A tricky fetal case of isolated transposition of great arteries without the I-shaped sign.

Isolated transposition of the great arteries (TGA) is a congenital heart disease that presents with severe cyanosis after birth and a fetal diagnosis is crucial for the preservation of life. The I-shaped sign (I-sign) is useful as a fetal screening method for TGA. We herein present a tricky fetal case of isolated TGA with a side-by-side position of the great arteries and no I-sign. Severe cyanosis immediately after birth necessitated urgent interventions. A potentially fatal outcome was prevented by a prenatal diagnosis. In the fetal diagnosis of isolated TGA, it is important to not only detect the I-sign, but also conventionally examine the ventricular outflow tract.

Evaluation of the post-LA space index in the normal fetus.

OBJECTIVE: We previously reported the post-LA space index (PLAS index), which is calculated as left atrial-descending aorta distance (LD) divided by the diameter of descending aorta (DA), could be useful for prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC). In this study, we evaluated PLAS index in normal fetuses to assess its usefulness. METHODS: In 304 normal fetuses, LD and DA were retrospectively measured, and the PLAS index was calculated. In 206 fetuses with data on the biparietal diameter (BPD) and femoral length (FL), the relationship between the PLAS index and them was investigated. We also calculated the PLAS index in 13 TAPVC fetuses. RESULTS: Mean LD was 3.0+/-0.94 mm, mean DA was 4.8+/-0.87 mm, and the mean PLAS index was 0.62+/-0.19. DA and LD were correlated with gestational age (R = 0.52, 0.25), while the PLAS index showed little variation with gestational age (R < 0.2). BPD and FL were correlated with DA (R = 0.4, 0.42) but not with LD or the PLAS index (both R < 0.2). In the TAPVC fetuses, both LD and the PLAS index were significantly higher than in normal fetuses. CONCLUSION: In normal fetuses, the PLAS index was independent of gestational age and fetal physique and may be useful for raising the suspicion of congenital heart disease, including TAPVC.

Fatal overwhelming postsplenectomy infection due to Streptococcus pneumoniae serotype 10A with atypical polysaccharide capsule in a patient with chromosome 22q11.2 deletion syndrome: A case report.

We report the first case of a teenage patient with chromosome 22q11.2 deletion syndrome who died of overwhelming postsplenectomy infection (OPSI) by Streptococcus pneumoniae despite appropriate prevention by pneumococcal vaccine. He had congenital heart disease and underwent several surgeries. Immunodeficiency had not been noticed clinically. Two years prior to death, splenectomy was performed for a drug-resistant idiopathic thrombocytopenic purpura and he was immunized with 23-valent pneumococcal polysaccharide vaccine (PPV23) 4 months after splenectomy. He died suddenly after a mild flu-like symptom. Autopsy was performed and OPSI was diagnosed. Blood culture was positive for S. pneumoniae. This isolated S. pneumoniae strain was serotypically un-typable by polyvalent serum agglutination test. On the contrary, multilocus sequence typing followed by DNA sequencing indicated the molecular serotype as 10A. Additional testing using monovalent and factor-specific sera confirmed the strain as serotype 10A. Ultrastructural observation of this S. pneumoniae strain showed that the polysaccharide capsule was thin and sparse. We speculate that the abnormal morphology of the capsule may have accounted for the polyvalent serum agglutination failure and may possibly be associated with severity of OPSI observed in this case. Chromosome 22q11.2 deletion syndrome is associated with certain immunodeficiency, especially susceptible to S. pneumoniae infections; however, fatal OPSI has not been reported. In addition to vaccination, prophylactic antibiotics may be necessary for these patients who are at risk of immunodeficiency.

Prognostic factors of premature closure of the ductus arteriosus in utero: a systematic literature review.

BACKGROUND: A number of case reports show various outcomes of premature closure of the ductus arteriosus in utero, including persistent pulmonary hypertension of the newborn and fetal or neonatal death; however, no study clarifies the clinical observations that are related to their prognoses. We aimed to clarify the prognostic factors of intrauterine ductal closure by a systematic literature review. Data sources We searched PubMed database (1975-2014) to identify case reports and studies on intrauterine closure of the ductus arteriosus, including maternal, fetal, and neonatal clinical information and their prognoses. RESULTS: We analysed the data of 116 patients from 39 articles. Of these, 12 (10.3%) died after birth or in utero. Fetal or neonatal death was significantly correlated with fetal hydrops (odds ratio=39.6, 95% confidence interval=4.6-47.8) and complete closure of the ductus arteriosus (odds ratio=5.5, 95% confidence interval=1.2-15.1). Persistent pulmonary hypertension was observed in 33 cases (28.4%), and was also correlated with fetal hydrops (odds ratio=4.2, 95% confidence interval=1.3-4.6) and complete closure of the ductus arteriosus (odds ratio=5.5, 95% confidence interval=1.6-6.0). Interestingly, maternal drug administration was not correlated with the risk of death and persistent pulmonary hypertension. CONCLUSIONS: Fetal hydrops and complete ductal closure are significant risk factors for both death and persistent pulmonary hypertension. Cardiac or neurological prognoses could be favourable if the patients overcome right heart failure during the perinatal period.

