Valley Index as a Predictor of Prenatal Diagnosis of Total Anomalous Pulmonary Venous Connection.

INTRODUCTION: Total anomalous pulmonary venous connection (TAPVC) has a low prenatal diagnostic rate. Therefore, we investigated whether Doppler waveforms with a low pulsatility in the pulmonary veins can indicate fetal TAPVC. METHODS: This retrospective study included 16 fetuses with TAPVC, including 10 with complex congenital heart disease and 104 healthy fetuses that underwent fetal echocardiography. Pulmonary venous S and D wave flow velocities and the valley (representing the lowest velocity between the S and D waves) were measured. Valley indices I and II were then calculated as (velocity of valley/greater of the S and D wave velocities) and (velocity of valley/lesser of the S and D wave velocities), respectively. RESULTS: Supra/infracardiac TAPVC cases exhibited significantly greater valley indices than that of the healthy group. After adjusting for gestational age at fetal echocardiography, valley indices I (odds ratio [OR] 7.26, p < 0.01) and II (OR: 9.23, p < 0.01) were significant predictors of supra/infracardiac TAPVC. Furthermore, valley indices I and II exhibited a high area under the curve for detecting supra/infracardiac TAPVC, regardless of the presence of pulmonary venous obstruction. CONCLUSION: The valley index may be a useful tool for the detection of fetal TAPVC.

Absent pulmonary valve with tricuspid atresia/stenosis: literature review with new three long-term cases.

Absent pulmonary valve (APV) syndrome with tricuspid atresia or tricuspid stenosis (TA/TS) is an extremely rare malformation recently reported as a variant of APV with intact ventricular septum (VS). The condition, however, has univentricular physiology and unique structural and clinical features. The purpose of this study was to update the current knowledge about this condition by describing long-term outcomes of three new cases and reviewing the available literatures. A systematic literature search was performed to collect clinical and anatomical data of APV with TA/TS. Institutional medical records were retrospectively reviewed to identify APV with TA/TS patients. In a total of 62 (59 reported and 3 new) cases, patent ductus arteriosus was present in 98% of APV patients with TA/TS. A large ventricular septal defect, dilatation of the pulmonary arteries, which is typically found in APV with tetralogy of Fallot, and respiratory distress at birth were rarely reported. Most of the recent cases were successfully managed by the Glenn or Fontan procedure. Coronary artery anomaly and ventricular arrhythmia were more frequently reported as the cause of death or severe neurological sequelae (9/16 and 3/8, respectively). Additional surgical intervention was required in the mid/long-term period in three cases due to left-ventricular outflow obstruction and in two due to aortic dilatation. The Fontan and Glenn procedures improved the survival in the last two decades. In addition to coronary artery anomaly and ventricular arrhythmia, left-ventricular outflow tract obstruction and aortic dilatation should be carefully monitored.

Fetal case of rare association of hypoplastic left heart syndrome and absent atrial septum accompanied by mixed form of supracardiac total anomalous pulmonary venous connection.

Abnormal pulmonary venous flow patterns on fetal echocardiography and a nutmeg lung pattern on fetal magnetic resonance imaging are seen in patients with pulmonary venous stenosis. The association between these findings and the degree of pulmonary venous stenosis remains unknown. We report an extremely rare case of a fetus diagnosed with hypoplastic left heart syndrome complicated by an absent atrial septum and supracardiac total anomalous pulmonary venous connection with left pulmonary venous congestion. This case suggests that compared to non-pulsatile continuous pulmonary venous flow, the nutmeg lung pattern can only be observed with severe pulmonary congestion and advanced pulmonary lymphangiectasia.

Agenesis of the venous duct with abnormal return of the umbilical vein into the superior vena cava: A case report.

INTRODUCTION: Agenesis of the venous duct is rare, with an incidence rate of .04%-.6%. Abnormal drainage of the umbilical vein (UV) to superior vena cava (SVC) is seen in .5% of agenesis of the venous duct cases. We present a case of agenesis of the venous duct with drainage of the UV into the SVC accompanied by tetralogy of Fallot. CASE PRESENTATION: The fetus was diagnosed with agenesis of the venous duct and tetralogy of Fallot at 29 gestational weeks. The UV directly returned to the SVC. Cardiomegaly and pericardial effusion were observed but did not deteriorate. The female infant was born at 40 gestational weeks. Contrast-enhanced computed tomography showed that the UV was occluded at its proximal aspect. No abnormality of the portal system was noted. The infant underwent intracardiac repair and was doing well at 16 months of age. DISCUSSION/CONCLUSION: Although the extrahepatic drainage type of agenesis of the venous duct is occasionally associated with heart failure and hydrops, severe hydrops was absent in this case. It was speculated that vascular resistance in the long pathway to the SVC restricted direct inflow from the UV. Portosystemic shunts and agenesis of the portal system are reported complications of agenesis of the venous duct. Prenatal agenesis of the venous duct diagnosis may be crucial for early postnatal diagnosis of these conditions.

