Late-gestation prediction of outcome in tricuspid valve dysplasia and Ebstein's anomaly using fetal tricuspid regurgitation waveform analysis.

OBJECTIVE: To investigate the criteria, based on fetal TR waveforms in late gestation, to predict biventricular circulation (BV) after birth in cases of tricuspid valve dysplasia (TVD) or Ebstein's anomaly diagnosed during the fetal period. METHODS: We included 35 consecutive cases diagnosed with TVD or Ebstein's anomaly during the fetal period between January 2008 and December 2021 at Kanagawa Children's Medical Center, Kanagawa, Japan. The maximum velocity and change in pressure over time of tricuspid regurgitation (TR) jet (dP/dt), estimated using TR waveforms obtained during the late-gestation period (gestational age ≥ 28 weeks), were collected from patient records. dP/dt was calculated by dividing the change in estimated right ventricular pressure obtained using Bernoulli's principle by the time taken for the TR maximum velocity to change from one-third to two-thirds of its peak value. The outcome was divided into four categories: BV, single ventricular circulation, neonatal death and fetal death. Patients with BV were included in the BV group, while patients with single ventricular circulation, neonatal death or fetal death were included in the non-BV (NBV) group. RESULTS: Overall, 19 and 16 patients were included in the BV and NBV groups, respectively. The median TR maximum velocity was 3.3 (range, 2.4-3.6) m/s in the BV group and 1.9 (range, 1.0-3.3) m/s in the NBV group. There were no cases of postnatal BV in fetuses with TR maximum velocity < 2.4 m/s; cases with TR maximum velocity of 2.4-3.3 m/s were observed in both BV and NBV groups. Receiver-operating-characteristics-curve analysis was performed on the 11 patients in the BV group and five patients in the NBV group with a TR maximum velocity of 2.4-3.3 m/s. dP/dt ≥ 350 mmHg/s and TR maximum velocity ≥ 2.9 m/s were identified as criteria for predicting the outcome in such cases. The performance of dP/dt ≥ 350 mmHg/s in predicting BV after birth in fetuses with TVD or Ebstein's anomaly was higher compared to that of TR maximum velocity ≥ 2.9 m/s (sensitivity, 90.9% vs 72.3% and specificity, 80.0% vs 80.0%, respectively). CONCLUSIONS: In fetuses with TVD or Ebstein's anomaly, the postnatal outcome may be BV or NBV when the TR maximum velocity is 2.4-3.3 m/s. In such cases, by combining the TR maximum velocity with dP/dt ≥ 350 mmHg/s, BV after birth may be predicted with greater accuracy. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Reopening of ductus arteriosus in idiopathic premature constriction or closure of ductus arteriosus: A case series.

BACKGROUND: There is no consensus on managing pregnancy when the fetus is diagnosed with idiopathic premature constriction or closure of the ductus arteriosus (PCDA). Knowing whether the ductus reopens is valuable information for managing idiopathic PCDA. We conducted a case-series study to investigate the natural perinatal course of idiopathic PCDA and examined factors associated with ductal reopening. METHODS: We retrospectively collected information about the perinatal course and echocardiographic findings at our institution, which, on principle, does not determine delivery timing based on fetal echocardiographic results. We also examined perinatal factors related to the reopening of the ductus arteriosus. RESULTS: Thirteen cases of idiopathic PCDA were included in the analysis. The ductus reopened in 38% of cases. Among cases diagnosed in < 37 weeks of gestation, 71% reopened, which was confirmed seven days after diagnosis (interquartile range 4-7). Diagnosis earlier in gestation was associated with ductal reopening (p = 0.006). Two cases (15%) developed persistent pulmonary hypertension. No fetal hydrops or death occurred. CONCLUSIONS: The ductus is likely to reopen when prenatally diagnosed before 37 weeks gestation. There were no complications due to our pregnancy management policy. In idiopathic PCDA, especially if the prenatal diagnosis is made before 37 weeks of gestational age, continuing the pregnancy with careful monitoring of the fetus's well-being is recommended.

Prenatal diagnosis of fetal left pulmonary artery sling.

Left pulmonary artery (LPA) sling is a very rare anomaly in which the LPA arises distally, far from the right pulmonary artery on the right side of the distal trachea, turns sharply leftwards around the trachea and courses to the left lung hilum through the space between the trachea and esophagus. LPA sling is often associated with distal tracheal narrowing, due to either intrinsic stenosis or secondary compression by the anomaly itself. To our knowledge, prenatal diagnosis of LPA sling has not been reported so far. We report a case in which LPA sling was diagnosed during fetal ultrasound examination.