Prognosis in tetralogy of Fallot with absent pulmonary valve.

BACKGROUND: Tetralogy of Fallot with absent pulmonary valve (TF/APV) is a rare and severe congenital heart disease with high mortality. The aim of this study was to assess whether TF/APV prognosis is related to fetal and postnatal clinical course and pulmonary artery (PA) configuration. METHODS: The fetal and postnatal echocardiograms and clinical outcomes of 13 patients with TF/APV (diagnosed antenatally in 9 patients and postnatally in 4) were reviewed, and divided into two groups: group A (n = 6), alive; and group D (n = 7), dead. RESULTS: Fetal period: group A, polyhydramnios n = 0, hydrops fetalis (HF) n = 0, patent ductus arteriosus (PDA) n = 2; group D, polyhydramnios n = 3, HF n = 2, PDA n = 0. Postnatal period: group A, five patients underwent intracardiac repair, including one requiring artificial ventilation (AV). A further AV patient required three operations before extubation. Postoperative courses were all good. Group D, excluding the two intrauterine fetal deaths, four patients required AV (three of whom died neonatally or in early childhood) and one underwent intracardiac repair. PA configuration: all group A patients had bulbous expansion of left and right PA (clover type). Three patients in group D had bulbous expansion of main PA (balloon type). CONCLUSIONS: PDA was a factor associated with good prognosis. Hydramnion and HF were factors associated with poor prognosis. Given that there was a higher rate of postnatal AV and poorer prognosis in balloon type than in clover type PA (P < 0.05), PA configuration is also considered an important factor to predict postnatal outcome in TF/APV.

Efficacy of the circulatory management of an antenatally diagnosed congenital diaphragmatic hernia: outcomes of the proposed strategy.

OBJECT: The purpose of this study is to evaluate the outcome of our therapeutic strategy for antenatally diagnosed congenital diaphragmatic hernia (ADCDH). METHODS: We treated 61 cases of ADCDH according to our strategy. Prostaglandin E1 was required to be maintained the patency of the ductus arteriosus (PDA) in 39 cases (Group I) while it was not administered in 22 cases (Group II). Left ventricular end-diastolic dimension (LVDD) and Tei index were measured with echocardiography on days 0, 2, and 7 after birth. Radical surgery was performed on all cases by day 2. RESULTS: On day 0, Group I showed smaller LVDD and Tei index than those in Group II. Between day 0 and day 2, these parameters increased significantly in Group I, but not in Group II. On day 7, no significant difference in these parameters was observed between the two groups. Five patients died of cardiac and respiratory failure, resulting in a survival rate of 92 %. CONCLUSION: Our therapeutic strategy improves the clinical outcome of ADCDH. This can be attributed to two factors: earlier surgery resulting in improved LV function. The latter attenuates pulmonary hypertension and maintains PDA with a consequent decrease in right ventricular afterload to compensate for the low cardiac output resulting from PDA.

Pediatric acute disseminated encephalomyelitis following asymptomatic coronavirus disease 2019.

After the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) epidemic emerged, the virus spread rapidly worldwide, and outbreaks continued to occur intermittently. Here, we present the case of a 5-year-old boy with acute disseminated encephalomyelitis (ADEM) and initial symptoms of dysphoria and pain in the right lower extremity. Around the time of this episode, the patient exhibited no fever or respiratory symptoms. Brain magnetic resonance imaging (MRI) revealed multiple T2-weighted image/fluid-attenuated inversion recovery high-signal areas bilaterally subcortical to the deep white matter, corpus callosum, and bilateral basal ganglia. MRI of the cervical and thoracic regions indicated a long lesion with continuous T2WI high signal intensity in the central gray matter. Serum aquaporin-4 antibody and serum myelin oligodendrocyte glycoprotein antibody tests were negative and positive, respectively. A polymerase chain reaction test using nasopharyngeal swab fluid upon admission was positive for SARS-CoV-2. Patients with severe coronavirus disease 2019 (COVID-19) in the acute phase may show central nervous system symptoms. There have been no previous reports of ADEM in the subacute phase of COVID-19, lacking symptoms in the acute phase, as in the present case. Notably, ADEM can develop in the subacute phase of asymptomatic COVID-19 infection.