Assessing liver stiffness with conventional cut-off values overestimates liver fibrosis staging in patients who received the Fontan procedure.

AIM: Patients who undergo the Fontan procedure for complex congenital heart disease are prone to liver cirrhosis. Liver stiffness (LS) reflects liver fibrosis stage in patients with chronic viral hepatitis; however, its accuracy in predicting liver fibrosis stage in Fontan patients is controversial. We aimed to clarify the correlation between LS and liver fibrosis stage in Fontan patients. METHODS: Fifty-eight Fontan patients were prospectively measured for LS with transient elastography. We undertook liver biopsy, cardiac catheterization, and laboratory tests in 22 of these patients (median age, 14.7 years; range, 9.9-32.1 years) with LS > 11.0 kPa (median, 19.2 kPa; range, 12.2-39.8 kPa); these elevated LS values suggest liver cirrhosis. RESULTS: Histologically, all patients showed mild-to-severe portal and sinusoidal fibrosis but no cirrhosis. Statistically, LS did not predict histological liver fibrosis scores (p = 0.175). Liver stiffness was not correlated with central venous pressure (p = 0.456) or with the hepatic venous pressure gradient (HVPG; p = 0.062), although the p value for HVPG was only slightly above the threshold for significance. CONCLUSIONS: Fontan patients are prone to developing both portal and sinusoidal fibrosis. Liver stiffness could be influenced by HVPG, and using the conventional cut-off values for LS overestimates and overtreats liver fibrosis in these patients.

Prenatally diagnosed left atrial appendage aneurysm with various postnatal imaging investigations: A case report.

A congenital left atrial appendage aneurysm (LAAA) is a rare cardiac malformation, that is, usually diagnosed in adulthood. It is rarely diagnosed prenatally. In most cases, surgical resection is recommended soon after the diagnosis has been made due to the risk of arrhythmia and thrombotic events. The present report describes a case of LAAA that was prenatally diagnosed and was asymptomatic postnatally. Imaging revealed the relation of the cardiac and airway structures around the LAAA in detail. The patient underwent surgical resection of the LAAA successfully at 7 months of age and is currently healthy at 5 years of age.

A unique autopsy case of ascending aortic dissection caused by giant cell arteritis without drug therapy.

Giant cell arteritis is a granulomatous inflammation of large and medium-sized arteries, occurring predominantly in older women. In this case, a 76-year-old woman was hospitalized for examination because of a high C-reactive protein (CRP) level, but nothing remarkable was found on thoracicoabdominal computed tomography (CT) or head magnetic resonanse imaging (MRI). On the 46th day from the first visit, she died suddenly due to cardiac tamponade. On pathological autopsy, we found the cause of death to be acute aortic dissection (Stanford type A) due to giant cell arteritis occurred in the ascending aorta. Histologically, granulomatous vasculitis with giant cells was recognized in the ascending aorta, thoracic descending aorta and abdominal aorta and their branches. Interestingly, similar granulomatous vasculitis was also found in the medium and small vessels of other plural organs, including the heart, liver, uterine corpus, and its appendages. To our knowledge, giant cell arteritis with multiple-organ granulomatous changes has not been reported before. We herein reported a unique autopsy case of giant cell arteritis in a patient not treated with medication.

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.

KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.

Feasibility and safety of transseptal puncture procedures for radiofrequency catheter ablation in small children weighing below 30 kg: single-centre experience.

