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.

Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay. Different techniques for investigation of cases with MCA and/or developmental delay are available ranging from karyotyping to molecular cytogenetic technique and ultimately multiplex ligation dependent probe amplification (MLPA). Here we present a patient with multiple congenital anomalies for which classical cytogenetic technique was used as a first step in diagnosis and the results being confirmed by MLPA. The karyotype disclosed a sSMC considered to be a fragment of chromosome 22. The MLPA analysis using SALSA MLPA probemix P064-C2 Microdeletion Syndromes-1B confirmed the karyotype results, and according to the manufacturer’s recommendation we performed another confirmation analysis with MLPA probemix P311-B1 Congenital Heart Disease and MLPA probemix P250-B2 DiGeorge. We also suspected an Emanuel syndrome and performed another MLPA analysis with SALSA MLPA probemix P036-E3 Subtelomeres Mix 1 and probemix P070-B3 Subtelomeres Mix 2B for investigation of subtelomeric region that revealed a duplication of 11q25 region and the confirmation was performed using SALSA MLPA probemix P286-B2 Human Telomere-11. In conclusion, we consider that MLPA is a valuable method for identification of sSMC in children with developmental delay and congenital anomalies. Genetic diagnosis using different molecular techniques, such as MLPA, for increasing accuracy in identification of chromosomal structural aberrations has an important role in clinical diagnosis and in genetic counselling and our case explain the importance of using a specific laboratory technique for each stage of diagnosis.

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.

Data regarding reference intervals for strain parameters derived from 2D speckle-tracking echocardiography in full-term newborns are limited and still under development. Our objectives were to establish the level of reproducibility and reference intervals in assessing myocardial function using 2D speckle-tracking echocardiography for longitudinal and regional strain measurements. A total of 127 full-term newborns were examined to be included in the study, of which 103 were analyzed. We used two-dimensional acquisitions from apical four-chamber view of both ventricles and analyzed the autostrain function offline. We obtained interobserver agreement between the two observers ranging from good to excellent for all speckle-tracking parameters except for the strain of the medial portion of the left ventricle (LV) lateral wall and the strain measured on the basal portion of the inter-ventricular septum, which reflected a fair interobserver reproducibility (ICC = 0.52, 95% IC: 0.22–0.72 and ICC = 0.43, 95% IC: 0.12–0.67, respectively). The reference values obtained for the LV peak longitudinal strain were between −24.65 and −14.62, those for the right ventricle (RV) free wall were from −28.69 to −10.68, and those for the RV global four-chamber were from −22.30 to −11.37. In conclusion, two-dimensional peak longitudinal LV and RV strains are reproducible with good to excellent agreement and may represent a possible alternative for the cardiac assessment of healthy newborns in the clinical practice.