Prenatal complex congenital heart disease with Loeys-Dietz syndrome.

We report an infantile case of Loeys-Dietz syndrome prenatally diagnosed with congenital complex heart disease - double outlet right ventricle and interruption of the aortic arch. The patient also showed prominent dilatation of the main pulmonary artery. Emergency bilateral pulmonary artery banding was performed on the 9th day. However, on the 21st day, the patient died of massive bleeding due to rupture of the right pulmonary artery. Subsequently, a mutation of the TGFBR1 gene was detected. As cardiovascular lesions of Loeys-Dietz syndrome appear early and progress rapidly, the prognosis is generally poor. Patients require periodic examination and early intervention with medical therapy such as Losartan administration and surgical therapy. Early genetic screening is thought to be useful for the prediction of complications as well as vascular disease.

Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block.

BACKGROUND: There are few reports describing the features of maternal anti-SSA antibody-associated congenital complete heart block (CCHB) patients developing endocardial fibroelastosis (EFE). The aim of this study was to describe the clinical features and the outcome of patients with CCHB, with or without EFE. METHODS AND RESULTS: Over a 20-year period, 12 consecutive patients diagnosed with maternal anti-SSA antibody-associated CCHB were identified. The maternal anti-SSA antibody levels were measured and fetal echocardiographic findings were reviewed. The ratios of the thickness of the endocardium to that of the whole wall of the left ventricle (LE/W) and right ventricle (RE/W) were measured to investigate the degree of endocardial thickening. A total of 7 patients survived (living group) and were not diagnosed as having EFE. The remaining 5 patients died and were diagnosed with EFE during autopsy (dead group). Fetal echocardiography of the patients showed differences in the thickening and hyperintensity of the endocardium. The RE/W value was significantly higher in the dead group than in the living group. The titers of both maternal anti-52-kDa and anti-60-kDa SSA antibodies were high, but showed no significant differences between the 2 patient groups. CONCLUSIONS: EFE was the major negative prognostic factor for CCHB. Myocardial damage, predominantly in the right ventricle, was related to the outcome of CCHB associated with EFE.

Prenatal diagnosis of aortopulmonary window with interrupted aortic arch by fetal echocardiography.

We report the first case of prenatally diagnosed aortopulmonary window (APW) with interrupted aortic arch. The mother was referred for fetal echocardiography at 29 weeks' gestation because of suspected congenital heart disease. On the short-axis view, we clearly imaged the aortopulmonary septal defect at the proximal pulmonary artery and type A interrupted aortic arch. The window was 4 mm and the shunt flow detected by color flow Doppler was right-to-left in systole and early diastole. All aortic arch branches originated from the aorta proximal to the interruption. The well-developed ascending aorta was not continuous with the descending aorta in the sagittal view of the aortic arch. Visualization of the direction of the shunt flow across the APW and each origin of subclavian arteries was useful for the diagnosis of APW with interrupted aortic arch.

Is retrograde blood flow of aortic isthmus useful for the prenatal screening of coarctation of the aorta by fetal color Doppler echocardiography? A preliminary study.

PURPOSE: To validate the relationship between retrograde blood flow in the aortic isthmus (AoI-R) by color Doppler in fetal echocardiography and postnatal coarctation of the aorta (CoA) diagnosed as isthmus narrowing. METHODS: This was a retrospective study of 22 cases of prenatally suspected simple CoA or CoA with small ventricular septum defect based on fetal echocardiography performed by pediatric cardiologists in our hospital. Gestational age at the first detection of AoI-R and the optimal cut-off value for the prediction of postnatal CoA were mainly evaluated according to the postnatal diagnosis of CoA. RESULTS: All 22 cases had AoI-R prenatally, and nine of them (40.9%) had isthmus narrowing and were diagnosed as having CoA immediately after birth. The gestational age at the first detection of AoI-R was significantly lower in cases with postnatal CoA than in those without (average 34.4 weeks; P = 0.034). The cut-off value for the prediction of postnatal CoA was 35.5 weeks of gestation, with a sensitivity and specificity of 77.8 and 69.2%, respectively. CONCLUSION: AoI-R determined by color Doppler echocardiography can become a useful tool in the screening of fetal CoA, especially at < 35 weeks of gestation.

Evaluation of Factors Associated With Achievement of Biventricular Repair After Bilateral Pulmonary Artery Banding in Patients With Interrupted Aortic Arch.

