Portosystemic shunt with hyperammonemia and high cardiac output as a complication after Fontan surgery.

In the late phase after Fontan surgery, organ dysfunction due to high central venous pressure (CVP) is a major clinical problem. We have described the cases of two patients with portosystemic shunts who exhibited hyperammonemia and high cardiac output associated with peripheral vasodilatation after Fontan surgery. A high CVP in these patients may have resulted in the formation of a portosystemic shunt. We performed coil embolization and balloon-occluded retrograde transvenous obliteration for each case. The possibility of a portosystemic shunt as a postoperative complication of Fontan surgery should always be considered. Early detection and therapeutic intervention seem necessary from the viewpoint of stabilizing the Fontan circulation and delaying the progression of liver disorder. .

Dynamic QT response to cold-water face immersion in long-QT syndrome type 3.

BACKGROUND: Abnormal dynamics of QT intervals in response to sympathetic nervous system stimulation are used to diagnose long-QT syndrome (LQTS). We hypothesized that parasympathetic stimulation with cold-water face immersion following exercise would influence QT dynamics in patients with LQTS type 3 (LQT3). METHODS: Study participants (n = 42; mean age = 11.2 years) comprised 20 genotyped LQTS children and 22 healthy children. The LQTS group was divided into LQT3 (n = 12) and non-LQT3 (n = 8) subgroups. Provocative testing for assessing QT dynamics comprised a treadmill exercise followed by cold-water face immersion. The QT intervals were automatically measured at rest and during exercise, recovery, and cold-water face immersion. The QT/heart rate (HR) relationship was visualized by plotting beat-to-beat confluence of the data. RESULTS: The QT/HR slopes, determined by linear regression analysis, were steeper in the LQTS group than in the control group during exercise and immersion tests: -2.16 ± 0.63 versus -1.21 ± 0.28, P < 0.0001, and -2.02 ± 0.76 vs -0.75 ± 0.24, P < 0.0001, respectively. The LQT3 patients had steeper slopes in the immersion test than did non-LQT3 and control individuals: -2.42 ± 0.52 vs -1.40 ± 0.65, P < 0.0001, and vs -0.75 ± 0.24, P < 0.0001. CONCLUSIONS: The QT dynamics of LQT3 patients differ from those of other LQTS subtypes during the post-exercise cold-water face immersion test in this study. Abnormal QT dynamics during the parasympathetic provocative test are concordant with the fact that cardiac events occur when HRs are lower or during sleep in LQT3 patients.

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course.

Elimination of arrhythmogenesis after subtotal resection of congenital cardiac fibroma: a case report.

Subtotal tumour resection is used to treat infants with congenital cardiac fibroma and medication-resistant ventricular arrhythmias; however, complete elimination of arrhythmogenic substrates has been unclear. A 4-month-old male infant with congenital cardiac fibroma and ventricular fibrillation underwent subtotal tumour resection and implantable cardioverter-defibrillator implantation. Five years later, angiography revealed impending compression of the left coronary artery. Elimination of the arrhythmogenic substrate was confirmed and the device was removed successfully.

Efficacy of primary treatment with immunoglobulin plus ciclosporin for prevention of coronary artery abnormalities in patients with Kawasaki disease predicted to be at increased risk of non-response to intravenous immunoglobulin (KAICA): a randomised controlled, open-label, blinded-endpoints, phase 3 trial.

BACKGROUND: Genetic studies have indicated possible involvement of the upregulated calcium-nuclear factor of activated T cells pathway in the pathogenesis of Kawasaki disease. We aimed to assess safety and efficacy of ciclosporin, an immunosuppressant targeting this pathway, for protection of patients with Kawasaki disease against coronary artery abnormalities. METHODS: We did a randomised, open-label, blinded endpoints trial involving 22 hospitals in Japan between May 29, 2014, and Dec 27, 2016. Eligible patients predicted to be at higher risk for intravenous immunoglobulin (IVIG) resistance were randomly assigned to IVIG plus ciclosporin (5 mg/kg per day for 5 days; study treatment) or IVIG (conventional treatment) groups, stratified by risk score, age, and sex. The primary endpoint was incidence of coronary artery abnormalities using Japanese criteria during the 12-week trial, assessed in participants who received at least one dose of study drug and who visited the study institution at least once during treatment. This trial is registered to Center for Clinical Trials, Japan Medical Association, number JMA-IIA00174. FINDINGS: We enrolled 175 participants. One patient withdrew consent after enrolment and was excluded and one patient (in the study treatment group) was excluded from analysis because of lost echocardiography data. Incidence of coronary artery abnormalities was lower in the study treatment group than in the conventional treatment group (12 [14%] of 86 patients vs 27 [31%] of 87 patients; risk ratio 0·46; 95% CI 0·25-0·86; p=0·010). No difference was found in the incidence of adverse events between the groups (9% vs 7%; p=0·78). INTERPRETATION: Combined primary therapy with IVIG and ciclosporin was safe and effective for favourable coronary artery outcomes in Kawasaki disease patients who were predicted to be unresponsive to IVIG. FUNDING: Japan Agency for Medical Research and Development (grant CCT-B-2503).

