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Pulmonary agenesis is a complete absence of the pulmonary parenchyma, airways, and vasculature unilaterally or bilaterally. Although bilateral cases are lethal, the outcome of unilateral cases remains not well described. We performed a comprehensive literature review to assess the clinical features of pulmonary agenesis.Four database sources were searched on October 10, 2021 and two cases were included from our institution. Studies related to the clinical impact of comorbidity and intervention on the survival outcome in pulmonary agenesis were included for full-text review.We identified 259 patients-with right-sided (59%), left-sided (34%), and bilateral agenesis (7%)-among 195 articles and our two cases. Additional anomalies included cardiovascular (40%), skeletal (30%), gastrointestinal (20%), tracheal (20%: all stenoses), and genitourinary (14%) anomalies. Fifty-seven (24%) individuals in unilateral pulmonary agenesis had isolated disease. Outcomes related to survival were not uniformly reported, but the 2-year overall survival rate of unilateral agenesis was 62% and no subsequent death was reported until 13 years of age. The right-sided agenesis was more frequently associated with tracheal stenosis (27% vs. 11%, p = 0.003) than the left-sided disease. A multivariable analysis indicated that tracheal stenosis (hazard ratio [HR]: 2.2, 95% confidence interval [CI]: 1.3-4.1, p = 0.003) and gastrointestinal anomalies (HR: 2.0, 95% CI: 1.1-3.3, p = 0.010) were prognostic factors for mortality.The poor prognostic factors were tracheal stenosis, right agenesis, and gastrointestinal anomalies. Treatment for these comorbidities is a key point for improving the survival of unilateral pulmonary agenesis.

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 postpartum 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.

Congenital diaphragmatic hernia (CDH) is a relatively rare malformation, but it has a high mortality rate. Its association with congenital heart disease lowers survival rate due to severe acidosis and desaturation caused by persistent pulmonary hypertension of the neonate. We describe herein a case of CDH with transposition of the great arteries and intact ventricular septum, in a patient who was prenatally diagnosed, managed with extracorporeal oxygenation (ECMO) support and successfully treated with both CDH repair and Jatene procedure, with no respiratory or circulatory sequelae. In conclusion, precise prenatal estimation is essential, and ECMO is a useful therapeutic option in these complex cases.

Summary Abnormal immunological responses to certain microbial agents may play a crucial role in the pathogenesis of Kawasaki disease (KD). The association studies between histo-blood group genes (Lewis and ABO blood types) and various types of infectious diseases or vasculopathy have been carried out based on the fact that glycosylated antigens could directly mediate microbial infections. We attempted to clarify the role of blood type antigens in the development of KD and coronary artery lesions in KD patients. The subjects included 164 KD patients enrolled from 1998 to 2003 (1st group), 232 patients from 2004 to 2009 (2nd group), and 223 healthy children and 118 patients with growth hormone deficiency as controls. The genotyping of the FUT2 and FUT3 genes, and ABO genotypes, was determined with the TaqMan SNP assay and allele-specific polymerase chain reaction. No significant differences were observed in the genotypes and allele frequencies of the FUT2 and FUT3 genes between the groups. The frequency of the BB blood genotype was significantly higher in KD patients with coronary artery lesions in the 1st and 2nd groups than in the controls (17% and 14% vs. 5%, P = 0.0020). This is the first report to investigate the roles of ABO and Lewis blood types in the development of KD, and in the formation of coronary artery lesions in KD patients. These data suggest that the ABO blood type may play a role in the development of coronary artery lesions in KD patients.

Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) is one of the autoinflammatory diseases of unknown etiology characterized by regularly recurrent fever episodes with attacks lasting 3-6 days every 3-8 weeks associated with at least one of the three cardinal clinical signs: aphthous stomatitis, pharyngitis, and cervical adenitis. Kawasaki disease (KD) is an acute, self-limited systemic vasculitis that occurs predominantly in infants and young children. In most KD patients, i.v. immunoglobulin leads to a rapid amelioration of clinical symptoms and significantly decreases the risk of coronary artery aneurysms. Although the etiology of KD is still unknown, it was reported that innate immunity was activated in the patients. Described herein is a patient with PFAPA who developed KD. This is the first report of KD development in a PFAPA patient. The association between KD and PFAPA may represent a genetic predisposition to dysregulated innate immune response.