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The number of women with congenital heart disease (CHD) reaching reproductive age has been increasing. Many women with CHDs are desirous of pregnancy, but they face issues regarding preconception, antepartum, and post-partum management. On the other hand, the fetal diagnosis of CHD has improved with advances in the technique and equipment for fetal echocardiography. Recently, experiences with fetal intervention have been reported in patients with severe CHD, such as critical aortic stenosis. Nevertheless, some types of CHD are challenge to diagnose prenatally, resulting in adverse outcomes. Medical care is part of the transitional care for women and fetuses with CHD during the perinatal period. Pre-conceptional and prenatal counseling play an important role in transitional care. Sex and reproductive education need to be performed as early as possible. We herein review the current status, important issues to be resolved, and the future of maternal and fetal CHD to relevant caregivers. [ABSTRACT FROM AUTHOR]

Prostaglandin I2 (PGI2) causes hyperthyroidism, a critical complication in patients with pulmonary arterial hypertension (PAH). However, it remains unknown whether PGI2 may have unfavorable effects on thyroid function in children with congenital portosystemic venous shunt syndrome (CPSVS). We present a boy with CPSVS who developed PAH at seven years of age. During ongoing PGI2 therapy, he experienced thyrotoxicosis at 17 years of age. The literature review showed that the reported 12 patients with PAH (median 11 years of age) developed hyperthyroidism during between one and 11 years of PGI2 treatment. Only one patient survived the acute PAH crisis due to hyperthyroidism. These data provide evidence that prophylactic intervention for hyperthyroidism is indicated for children with CPSVS during PGI2 treatment. [ABSTRACT FROM AUTHOR]

Abstract Objective To validate that a customized vacuum shape-keeping immobilizer (VaSKI) can be used in preterm infants without sedation. Methods Preterm infants who underwent brain MRI from February 2008 to March 2017 at Osaka Medical College Hospital were retrospectively assigned to the sedation group (February 2008 to September 2013, n = 64) or VaSKI group (October 2013 to November 2016, n = 64). The examination success rates and diagnosable case classification were determined by pediatricians and radiologists. We compared the time from preparation to examination completion between the groups. Furthermore, we measured the time from immobilization to sleep in the preterm infants in the VaSKI group. Results The examination success rate was 90.6% in both of the groups. The median (interquartile range) times of preparation were 24.0 (15.3) and 18.0 (13.0) min in the sedation and VaSKI groups, respectively. In the VaSKI group, the time from immobilization to sleep was within 3 min in 87.1% of the preterm infants. Conclusions The brain MRI examination success rates and motion artifact suppression effects were equivalent between the groups, whereas the time from preparation to examination completion was much shorter in the VaSKI group. Therefore, the VaSKI was validated as an immobilizer for MRI in preterm infants without using sedation. [ABSTRACT FROM AUTHOR]

Background Loeys-Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). Case presentation We report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries. Conclusion This study depicts the systemic vascular phenotypes of a child with Loeys-Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotypephenotype correlations of Loeys-Dietz syndrome. [ABSTRACT FROM AUTHOR]

A 12-year-old Japanese girl developed infective endocarditis and central nervous system disease. The previously healthy girl showed altered consciousness and abnormal behaviors along with the classical signs of septic emboli. Staphylococcus aureus was isolated from peripheral blood, but not, the pleocytotic cerebrospinal fluid. Diagnostic imaging studies revealed a vegetative structure in the morphologically normal heart, and multiple thromboembolisms in the brain and spleen. Low plasma activity of protein S (12%) and thrombophilic family history allowed the genetic study, demonstrating that she carried a heterozygous mutation of PROS1 (exon 13; 1689C > T, p.R474C). Surgical intervention of the thrombotic fibrous organization and subsequent anticoagulant therapy successfully managed the disease. There are no reports of infective endocarditis in childhood occurring as the first presentation of heritable thrombophilia. Protein S deficiency might be a risk factor for the development or exacerbation of infective endocarditis in children having no pre-existing heart disease. [ABSTRACT FROM AUTHOR]