Familial Primary Pulmonary Hypertension ; Humans ; Hypertension, Pulmonary ; Pulmonary Arterial Hypertension

Inhaled nitric oxide (iNO) is a potent and selective pulmonary vasodilator agent that improves arterial oxygenation and subsequent clinical outcomes for newborn infants with persistent pulmonary hypertension of the newborn (PPHN). Along with beneficial pharmacological properties, iNO also shows toxicological effects. Although the side effects of iNO have not been fully understood, these need to be thoroughly considered and monitored for the safe and effective clinical use of iNO. This article presents a review of the side effects of iNO and short-term and long-term clinical prognosis in newborn infants > or =34 weeks' gestation with PPHN.
Female ; Humans ; Hypertension, Pulmonary* ; Infant, Newborn* ; Nitric Oxide* ; Oxygen ; Persistent Fetal Circulation Syndrome ; Pregnancy ; Prognosis*

OBJECTIVE: To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. METHODS: Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. RESULTS: The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c.682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+PM2_Supporting+PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). CONCLUSION Discovery of the c.682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Female ; Humans ; Child ; Infant, Newborn ; Pregnancy ; Persistent Fetal Circulation Syndrome/therapy* ; Hypertension, Pulmonary ; Pulmonary Veins ; Forkhead Transcription Factors/genetics*

Familial Primary Pulmonary Hypertension ; Humans ; Hypertension, Pulmonary ; therapy

We report a case of a full-term neonate with persistent pulmonary hypertension who developed asphyxia after birth and was treated with iloprost. The neonate had persistent hypoxia and did not respond to supportive treatment. Because inhaled nitric oxide (iNO) was not available in our hospital, inhaled iloprost was administered via an endotracheal tube. This resulted in an immediate elevation of oxygen saturation. Echocardiography revealed the conversion of the right-to-left ductal shunt to the left-to-right one and a decrease of the right ventricular pressure. The use of inhaled iloprost did not cause any significant side effects. Here, we describe our experience where iloprost was used in a neonate with persistent pulmonary hypertension because the standard therapy with inhaled nitric oxide was not available.
Anoxia ; Asphyxia ; Echocardiography ; Female ; Humans ; Hypertension, Pulmonary ; Iloprost ; Infant, Newborn ; Nitric Oxide ; Oxygen ; Parturition ; Persistent Fetal Circulation Syndrome ; Ventricular Pressure

Algorithms ; Familial Primary Pulmonary Hypertension ; Humans ; Hypertension, Pulmonary/diagnosis* ; Pulmonary Arterial Hypertension

Tracheal bronchus is an uncommon anomaly in which an ectopic bronchus originates directly from the supracarinal trachea. It is usually an asymptomatic anatomical variant incidentally found on computed tomography or bronchoscopy. However, it can present with symptoms, such as chronic cough, wheezing, atelectasis, and recurrent pneumonia. We report a case of tracheal bronchus diagnosed in the neonatal period, in which the term baby presented with respiratory distress and persistent pulmonary hypertension of the newborn after birth, but no other congenital anomaly was found on further evaluation.
Bronchi* ; Bronchoscopy ; Cough ; Female ; Humans ; Hypertension, Pulmonary* ; Infant ; Infant, Newborn* ; Parturition ; Persistent Fetal Circulation Syndrome ; Pneumonia ; Pulmonary Atelectasis ; Respiratory Sounds ; Trachea

Anastomosis, Surgical ; Child ; Familial Primary Pulmonary Hypertension ; Humans ; Hypertension, Pulmonary/surgery* ; Pulmonary Arterial Hypertension ; Pulmonary Artery/surgery*

Pathogenic variants of bone morphogenic protein receptor type 2 gene (BMPR2) are related to the majority of cases of heritable pulmonary arterial hypertension (PAH). Over 400 pathogenic variants have been identified. However, clinical characterization of PAH is still incomplete. We present a case of heritable PAH in a Korean family showing serious clinical presentation with high penetrance. Genetic sequencing revealed a known heterozygous BMPR2 pathogenic variant, c.418+5G>A, at a splice site of intron 3. Serious clinical presentation with high penetrance suggested that the interplay of other factors with pathologic variants might be in genotype-phenotype correlation. Further studies are needed to clarify these issues for the development of personalized medicine approaches for PAH.
Familial Primary Pulmonary Hypertension ; Genetic Association Studies ; Humans ; Hypertension* ; Hypertension, Pulmonary ; Introns* ; Penetrance* ; Precision Medicine ; Pulmonary Artery

Nitric oxide, an endothelium-derived relaxing factor, is a selective pulmonary vasodilator. We have built and settled down the delivery system of nitirc oxide gas inhalation for the first time in Korea. Two newborn babies delvelped near fatal pulmonary hypertension after surgical repair of a congenital diaphragmatic hernia. All conventional therapeutic measures failed. So we decided to attempt to use of nitric oxide gas for treatment. Addition of ntiric oxide of 1-80 parts per million to the inspired gas allowed resolution of pulmonary hypertension. No side effect of nitric oxide therapy was observed, and ventilatory support could be substantially reduced as a result of treatment and could be stopped later. On the basis of the striking and lifesaving effects of nitric oxide therapy shown in these cases, we believe that nitric oxide inhalation can be used as a major treatment modality in the management of persistent pulmonary hypertension of the newborn.
Endothelium-Dependent Relaxing Factors ; Female ; Hernia, Diaphragmatic* ; Humans ; Hypertension, Pulmonary* ; Infant, Newborn ; Inhalation* ; Korea ; Nitric Oxide* ; Persistent Fetal Circulation Syndrome ; Strikes, Employee