AIMS: Transseptal puncture (TSP) has become a common approach in catheter ablation of arrhythmia originating from the left atrium. In paediatric patients, however, TSP can be a challenge due to narrower access vessels and small left atrial size, and the safety of TSP in smaller children is yet to be understood. The purpose of this study was to retrospectively evaluate the feasibility and safety of TSP in children weighing below 30 kg. METHODS AND RESULTS: Among 655 paediatric patients who underwent catheter ablation of arrhythmia between July 2009 and April 2015, 43 cases having structurally normal hearts, weighing <30 kg and requiring TSP were included in the study. Age, height, body weight, diagnosis, and complications during TSP and catheter ablation were evaluated. The median age, height, and body weight (range) were 7.0 years (0.3-11.1), 116.8 cm (54.0-138.4 cm) and 21.5 kg (4.3-29.6 kg), respectively. Diagnosis included manifest (n = 27; 62.8%) and concealed accessory pathway (n = 14; 32.6%) and atrial tachycardia (n = 2; 4.6%). In 10 cases (23.2%), TSP using radiofrequency energy was performed. None of the patients had major complications. Pericardial effusion was recorded as a minor complication in one patient (2.3%). CONCLUSION: TSP was feasible, safe, and of low risk of complications in children weighing <30 kg.

A survey of the 3-decade outcome for patients with giant aneurysms caused by Kawasaki disease.

BACKGROUND: Our purpose was to determine the outcome in patients with a more-than-20-year history of giant coronary aneurysms (GAs) caused by Kawasaki disease (KD). METHODS: Between 2010 and 2011, the incidence and outcome of cardiac events (CEs) in patients with GA was surveyed by questionnaire by the Kinki area Society of KD research. Death, acute myocardial infarction (AMI), coronary artery bypass grafting (CABG), percutaneous coronary catheter intervention, syncope, and ventricular tachycardia were considered as CEs. Survival rate and CE-free rate were analyzed by the Kaplan-Meier method. RESULTS: We enrolled 245 patients (187 were male, 58 were female), 141 with bilateral GA and 104 with unilateral GA. The interval between the onset of acute KD to the time of survey ranged from 0.2 to 51 years, and the median was 20 years. Death, AMI, and CABG occurred in 15 (6%), 57 (23%), and 90 patients (37%), respectively. The CE-free rate and the survival rate at 30 years after KD were 36% (95% CI 28-45) and 90% (95% CI 84-94), respectively. The 30-year survival rate for bilateral GA was 87% (95% CI 78-93), and for unilateral GA, it was 96% (95% CI 85-96; hazard ratio 4.60, 95% CI 1.27-29.4, P = .027). The 30-year survival rate in patients with AMI was 49% (95% CI 27-71), and the 25-year survival rate in patients undergoing CABG was 92% (95% CI 81-98). CONCLUSIONS: The outcome differed significantly between bilateral GA and unilateral GA. The results focus attention on the need to preserve myocardial perfusion, especially in high-risk patients with bilateral GA. An understanding of the optimal CABG would be useful in bilateral GA.

Eosinophilic granulomatosis with polyangiitis developed during treatment with benralizmab for severe asthma: A case report and literature review.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare autoimmune disorder characterized by necrotizing vasculitis, asthma, and eosinophilia. We report a case of EGPA that developed during benralizumab treatment for severe asthma and provide a literature review. A 79-year-old Japanese male with severe asthma presented with generalized purpura 4 months after initiating benralizumab treatment. He had reduced his oral prednisolone dose from 7.5 to 2 mg/day. Laboratory tests revealed eosinophilia, and skin biopsy showed vasculitis with eosinophilic infiltration. He was diagnosed with EGPA and treated with corticosteroids, azathioprine, and mepolizumab, which led to rapid improvement and sustained remission. Five cases of EGPA developing during benralizumab treatment have been reported, with onset ranging from 14 to 36 weeks after initiation. Clinicians should monitor for EGPA development in patients receiving benralizumab, particularly during oral corticosteroid reduction.

Immunoglobulin A Vasculitis After Initiation of Treatment for Tuberculous Pleurisy: A Case Report and Literature Review.

Immunoglobulin A vasculitis (IgAV), also known as Henoch-Schönlein purpura (HSP), is a disease that causes inflammation and bleeding in small blood vessels in the skin, joints, intestines, and kidneys. Although various infections and chemicals are known to be triggers, the underlying cause of IgAV remains unknown. Here, we describe a case of an 86-year-old male patient with IgAV that developed after anti-tuberculosis treatment for tuberculous pleurisy. There have been several case reports implicating Mycobacterium tuberculosis and other acid-fast bacterium in the development of IgAV, but only a few case reports implicating anti-tuberculous drugs. This case highlights the importance of recognizing that IgAV can be caused by anti-tuberculous drugs.

