Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.

We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.

Unguarded Tricuspid Valve and Pulmonary Atresia With Intact Ventricular Septum Complicated With Right Coronary Artery Fistula and Advanced Atrioventricular Block in a Fetus: A Case Report.

The unguarded tricuspid valve is a rare and severe condition. When found in the fetus, they mostly undergo abortion or intrauterine death. The details of the fetal course in such cases are poorly understood.

Antenatal Therapy for Fetal Supraventricular Tachyarrhythmias: Multicenter Trial.

Background: Standardized treatment of fetal tachyarrhythmia has not been established.

Objectives: This study sought to evaluate the safety and efficacy of protocol-defined transplacental treatment for fetal supraventricular tachycardia (SVT) and atrial flutter (AFL).

Methods: In this multicenter, single-arm trial, protocol-defined transplacental treatment using digoxin, sotalol, and flecainide was performed for singleton pregnancies from 22 to <37 weeks of gestation with sustained fetal SVT or AFL ≥180 beats/min.

Fenestration in the Fontan circulation as a strategy for chronic cardioprotection.

Background: Fenestration in the Fontan circulation potentially liberates patients from factors leading to cardiovascular remodelling, through stable haemodynamics with attenuated venous congestion. We hypothesised that a fenestrated Fontan procedure would possess chronic haemodynamic advantages beyond the preload preservation.

Methods: We enrolled 35 patients with fenestrated Fontan with a constructed pressure-volume relationship under dobutamine (DOB) infusion and/or transient fenestration occlusion (TFO).

M-mode Diagnosis of Tachyarrhythmia Can be Erroneous Owing to "Pseudo 1:1 Atrioventricular Movement" of the Atrial Wall Adjacent to the Atrioventricular Valve Possibly due to Atrioventricular Constraint: A Case of Neonatal Atrial Flutter With 2:1 Atrioventricular Conduction.

M-mode echocardiography has been playing an important role in the diagnosis of fetal tachyarrhythmia. We recently encountered a neonatal case of atrial flutter with 2:1 atrioventricular conduction. However, M-mode erroneously indicated 1:1 atrioventricular movement.

Low risk of treatment resistance in Down syndrome with Kawasaki disease.

Background: A Japanese nationwide survey has reported that Down syndrome (DS) is a less-frequently occurring comorbidity in Kawasaki disease (KD). Although altered immune responses are frequently observed in DS, no studies have focused on the treatment response and risk for coronary artery abnormalities (CAA) in DS patients with KD. The aim of this study was therefore to evaluate the clinical manifestations, treatment response and prevalence of CAA in DS with KD.

The impact of intrauterine treatment on fetal tachycardia: a nationwide survey in Japan.

Objectives: To investigate the clinical course of fetal tachycardia and analyze the impact of intrauterine treatment on the postnatal treatment and patient outcomes.

Study Design: This was a retrospective review of cases of fetal tachycardia that occurred from 2004 to 2006. Data were collected from questionnaires that were sent to all 750 secondary or tertiary perinatal care centers in Japan.

Serial sonographic findings during progression from acute pyelonephritis to renal abscess: a rare case report.

Renal abscess, accumulation of infective fluid in the kidney, is a rare pathology. Currently, no reports of the serial imaging changes of acute pyelonephritis (APN) progressing to renal abscess exist. We report clinical and serial sonographic findings of a patient with hyper-immunoglobulin E syndrome, a primary immunodeficiency, who developed APN that progressed to renal abscess.

Developmental Changes in Aortic Mechanical Properties in Normal Fetuses and Fetuses with Cardiovascular Disease.

Background: We hypothesized that fetal aortic mechanical properties assessed by aortic diameter (AoD) and flow show maturational changes during the gestational period, and that these properties are different in fetuses with congenital heart diseases and fetuses with normal development.

Methods: Phasic changes in ascending AoD along with Doppler flow profile were measured in 84 consecutive normal fetuses (gestational age, 18-36 weeks) and in 30 consecutive fetuses with cardiovascular diseases (gestational age, 22-39 weeks).

Results: AoD and cardiac output significantly increased with gestational age.

Fetal bradyarrhythmia associated with congenital heart defects - nationwide survey in Japan.

Background: Because there is limited information on fetal bradyarrhythmia associated with congenital heart defects (CHD), we investigated its prognosis and risk factors.

Methods And Results: In our previous nationwide survey of fetal bradyarrhythmia from 2002 to 2008, 38 fetuses had associated CHD. Detailed clinical data were collected from secondary questionnaires on 29 fetuses from 18 institutions, and were analyzed.

Usefulness of cystatin C in the postoperative management of pediatric patients with congenital heart disease.

Background: The characteristics of the renal marker cystatin C (Cys-C) in association with the postoperative management of children with congenital heart disease (CHD) remain unclear.

Methods And Results: Serum Cys-C and creatinine (Cr) levels were measured preoperatively and on the third postoperative day in 53 consecutive CHD patients (age, 1 day-11 years). On the third postoperative day, the patients were divided into 2 groups: the clinically severe group, requiring continuous infusion of diuretic drugs or peritoneal dialysis; and the non-severe group, composed of those without such needs.

Stent Implantation for Effective Treatment of Refractory Chylothorax due to Superior Vena Cava Obstruction as a Complication of Congenital Cardiac Surgery.

