetuses with ductus-dependent pulmonary circulation were lesser than those in fetuses with ductus independence, but not significantly. The main pulmonary artery cross-section ratio in fetuses with ductus dependence was significantly lesser (0.65±0.44 versus 1.56±0.48, pConclusionsThe main pulmonary artery cross-section ratio was the most significant variable for predicting postnatal outcomes in fetuses with tetralogy of Fallot.