Extracorporeal membrane oxygenation in a low-weight infant after cardiac surgery.

A neonate was diagnosed with ventricular septal defect and aortic coarctation. Bilateral pulmonary artery banding was performed at 9 days of age (weight 1472 g). Because of ductal shock, emergency extracorporeal membrane oxygenation was initiated after surgery. Fine adjustment of the bilateral pulmonary artery banding sites using hemoclips was carried out to facilitate weaning from extracorporeal membrane oxygenation, and staged delayed sternal closure was achieved. Arch repair, ventricular septal defect closure, and tricuspid annuloplasty were undertaken when the patient was 4-months old (weight 1.8 kg). She was discharged at 11 months of age (3.0 kg).

Group A streptococcus endocarditis in children: 2 cases and a review of the literature.

BACKGROUND: Infective endocarditis (IE) is defined as endocarditis caused by microorganisms (bacteria or fungi) involving either the heart or great vessels. The clinical course of IE can be complicated by cardiac dysfunction and bacterial embolization to virtually any organ. Staphylococcus aureus and viridans group streptococci are the most common causative organisms, whereas group A Streptococcus (GAS) is less common. Although some GAS serotypes have been associated with severe disease, there are few reports of IE associated with GAS serotypes. Here, we report two cases of GAS endocarditis and review the associated literature. CASE PRESENTATIONS: Patient 1 was a previously healthy 14-year-old girl who developed bacteremia and disseminated intravascular coagulation secondary to left foot cellulitis. She was administered intravenous antibiotics. Two of three blood cultures grew Streptococcus pyogenes (T6 M6, emm6.104). Three days later, a new systolic ejection murmur was heard and echocardiography showed mitral regurgitation with mitral valve vegetation. Because of the resultant severity of the mitral regurgitation, she underwent mitral valve repair after 10 weeks of antibiotic treatment. Patient 2 was a 17-month old boy who presented with a fever. He had a history of spontaneous closure of a ventricular septal defect (VSD). He was started on intravenous antibiotics for possible bacteremia. Two consecutive blood cultures with an interval of more than 12 h grew S. pyogenes (T4 M4, emm4.0). Five days later, echocardiography showed vegetation on a membranous ventricular septal aneurysm. The patient responded well to antibiotics, and recovered fully with no complications. CONCLUSIONS: Although both patients developed GAS endocarditis, patient 1 did not have any predisposing conditions for IE, and patient 2 had a only a low-risk predisposing condition, a VSD that had closed spontaneously at five months of age. We found twelve reports in the literature of GAS endocarditis with information on serotypes. All patients in these reports had GAS endocarditis caused by serotypes generally associated with milder infections, but no specific risk trends were identified. A greater accumulation of cases is necessary to more clearly elucidate the association between GAS IE and specific serotypes.

Anatomical correction of atrioventricular discordance using three-dimensional replica.

Surgical experience with {S,L,D} segmental anatomy of atrioventricular discordance with double-outlet right ventricle is extremely rare. In addition to ordinary cardiac examination, we reviewed electrophysiological studies and a three-dimensional cardiac replica (crossMedical, Inc., Kyoto, Japan). Consequently, we preoperatively confirmed the intracardiac rerouting line and the appropriate right ventricle incision line. A Senning procedure, intracardiac rerouting, and subaortic stenosis resection were performed in a 2.6-year-old patient (weight, 10.6 kg). The three-dimensional cardiac replica contributed definitively to the anatomical correction.

Elimination of arrhythmogenesis after subtotal resection of congenital cardiac fibroma: a case report.

Subtotal tumour resection is used to treat infants with congenital cardiac fibroma and medication-resistant ventricular arrhythmias; however, complete elimination of arrhythmogenic substrates has been unclear. A 4-month-old male infant with congenital cardiac fibroma and ventricular fibrillation underwent subtotal tumour resection and implantable cardioverter-defibrillator implantation. Five years later, angiography revealed impending compression of the left coronary artery. Elimination of the arrhythmogenic substrate was confirmed and the device was removed successfully.

Growing potential of small aortic valve with aortic coarctation or interrupted aortic arch after bilateral pulmonary artery banding.