Re-evaluation of stomach position as a simple prognostic factor in fetal left congenital diaphragmatic hernia: a multicenter survey in Japan.

OBJECTIVES: To document outcome and to explore prognostic factors in fetal left congenital diaphragmatic hernia (CDH). METHODS: This was a multicenter retrospective study of 109 patients with prenatally diagnosed isolated left CDH born between 2002 and 2007. The primary outcome was intact discharge, defined as discharge from hospital without major morbidities, such as a need for respiratory support including oxygen supplementation, tube feeding, parenteral nutrition or vasodilators. All patients were managed at perinatal centers with immediate resuscitation, gentle ventilation (mostly with high-frequency oscillatory ventilation) and surgery after stabilization. Prenatal data collected included liver and stomach position, lung-to-head ratio, gestational age at diagnosis and presence or absence of polyhydramnios. Stomach position was classified into four grades: Grade 0, abdominal; Grade 1, left thoracic; Grade 2, less than half of the stomach herniated into the right chest; and Grade 3, more than half of the stomach herniated into the right chest. RESULTS: Overall intact discharge and 90-day survival rates were 65.1% and 79.8%, respectively. Stomach herniation was classified as Grade 0 in 19.3% of cases, Grade 1 in 45.9%, Grade 2 in 13.8% and Grade 3 in 21.1%. Multivariate analysis revealed that liver position was the strongest prognostic variable for intact discharge, followed by stomach position. Based on our results, we divided patients into three groups according to liver (up vs. down) and stomach (Grade 0-2 vs. Grade 3) position. Intact discharge rates declined significantly from liver-down (Group I), to liver-up with stomach Grade 0-2 (Group II), to liver-up with stomach Grade 3 (Group III) (87.0%, 47.4% and 9.5% of cases, respectively). CONCLUSION: Current status and outcomes of prenatally diagnosed left CDH in Japan were surveyed. Stomach herniation into the right chest was not uncommon and its grade correlated with outcome. The combination of liver and stomach positions was useful to stratify patients into three groups (Group I-III) with different prognoses.

Rapid diagnosis of coronary reperfusion by measurement of myoglobin level every 15 min in acute myocardial infarction.

OBJECTIVES: The purpose of this study was to examine whether coronary reperfusion can be diagnosed rapidly and accurately by myoglobin measurements. BACKGROUND: When intravenous thrombolysis is used for acute myocardial infarction, it is important to determine coronary reperfusion rapidly and noninvasively so that further treatment can be initiated. METHODS: We determined myoglobin, creatine kinase (CK) and creatine kinase, MB fraction (CK-MB) isoenzyme levels in 63 patients with acute myocardial infarction with total occlusion of the infarct-related artery that was confirmed by coronary angiography. Myoglobin was measured by turbidimetric latex agglutination, which has an assay time of 10 min. We measured myoglobin, CK and CK-MB every 15 min in 45 patients with and 18 patients without reperfusion. The condition of the infarct-related artery was confirmed every 5 to 8 min by coronary angiography. RESULTS: The rate of increase in myoglobin, CK, and CK-MB at 15, 30, 45 and 60 min after treatment and reperfusion was significantly higher in the reperfused than in the nonreperfused group. In the reperfused group, the rate of increase in myoglobin was significantly higher than the corresponding rate of increase in CK and CK-MB at 15, 30 and 45 min after reperfusion. When reperfusion was evaluated on the basis of a cutoff level (myoglobin > or = 2.0, CK > or = 1.8, CK-MB > or = 1.5), the predictive accuracy of myoglobin (95%) was significantly higher than that of CK (68%) and CK-MB (73%) at 15 min after reperfusion. CONCLUSIONS: Coronary reperfusion can be rapidly and accurately detected by measurement of the plasma myoglobin every 15 min.

De novo trisomy 16p11.2-qter: report of an infant.

We report on a four-month-old girl with a de novo trisomy 16q [47,XX, +del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p-)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin.

Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant.

We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

Umbilical cord ulceration and intestinal atresia.

Umbilical ulceration is an extremely rare complication in the perinatal period. We encountered a case of intestinal atresia complicated by massive intrauterine hemorrhage due to the umbilical cord ulceration. This is the fifth reported case demonstrating an association between the umbilical cord ulceration and intestinal atresia.

[PH score--a new scoring system for pulmonary hypertension with chronic lung disease].