Successful application of lorlatinib in a 23-year-old patient with anaplastic lymphoma kinase (ALK)-positive lung cancer and multiple brain metastases.

BACKGROUND: Anaplastic lymphoma kinase (ALK)-positive lung cancer has a better long-term prognosis with ALK-inhibitor than other lung cancers. However, resistance to ALK-inhibitors and the control of metastases in the central nervous system (CNS) remain to be a challenge in the management of ALK-positive lung cancer. CASE: We present the case of a 23-year-old man who developed multiple brain metastases while receiving alectinib treatment for ALK-positive lung cancer. After 3 months of lorlatinib initiation, brain metastases disappeared, and complete response (CR) was maintained. CONCLUSION: While lorlatinib can be used as first line therapy, this drug may be considered as second line or later option for patients with multiple brain metastases if the patient has already been treated with other ALK-inhibitors since lorlatinib is thought to have good CNS penetration. This treatment option should be verified by further research.

Development and implementation of an aspiration pneumonia cause investigation algorithm.

The diagnostic criteria of aspiration pneumonia have not been established, and it remains an underdiagnosed entity. Diagnosis and cause investigation is essential in improving the management of aspiration pneumonia. The Japanese Respiratory Society Guidelines for the Management of Pneumonia in Adults (JRS Guidelines) show a list of risk factors for aspiration pneumonia. We developed an algorithm to aid physicians in evaluating these possible underlying factors and guide their management with a focus on aspiration pneumonia. The algorithm was developed based on the JRS Guidelines. The algorithm suggested dysphagia screening, pneumococcal and influenza vaccination, and other preventative measures for pneumonia. The algorithm was implemented in the acute setting of a general hospital among older patients admitted with pneumonia. Their outcomes were compared with a historical control group constituting similar patients from the previous year. Forty patients with pneumonia were assessed with the algorithm group, and 44 patients were included in the control group. In the algorithm group, significantly more cases (95.0% vs. 15.9%, p < 0.01) underwent early screening for a swallowing disorder. Two patients in the algorithm group were diagnosed with a new condition causing aspiration pneumonia, as opposed to none in the control group. Drugs with a potential risk for aspiration were identified and discontinued in 27.5% of the patients in the algorithm group and 4.5% in the control group. In conclusion, an aspiration pneumonia cause investigation algorithm translating the JRS guideline approach into practice enhanced the rate of swallow screening and preventative measures for aspiration.

Successful perioperative management of pheochromocytoma in a patient with Fontan circulation.

Pheochromocytoma (PCC) can adversely affect Fontan circulation. However, there are few reports on its perioperative management before and after PCC resection in Fontan patients. A 24-year-old female patient with congenitally corrected transposition of the great arteries, ventricular septal defect, and pulmonary atresia who had undergone Fontan palliation developed heart failure caused by PCC. The patient was pre-conditioned for PCC resection with heart failure treatment, alpha-blocker titration, and careful infusion, and had a good intraoperative and postoperative course with no complications. Postoperative catheter data showed improvements in systemic vascular resistance, cardiac output, and central venous pressure compared with preoperative data. There is no established preconditioning method for PCC resection in patients with Fontan circulation. Careful perioperative management based on an understanding of the features of the Fontan circulation can lead to better outcomes. Learning objective: Pheochromocytoma (PCC) can occur in patients with Fontan circulation. Preoperative management and the PCC itself can adversely affect Fontan circulation, highlighting the importance of suspecting PCCs in Fontan patients based on symptoms such as heart failure, worsening arrhythmias, and headache, and emphasizing careful perioperative management.

In-situ transmission electron microscopy observation of electromigration in Au thin wires.

Electromigration of thin Au wire is studied by the use of in-situ transmission electron microscopy (TEM) techniques from the viewpoint of nanogap formation. We use a relatively wide Au wire as a starting material because the position-dependent structure change in the wire provides information of the thermal effect caused by the current flow. In-situ TEM observation, in which current measurements of the Au wire are simultaneously performed, reveals the process of the growth of voids and grains. Finally the formation of a nanogap by electromigration is observed doing with current measurements. All the results observed by in-situ TEM indicate the fact that the thermal effects or temperature increase in the wire region take an important role for the structure change caused by electromigration of Au in the wire. It is suggested that the position of the nanogap can roughly be arranged by setting the wire structure and current direction even though a relatively wide wire was used. The detailed observation by in-situ TEM also suggests that the control of heat generation in the wire makes the nanogap sharp because of the well-controlled recrystallization of Au nanowires.