Chylothorax is a serious complication of congenital cardiac surgery and is significantly associated with increased morbidity and mortality. Central venous obstruction, which is often related to the insertion of central venous catheters for postoperative management, is known to be an important risk factor for treatment failure and mortality associated with this condition. We present the case of a 6-month-old girl with refractory chylothorax after surgical repair of tetralogy of Fallot.

Evaluation of transplacental treatment for fetal congenital bradyarrhythmia: – nationwide survey in Japan –.

Background: There are few large studies of fetal congenital bradyarrhythmia. The aim of the present study was to investigate the effects and risks of transplacental treatment for this condition.

Methods And Results: Using questionnaires, 128 cases of fetal bradyarrhythmia were identified at 52 Japanese institutions from 2002 to 2008.

Late clinical manifestations of mitral valve disease and severe pulmonary hypertension in a patient diagnosed with premature closure of foramen ovale during fetal life.

Background: The patency of foramen ovale (FO) in fetal circulation is very important, and premature closure of FO could be associated with several pathological conditions.

Methods: We report a patient in whom premature closure of FO in fetal life was associated with late clinical onset of mitral valve stenosis and subsequent development of irreversible pulmonary hypertension (PH).

Results: The patient showed persistent PH after birth, which completely regressed at the age of 8 months.

Effects of age on hemodynamic changes after transcatheter closure of atrial septal defect: importance of ventricular diastolic function.

Some older patients develop symptoms of clinical heart failure after closure of an atrial septal defect (ASD). The present study tested the hypothesis that baseline hemodynamics and hemodynamic changes induced by transcatheter ASD closure are different between younger and older patients due to age-related differences in left ventricular (LV) diastolic dysfunction. Forty-three consecutive patients (27.

Usefulness of early diastolic mitral annular velocity to predict plasma levels of brain natriuretic peptide and transient heart failure development after device closure of atrial septal defect.

Device closure of atrial septal defect (ASD) is sometimes followed by elevation of plasma brain natriuretic peptide (BNP), a marker of heart failure, and progression to heart failure. This study tested the hypothesis that the underlying diastolic dysfunction, assessed on tissue Doppler images (TDI) before device closure, can predict BNP level after ASD closure. The study subjects were 39 consecutive patients (age 27.

Successful management of the persistent pulmonary hypertension of the newborn with transposition of the great arteries by restricted patency of the ductus arteriosus: a simple and rational novel strategy.

Persistent pulmonary hypertension of the newborn (PPHN) complicated with transposition of the great arteries (TGA) and an intact ventricular septum (IVS) often is therapy resistant and associated with an extremely poor prognosis. For this condition, opening of the ductus arteriosus (DA) by prostaglandin-E1 in conjunction with balloon atrial septostomy and nitric oxide inhalation therapy has been applied as an initial treatment strategy. A case of PPHN with TGA/IVS is presented together with a strategy of intentionally restricted DA to increase pulmonary blood flow successfully used in treating PPHN that otherwise was resistant to conventional therapy.

Ventricular-vascular stiffening in patients with repaired coarctation of aorta: integrated pathophysiology of hypertension.

Background: Despite successful repair, patients with coarctation of the aorta (COA) often show persistent hypertension at rest and/or during exercise. Previous studies indicated that the hypertension is mainly due to abnormalities in the arterial bed and its regulatory systems. We hypothesized that ventricular systolic stiffness also contributes to the hypertensive state in these patients in addition to increased vascular stiffness.

Sedation of hypercyanotic spells in a neonate with tetralogy of Fallot using dexmedetomidine.

Objective: Sedation is an important step in the management of patients with hypercyanotic spells associated with tetralogy of Fallot (TOF) to ameliorate and prevent recurrence of cyanosis. This case report illustrates the effectiveness of dexmedetomidine-induced sedation in the management of hypercyanotic spells in a neonate with TOF.

Description: An 8-day-old term newborn patient with TOF showed hypercyanotic spells, as indicated by an abrupt decrease in arterial saturation (SpO2) level measured by a pulse oximeter from 80% to as low as 50%, when the patient became irritable and agitated.

Efficacy and safety of torasemide in children with heart failure.

Objective: To examine the efficacy and safety of torasemide in children with chronic heart failure (HF).

Methods: 102 children with chronic HF who had received oral torasemide were analysed. Of these, 62 (de novo group) were newly diagnosed as having HF and were given torasemide as a diuretic.

Arterial haemodynamics in patients after repair of tetralogy of Fallot: influence on left ventricular after load and aortic dilatation.

Background: Recent histological studies of the aortic wall of patients with tetralogy of Fallot (TOF) have shown massive degeneration of the tunica media of the aorta. Such changes in arterial wall structure may significantly alter arterial wall mechanical properties, and thus cause abnormal arterial haemodynamics.

Objective: To test the hypothesis that after repair of TOF, there are abnormal arterial haemodynamics which are associated with aortic dilatation and which increased after load on the left ventricle.

Cardiac rest and reserve function in patients with Fontan circulation.

Objectives: In the present study, we systematically tested cardiac rest and reserve function in patients with Fontan physiology to check for inherent limitations of this circulation.

Background: Details of the mechanisms of cardiac performance that could account for adverse outcome after Fontan surgery are not well understood.

Methods: The subjects were 17 Fontan patients with good functional status (Fontan group) and 20 patients with normal two-ventricle circulation (control group).