Pulmonary hypertension is the most serious complication with the infants of chronic lung disease and pulmonary hypertension. There were no evaluating methods available for outpatients. We've made the scoring system from seven parameters of echocardiography which consist of RSTI, AT/ET, LV (S/L), RVaw (d), RVaw (s), P/A, T/M. The points of total PH score are correlated with estimated pulmonary arterial pressure from the maximum velocity of tricuspid regurgitation. The infants of points less than 2 are considered no PH, points 2 to 4 are mild PH, points 5 to 8 are moderate PH, points more than 8 are severe hypertension. The system has revealed useful for management of patients with home oxygen therapy.

Clinical course of fetal congenital atrioventricular block in the Japanese population: a multicentre experience.

OBJECTIVES: To elucidate the prenatal and postnatal course of fetal congenital atrioventricular block (CAVB) during the past decade in the Japanese population. DESIGN: Retrospective multicentre study. All fetuses with CAVB in 10 Japanese institutions in the period from January 1990 to August 2001 were included. PATIENTS: Of the 48 fetuses with CAVB, 17 had a congenital heart defect (CHD) (14 with left atrial isomerism) and 31 had a structurally normal heart (22 with positive maternal autoantibodies). Gestational age at diagnosis was 15 to 38 (median 26) weeks. RESULTS: Of the 17 fetuses with a CHD, three were aborted, one died before birth, and eight died after birth (three in the neonatal period and five after the neonatal period). Of the 31 fetuses without a CHD, two died before birth and two died after birth. CHD (p = 0.005) and the presence of fetal hydrops (p = 0.05) were significant risk factors for death. However, fetal ventricular and atrial heart rates, gestational age at delivery, and birth weight were not related to death. Transplacental medication of sympathomimetics increased the fetal heart rate in five of eight fetuses treated. Dexamethasone did not improve the degree of heart block in any of the six fetuses treated. Postnatally, pacemakers were implanted in 30 of 40 babies. Four fetuses with maternal autoantibodies had decreased cardiac function. CONCLUSIONS: CHD and fetal hydrops are risk factors for prenatal and postnatal death. The fetal ventricular rate of 55 beats/min did not appear to be a threshold value by which to predict fetal hydrops. Patients with CAVB should be subjected to close long term follow up to check for the need for pacemaker implantation or for late onset cardiac dysfunction.

Ethical issues and decision-making in fetal cardiology.

BACKGROUND: As the technique of fetal ultrasound has developed, we have more opportunities to perform fetal echocardiography. Our knowledge about fetal diagnosis has been rapidly expanded. It is essential for the pediatricians to understand the ethical issues surrounding the fetal diagnosis. METHODS: We discussed these ethical issues at the 5th Annual Meeting of the Japanese Society of Fetal Cardiology in Fukuoka, Japan, 1999. I have reviewed the ethical issues brought up in the discussions. RESULTS: We have discussed many aspects of ethical issues. We should explain to parents before the fetal scan how and why the fetus is examined. It is very important to get written informed consent from the parents. It seems very difficult to inform of fetal diagnosis and support parents appropriately. We have to establish a system where obstetricians, neonatologists, cardiologists, nurses, midwives and medical social workers are cooperating in the perinatal center. CONCLUSION: We have many problems in the field of ethical issues. We have to keep discussing them. It is necessary to establish a team for fetal medicine in every perinatal hospital.

Relation between QT interval and heart rate. applications and limitations of Bazett's formula.

We studied the relationship between QT interval and RR interval when the heart rate was changed by atrial pacing, atropine, isoproterenol, and exercise in nine healthy adult males. The following results were obtained: (1) QT shortening with an increase in heart rate was minimal in atrial pacing and an equation QT = k4 square root RR was obtained from the QT-RR relationship during atrial pacing (r = 0.64, p less than 0.001); (2) shortening of QT with shortening of RR was least in atrial pacing; (3) during recovery from exercise it was largest and almost coincident with Bazett's formula; (4) Bazett's formula, therefore, is clearly applicable in the evaluation of ECGs recorded at rest or after exercise; (5) Bazett's formula can not be applied in the evaluation of an effect of some drug or maneuver on the QT when such a drug or maneuver can affect both the QT and the RR directly. The RR-dependent QT change can be estimated from the equation QT = k4 square root RR and the difference between a measured QT and the estimated RR-corrected QT would be a genuine effect of the drug or maneuver on the QT at that heart rate. We conclude that atropine, isoproterenol and exercise actually shorten the QT interval.

Acute gastric outlet obstruction following the administration of prostaglandin: an additional case.