OBJECTIVES: Bilateral pulmonary artery banding (bPAB) is utilized for some patients with a ventricular septal defect (VSD) and aortic coarctation (CoA) or interrupted aortic arch (IAA). We evaluated aortic valve (AoV) diameter and patient outcomes following bPAB. METHODS: Between August 2010 and September 2015, 10 consecutive patients with VSD and patent ductus arteriosus-dependent CoA or IAA underwent bPAB because of an AoV diameter of approximately <50% of the normal value (n = 6), severe subaortic stenosis and poor patient condition (n = 1, respectively), or low birthweight (n = 2). RESULTS: Second-stage operations were conventional total repair in five and Damus-Kaye-Stansel anastomosis, aortic arch reconstruction and right ventricle-pulmonary artery shunt (modified Norwood) type repair in five. After modified Norwood-type repair, four patients were Yasui-type repair candidates and one was a Fontan candidate. For all patients, the mean AoV diameter increased from 3.7 ± 0.7 mm before bPAB to 4.6 ± 0.8 mm before the second-stage operation. In five patients with CoA or IAA type A, the AoV diameter significantly increased from 3.5 ± 0.3 mm to 4.5 ± 0.5 mm during the term between bPAB and the second-stage operation, with an AoV Z-score increase from -5.82 ± 0.92 to -4.28 ± 0.86. IAA type B showed a slight increase in the AoV diameter. CONCLUSIONS: Initial palliation with bPAB enables AoV diameter growth in some patients, improving the likelihood of conventional total repair adaptation rate, particularly for CoA or IAA type A.

QT Dynamics During Exercise in Asymptomatic Children with Long QT Syndrome Type 3.

Sympathetic provocative testing is commonly used to detect the abnormal QT dynamics in long QT syndrome (LQTS) patients, particularly LQTS type 1 and type 2. However, little is known about LQTS type 3 (LQT3). We investigated QT dynamics during exercise testing in LQTS patients, particularly LQT3. This study included 37 subjects, comprising 16 genotyped LQTS patients and 21 unrelated healthy subjects without QT prolongation. LQTS patients were divided into LQT3 and non-LQT3 groups. During exercise tests using a modified Bruce protocol, 12-lead electrocardiogram monitoring was performed using a novel multifunctional electrocardiograph. QT intervals were automatically measured. The QT/heart rate (HR) relationship was visualized by plotting the beat-to-beat confluence of the recorded data. A linear regression analysis was performed to determine the QT/HR slope and intercept. Estimated QT intervals at HR 60 bpm (QT60) were calculated by the regression line formula. QT/HR slopes were steeper for each LQTS group than for the control group (P < 0.001). QT60 values demonstrated a moderate correlation with QT intervals at rest (P < 0.0001) for both groups. The corrected QT intervals (QTc) at 4 min of recovery after exercise were significantly longer in the non-LQT3 group than in the control group but were not different between the LQT3 and the control groups. Abnormal QT dynamics during exercise testing were observed in both LQT3 patients and other LQTS subtypes. This method may be useful for directing genetic testing in subjects with borderline prolonged QT intervals.

Phrenic nerve protection via packing of gauze into the pericardial space during ablation of cristal atrial tachycardia in a child.

The success of catheter ablation of focal atrial tachycardia is limited by possible collateral damage to the phrenic nerve. Protection of the phrenic nerve is required. Here we present a case of a 9-year-old girl having a history of an unsuccessful catheter ablation of a focal atrial tachycardia near the crista terminalis (because of proximity of the phrenic nerve) who underwent a successful ablation by means of a novel technique for phrenic nerve protection: packing of gauze into the pericardial space. This method is a viable approach for patients with a failed endocardial ablation due to the proximity of the phrenic nerve.

QT dynamics evaluated on fully automated QT measurement in children.

BACKGROUND: The association between QT interval and heart rate (HR), QT dynamics, has been reported to vary greatly between individuals. We investigated QT dynamics using fully automated QT interval measurement with a commercially available multifunctional electrocardiogram (ECG) recorder. METHODS: The study group included 17 otherwise healthy subjects (mean age, 12.7 years; 11 girls, 6 boys), who were undergoing exercise test for arrhythmia evaluation. The subjects had single premature ventricular contraction. RESULTS: Mean corrected QT interval (Fridericia) at rest was 412 ± 19 ms (male, 408 ± 20 ms; female, 414 ± 19 ms), manually measured with a digitizer, using the tangent method. We assessed QT interval/HR slope during the whole exercise test, the exercise phase, and the recovery from exercise phase; the slopes were calculated offline after excluding wide QRS complex and were -1.15 ± 0.26 (r(2) = 0.65), -1.18 ± 0.30 (r(2) = 0.62), and -1.11 ± 0.25 (r(2) = 0.70), respectively. Estimated QT interval at HR 60 beats/min (QT60) was calculated using the regression line formula and was 383 ± 24 ms, 387 ± 28 ms, and 375 ± 21 ms, respectively. QT60 of the total exercise test correlated with the corrected QT interval at rest (P = 0.04, r(2) = 0.25). CONCLUSIONS: Assessment of QT dynamics is feasible on fully automated QT interval measurement with this ECG recorder. Further studies are required in larger populations to confirm the accuracy and precision of QT measurement and QT dynamics using this new multifunctional ECG.

Hypoplastic left heart syndrome in PAGOD syndrome.

Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway.