Cantrell syndrome (CS) or pentalogy of Cantrell is defined as a rare condition involving a midline anterior abdominal wall defect, a distal sternal cleft, a defect of the anterior diaphragm, and a defect of the apical pericardium with pericardio-peritoneal communication, as well as intracardiac anomalies. We report the case of a male newborn with type 2 CS diagnosed during intrauterine life based on ultrasonographic evaluation. Clinical examination at birth revealed an abdominal wall defect with extrathoracic displacement of the heart and a diastasis of the sagittal suture. Postnatal echocardiography revealed tricuspid atresia, partial extrathoracic and extra-abdominal displacement of the heart and liver, a large ventricular septal defect, severe subpulmonary stenosis, hypoplasia of the pulmonary artery, and a large hourglass-shaped left ventricle secondary to narrowing of the heart at the level of its extrathoracic displacement. Computed tomography showed additional abnormalities including increased left ventricular volume with extrathoracic apical aneurysmal dilatation below the xiphoid process at the level of anterior abdominal wall, a hypoplastic right ventricle, partial transparietal herniation of the left hepatic lobe adjacent to a left ventricular diverticulum, and an adrenal hematoma. The newborn received intensive medical management during his first week of life; however, surgical management had to be postponed owing to his unstable condition. Eventually, it was performed on the 14th day of life, but unfortunately, the newborn died shortly after the procedure.

The persistence of superior left vena cava (PLSVC) is a pathological condition in fetus with risk of association with abnormalities like fetuses heterotaxy, cardiac abnormalities -atrioventricular septum defect, and conotruncal anomalies. In this paper we report 23 cases of fetuse with PLSVCs, reviewing their diagnosis, co-morbidities, and evolution in the newborns.

Kawasaki disease (KD) is a febrile vasculitis, which is commonly defined by fever and at least four specific clinical symptoms. Incomplete KD is defined by suggestive echocardiographic findings with an incomplete clinical picture. Refractory KD is diagnosed in patients resistant to intravenous immunoglobulin (IVIG). We report the case of a 6-month-old male infant admitted to our clinic for persistent fever and onset of a generalized polymorphous rash, accompanied by high fever, rhinorrhea, and cough for the past 7 days. The laboratory tests, on the day of admission, revealed leukocytosis with neutrophilia, anemia, thrombocytosis, hypernatremia, hypoalbuminemia, elevated C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). Echocardiography showed dilation of the left anterior descending coronary artery (LAD). Based on all these findings, we established the diagnosis of KD, and we initiated IVIG and intravenous pulsed methylprednisolone, with an initial favorable outcome. However, the symptoms reappeared, and we administered a second higher single dose of IVIG, but without any clinical improvement. Moreover, the laboratory parameters and echocardiographic findings worsened. We reinitiated a longer course of intravenous methylprednisolone in a smaller dose, which had a favorable impact on the clinical, laboratory, and echocardiographic parameters. Multiple uncertainties exist related to the management of refractory KD despite the wide spectrum of therapeutic options that have been proposed. Our case demonstrates that in patients refractory to aggressive initial therapy, low or moderate doses of steroid given daily may be helpful.

Sustained fetal tachycardias are rare but represent a high risk of mortality and morbidity. Consensus has yet to be found regarding their optimal management. The aim of this narrative review is to summarize the data available in the current literature regarding the efficacy and safety of medications used in the management of intrauterine tachyarrhythmias and to provide possible treatment protocols. In this review, we would like to emphasize the importance of a thorough evaluation of both the fetus and the mother, prior to transplacental antiarrhythmic drug initiation. Factors such as the hemodynamic status of the fetus, possible mechanisms of fetal arrhythmia, and concomitant maternal conditions are of primordial importance. As a possible treatment protocol, we would like to recommend the following: due to the risk of sustained supraventricular tachycardia (SVT), fetuses with frequent premature atrial beats should be evaluated more frequently by echocardiography. A careful hemodynamic evaluation of a fetus with tachycardia is primordial in forestalling the appearance of hydrops. In the case of atrial flutter (AFL), sotalol therapy could represent a first choice, whereas when dealing with SVT patients, flecainide should be considered, especially for hydropic patients. These data require consolidation through larger scale, non-randomized studies and should be handled with caution.

Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

The role of eNOS and AGT gene polymorphisms in secondary pulmonary arterial hypertension in Romanian children with congenital heart disease Rolul polimorfismelor genelor eNOS şi AGT în hipertensiunea pulmonară secundară la copiii cu boală cardiacă congenitală din România

IntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and medium sized arteries.Case reportWe present the first case report of successful surgical treatment of severe aortic arch obstruction by calcified plaques mimicking severe coarctation of the aorta and the outcome (of bisphosphonate therapy) in a newborn with GACI. Furthermore, we report the identification of a variant in ATP Binding Cassette Subfamily C, Member 6 (ABCC6) gene, possibly associated with severe early-onset manifestations of GACI.ConclusionThis case report highlights the importance of considering GACI in an infant with heart failure, systemic hypertension, and evidence of increased echogenicity of the arterial vessels. We noted the favorable outcome in improving the aortic calcification in our patient after surgical treatment and bisphosphonates therapy. Early diagnosis and treatment improve the long-term prognosis. A better understanding of this rare genetic disease could lead to new therapeutic strategies.

The use of the combination between the three studied parameters with their cut-off score prediction decreases the false positive diagnosis of AoCo. The fetuses with ventricular disproportion developed only in the last trimester, had reduced chances for AoCo.