We present a case of neonatal acute gastric outlet obstruction related to prostaglandin-induced gastric foveolar hyperplasia, which developed following infusion of prostaglandin E1 (PGE1) for treatment of hypoplastic left heart syndrome. Abdominal distension occurred after administration of PGE1 in a cumulative dose of 2914 microg/kg. Ultrasonography performed after a cumulative dose of 5074 microg/kg had been administered disclosed a lobulated thickening of the gastric mucosa with a brush-like appearance composed of alternately echogenic and hypoechoic, vertically oriented lines. These ultrasonographic findings corresponded to the histological abnormalities of gastric foveolar hyperplasia with impacted interfoveolar mucin products and dilated mucosal glands. The development of gastric outlet obstruction in our patient, a relatively rare manifestation of prostaglandin-induced foveolar hyperplasia, might have been related to the unusually high cumulative dose of PGE1.

Arrhythmogenic right ventricular dysplasia with left ventricular involvement: report of a case.

A case of arrhythmogenic right ventricular dysplasia with histological abnormality of the left ventricle is reported. Right ventriculography showed severe dilatation and hypokinesis, and left ventriculography also showed slightly diffuse hypokinesis. Histological findings of both ventricles revealed myocytolysis, severe fibrosis, and marked fatty infiltrations. It is therefore important to examine histologically both the left and right ventricles for such lesions.

Posthemorrhagic hydrocephalus in a fetus with severe tachycardia.

Although posthemorrhagic hydrocephalus has been observed in premature infants, few cases of its intrauterine occurrence in fetuses have been reported. We report a case of posthemorrhagic hydrocephalus in a fetus with severe tachycardia. This case indicates that its possible occurrence should be considered in a case of a preterm fetus with distress.

A case of pediatric cardiomyopathy with severely restrictive physiology.

A rare case of a 6-year-old male with idiopathic familial cardiomyopathy manifesting severely restrictive physiology is reported. The patient showed congestive heart failure with dilatation of both atria with a normal ventricular cavity. A square-root configuration was revealed in the ventricular pressure tracings. His elder brother had died of hypertrophic cardiomyopathy at the age of 3 years. Endomyocardial biopsy disclosed marked disorganization of muscle bundles with hypertrophy of the myocytes and interstitial fibrosis. The patient died suddenly during hospitalization. Autopsy revealed diffuse hypertrophy of both the ventricular walls and the ventricular septum with extensive myocardial disorganization and interstitial fibrosis. These advanced myopathic changes in the myocardium may have been related to the restrictive physiology in this case.

High serum concentration of lipoprotein(a) is a risk factor for restenosis after percutaneous transluminal coronary angioplasty in Japanese patients with single-vessel disease.

To determine the relation between the concentration of lipoprotein(a) [Lp(a)] and restenosis after percutaneous transluminal coronary angioplasty (PTCA) in Japan, we studied 80 consecutive patients with single-vessel disease who successfully underwent PTCA. All were evaluated by follow-up angiography a mean of 6.9 months after PTCA and were divided into the restenosis (30 patients) and the non-restenosis (50 patients) groups. The serum Lp(a) concentration of 29 +/- 17 mg/dl in the restenosis group was significantly higher than that of 17 +/- 14 mg/dl in the nonrestenosis group (p < 0.01). Multiple logistic regression analysis for risk factors revealed a significant correlation between restenosis and Lp(a) (p < 0.003). The serum Lp(a) concentration was positively correlated with the coronary artery percent stenosis at the time of follow-up angiography (r = 0.32, p < 0.01). High serum concentration of Lp(a) is therefore a risk factor for restenosis after PTCA in Japan.

Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia.

We report a patient with congenital dyserythropoietic anemia type 1 with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 months. Autopsy revealed characteristic dyserythropoietic features of the bone marrow by light microscopy and electron microscopy, which confirmed a diagnosis of congenital dyserythropoietic anemia type 1.

Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

We describe the results of mutational analysis of the carbamoylphosphate synthetase I (CPSI) gene in three nonconsanguineous patients with CPSI deficiency. Compound heterozygotes of 3422T/G (V1141G) plus 3784C/T (R1262X), 1528delG (510-514 ARQLX) plus 2752T/C (S918P), and 2549G/A (R850H) plus 2797delT (L933X) were identified through genomic analysis; however, the 2797delT (L933X) mutation was not detected in cDNA analysis using biopsied liver, suggesting that mRNA expression rom this mutant allele is absent or markedly low.