Isolated congenital interruption of the right interlobar pulmonary artery with unilateral interstitial lung abnormality.

We report a case of an isolated congenital interruption of the right interlobar pulmonary artery with unilateral interstitial lung abnormality. 3D-CT with enhancement showed absent right interlobar pulmonary artery without any other abnormalities of the pulmonary artery and an enlarged inferior phrenic artery. High-resolution CT demonstrated ground-glass opacities, reticular changes, and small cysts in the right middle and lower lobes, which were compatible with interstitial lung abnormality. The patient was diagnosed with an isolated congenital interruption of the right interlobar pulmonary artery since chronic pulmonary thromboembolism, structural heart disease, systemic congenital disease, and systemic vasculitis were ruled out.

The Japanese Respiratory Society guidelines may reduce unnecessary chest computed tomography in patients with pneumonia requiring hospitalization: A retrospective study.

BACKGROUND: With the abundance of CT scanners in Japan, doctors can easily order CT scans to diagnose pneumonia. The Japanese Respiratory Society (JRS) guidelines uniquely recommend conditions for which additional CT scans should be considered at the time of diagnosis of pneumonia, a feature not found in other guidelines. In this study, we aimed to evaluate the usefulness of the recommendations in a bid to reduce the number of unnecessary CT examinations. METHODS: We retrospectively reviewed the electronic medical records of consecutive patients with pneumonia hospitalized between April 2016 and March 2017 to extract patients' backgrounds and clinical courses. Conformity with the JRS guideline recommendations was also examined. In the patients who did not meet the recommendations, we investigated the proportion of them for whom an additional CT scan influenced the clinical decisions. Finally, we evaluated whether there was a difference in hospital stay depending on the additional chest CT at the time of admission. RESULTS: We included 363 hospitalized patients with pneumonia. Chest CT scan was performed in 306 patients (84.3%), of whom 186 (60.8%) did not meet the JRS guideline recommendations. Chest CT revealed findings requiring a change in treatment strategy in only 14 (7.5%) of the 186 patients. Among the 240 patients (66.1%) who did not meet the recommendations, no statistically significant difference was observed in the hospital stay or mortality between patients with and without CT scans. CONCLUSIONS: Adherence to the JRS guideline recommendations may reduce the excessive use of CT scans in the diagnosis of pneumonia.

Lymphangioleiomyomatosis associated with prolactinoma: A case report and literature review.

The thirty-five-year-old woman had been experiencing dyspnea on exertion since her second child's birth five years before presenting to hospital A, where she was diagnosed with lymphangioleiomyomatosis (LAM) based on video-assisted thoracoscopic surgery lung biopsy and referred to our hospital. She was treated with sirolimus for one year. Although her subjective symptom of dyspnea improved, she found that her amenorrhea had persisted for six years. A blood test revealed high prolactin (PRL) levels of 98 ng/mL and head magnetic resonance imaging revealed a pituitary adenoma, which was complicated by a prolactinoma. We continued with follow-up observation without any pharmacotherapy for the prolactinoma. However, she was administered oral cabergoline (0.25 mg per week) when her PRL levels were elevated to 250 ng/mL 38 months after therapeutic intervention with sirolimus. For the next 14 months, her respiratory function and PRL concentration both demonstrated improvement and her condition did not worsen any further. It has been reported that prolactin may exacerbate LAM. Our case suggests that a clinical reduction in PRL levels may also improve LAM.

A double-barrelled aorta with high aortic Arch.

A double-barrelled aorta was detected in a female newborn with 22q11.2 deletion syndrome. Double-barrelled aorta had been previously described as persistence of the fifth pharyngeal arch, but its existence continues to be debated. Recent embryologic studies suggest that double-barrelled aorta is more likely explained by other developing processes in the majority of cases. In our case, catheter angiography confirmed the presence of the high aortic arch and double-barrelled aorta. The upper lumen was located above the level of the clavicles. These findings suggested that the persistence of the segment of dorsal aorta between the third and fourth embryonic arches and the double-barrelled aorta was more likely a consequence of persistence of the third and fourth pharyngeal arches. Detailed imaging and embryologic considerations played an important role in accurate assessment of the origin of the double-barrelled aorta. .