Genetic dilated cardiomyopathy with inflammation in an infant that responded to immunosuppressive therapy evaluated using cardiovascular magnetic resonance.

Cardiovascular magnetic resonance T1 and T2 mapping reflects inflammation, fibrosis, and myocardial oedema. However, its application in infants remains uncertain. Herein, we report a three-month-old boy with dilated cardiomyopathy successfully treated with steroids. Cardiovascular magnetic resonance was useful for diagnosis based on the elevated native T1, T2, and extracellular volume and evaluation of response to immunosuppressive therapy in infantile inflammatory dilated cardiomyopathy.

Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn.

Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase ( MTHFR ) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.

Pulmonary Artery Development Over Time in Severe Ebstein Anomaly.

Recently, the outcome of severe Ebstein anomaly (EA) has improved with the prevalence of the Starnes procedure. However, time-dependent changes in the size of the central pulmonary artery (PA) have not been fully understood. A retrospective chart review of patients with EA who underwent the Starnes procedure during the neonatal period and those with pulmonary atresia with intact ventricular septum (PAIVS) was performed at Fukuoka Children's Hospital. There were 14 patients in the severe EA group and 36 in the PAIVS group, with mean observational periods of 3.8 and 4.2 years, respectively. No significant difference in survival was observed between the groups. However, the mean size of the central PA was smaller in the severe EA group at each surgical stage (after systemic-to-pulmonary shunt, after the bidirectional Glenn procedure, and after the Fontan procedure). A significantly larger ventricular volume was observed in the severe EA group after the Fontan procedure. The growth of the central PA was poor in patients with severe EA. Patients with severe EA should be carefully monitored in this regard both before and after undergoing the Fontan procedure. Further studies regarding long-term prognosis are expected.

Effective infliximab therapy for the early regression of coronary artery aneurysm in Kawasaki disease.

BACKGROUND: There is limited information available regarding the role of infliximab (IFX) following the acute phase of Kawasaki disease (KD). We aimed to evaluate whether IFX is associated with coronary artery aneurysm (CAA) regression. METHODS: Between 2005 and 2016, we identified 971 consecutive patients with KD from 3 tertiary institutions, and 49 (5%) with CAAs were enrolled in our study. Patients were divided into 2 groups: 27 who received IFX and 22 who did not. The persistence rate of CAAs was compared between the groups. RESULTS: Age, sex, and duration of the febrile period did not significantly differ between the groups. The maximum value of C-reactive protein was higher in the IFX- than in the non-IFX group. The maximum z-score of CAAs did not differ between the groups. The 2-, 4- and 6-year cumulative persistence rate of CAA was 24%, 24% and 24% in IFX-group, whereas 67%, 52% and 33% in non-IFX group, respectively (P = 0.03). The median duration of CAA regression was 1.1 vs. 4.6 years. Among those who developed medium- or large-sized CAAs, the 2-, 4- and 6-year cumulative persistence rate of CAA was 33%, 33% and 33% in IFX group, whereas 77%, 51% and 48% in non-IFX group, respectively (P = 0.047). Multivariate logistic regression analysis indicated that the maximum z-score (hazard ratio 0.72, p < 0.001) and response to IFX (hazard ratio 4.56, p = 0.017) were independently related to regression. CONCLUSION: IFX therapy was observed to be effective for the early improvement of CAAs in patients with intravenous immunoglobulin-resistant KD.

Increased Pituitary Volumes in Children after Fontan Operation: Congestion in the Other Portal Circulation.

We performed brain magnetic resonance imaging in 40 patients after the Fontan procedure and 40 control subjects. Pituitary volumes in patients after Fontan were significantly larger than those in the control subjects (472 [425-527] vs 257 [182-311]; P < .0001), and were significantly related to central venous pressure.