BACKGROUND: At our institution, we perform bilateral pulmonary artery banding (BPAB) as the first-stage palliation for interrupted aortic arch (IAA) with low birth weight or severe subaortic stenosis (SAS). The present study aimed to identify factors that may influence the decision regarding the type of second-stage operation, that is, univentricular palliation or biventricular repair, in these patients. METHODS: Cardiac catheterization and angiographic data of nine patients with IAA who underwent initial BPAB and subsequent univentricular or biventricular repair were retrospectively analyzed. RESULTS: Between 2004 and 2014, of nine patients with IAA who underwent initial BPAB, biventricular repair was subsequently performed in six patients (group B) and univentricular repair in three patients (group U). All patients survived. There was no significant intergroup difference in IAA classification, location of ventricular septal defect, presence of 22q11.2 deletion, presence of aberrant right subclavian artery, band diameter, or post-BPAB pulmonary artery pressure and index. Timing of BPAB and the body weight at the time of BPAB, however, differed significantly between the groups ( P = .02). Catheter data before BPAB were not significantly different between the groups, with the exception of the degree of subaortic stenosis (or hypoplasia of the left ventricular outflow tract) expressed as percentage of the normal end-systolic aortic valve annular diameter for patient body surface area. This metric (%SAS before BPAB) was significantly higher in group B (60%-68%) than in group U (47%-60%; P = .04). Among patients for whom baseline %SAS was < 60%, the %SAS did not increase after BPAB. CONCLUSION: The most important factor that allowed biventricular repair was not the pulmonary artery pressure or diameter but the degree of SAS. Patients who initially had more severe SAS ultimately underwent univentricular repair due to lack of substantial improvement in dimensions of the left ventricular outflow tract after BPAB.

Clinical features of the complete closure of the ductus arteriosus prenatally.

OBJECTIVE: Prenatal constriction of the ductus arteriosus associated with maternal drug ingestion was reported several decades ago. There are fewer reports of the complete closure of the ductus arteriosus; therefore, the clinical features of the latter are poorly understood. The aim of this study is to clarify the clinical features of complete ductal closure and postnatal pulmonary hypertension by performing echocardiography of the fetus. PATIENTS: We diagnosed four fetuses with complete ductal closure by performing fetal echocardiography and reviewed the prenatal and postnatal medical records of the mother and fetus. RESULTS: One mother each had bronchial asthma, ulcerative colitis, and idiopathic thrombocytopenic purpura, and they had received nonsteroidal anti-inflammatory drugs and/or corticosteroids during pregnancy. The fourth mother did not have basal disease and had not ingested any drugs. Fetal diagnosis was performed at 32-38 weeks of gestation. All fetuses had right heart dilatation with tricuspid regurgitation in the absence of any cardiac defects, and Doppler echocardiography indicated that the right ventricular pressure was elevated. Two of the fetuses had fetal hydrops, which suggested severe right heart dysfunction. All fetuses were delivered by emergent cesarean delivery. After birth, all the infants developed persistent pulmonary hypertension and required oxygen inhalation. Of these, three required mechanical ventilation, and two, nitric oxide inhalation. All infants improved within 2 weeks, and they had no neurological and cardiac complications after discharge. CONCLUSION: Right heart dilatation and severe tricuspid regurgitation in the absence of a cardiac defect in the fetus strongly suggested ductal dysfunction. Careful evaluation of ductal patency and right ventricular function can lead to precise early diagnosis and good prognosis.

Prediction of therapeutic strategy and outcome for antenatally diagnosed pulmonary atresia/stenosis with intact ventricular septum.

BACKGROUND: The therapeutic strategy for pulmonary atresia (PA) and severe pulmonary stenosis (PS) with intact ventricular septum is controversial. Recent improvements in prenatal detection necessitate the identification of predictors of outcome for appropriate counseling and prenatal management planning. METHODS AND RESULTS: Echocardiograms of 18 fetuses antenatally diagnosed with PA (n=14) and PS (n=4) were reviewed and the total cardiac dimension (TCD) and tricuspid valve diameter (TVD) were measured. The right ventricular end-diastolic volume (RVEDV) was calculated from the right ventriculogram of the neonatal period by the percentage of the predicted normal value (%RVEDV). There was a positive correlation between TVD/TCD and %RVEDV (p<0.001). As the initial treatment, balloon atrioseptostomy was performed in 13 cases of TVD/TCD<0.26. As the final treatment, patients with TVD/TCD<0.17 underwent or were planned for the Fontan procedure. Patients with TVD/TCD>0.21 underwent or were planned for biventricular repair. Patients whose TVD/TCD was between 0.17 and 0.21 underwent or were planned for 1.5 ventricular repairs. CONCLUSION: TVD/TCD is a useful index for selecting the postnatal initial treatment for PA/PS and to predict the final status of the fetus. Prenatal detection and prediction of the future status is helpful for family counseling. Furthermore, it will help to decide the postnatal management prenatally.