Genetic substrate in congenital aortopathies in children

Universitatea de Stat de Medicină şi Farmacie “Nicolae Testemiţanu”, Departamentul Pediatrie, IMSP Institutul Mamei şi Copilului, Institutul de Urgenţă pentru Boli Cardiovasculare şi Transplant, Târgu Mureş, România, IMSP Spitalul Clinic Republican „Timofei Moşneaga”, Chișinău, Republica MoldovaIntroducere. Aortopatiile congenitale (AoC) ocupă un loc important în patologia cardiovasculară la populaţia pediatrică care decurg fecvent asimptomatic şi pot fi o cauză a complicaţiilor de tip anevrism, dilatare, disecţie, ruptură de aortă, complicaţii în cele mai frecvente cazuri fatale. În ultimul deceniu au fost descoperite defecte genetice care stau la baza afecţiunilor aortice ducând la constituirea grupurilor moleculare omogene de anevrisme şi disecţii aortice toracice. Obiectivul studiului a fost orientat spre morfometria aortei la aceşti pacienţi prin intermediul ecocardiografi ei Doppler color şi calcularea scorurilor Z. Material şi metode. Au fost selectaţi 71 de copii cu AoC, (52 băieţi şi 19 fete) confi rmate ecocardiografi c. Vârsta medie a constituit 9,26 ±1,7 ani. Mediu de provenienţă: urban – 15,6%, rural - 84,4%. Din totalul de pacienţi cu AoC – 5% au fost însoţite de un sindrom genetic confirmat. Rezultate şi discuţii: Eşantionul studiului a fost repartizat în două loturi conform datelor ecocardiogarfi ce a diametrelor aortice raportate la suprafaţa corporală. (scorurile Z după Detroit). Primul lot l-au constituit copiii cu AoC cu potenţial de dezvoltare a unei complicaţii de tip: anevrism, dilatare, disecţie, ruptură de aortă, iar al doilea lot – copiii cu AoC fără complicaţii. Din cele 5% de pacienţi cu sindroame genetice ce implică afectarea aortei cea mai mare rată ocupă sindromul Marfan apoi Turner după care Ehlers-Danlos, Holt-Oram. Riscul de a dezvolta o complicaţie în cadrul unei AoC l-au avut 42,3% din subiecţii cercetaţi, sindroamele genetice încadrîndu-se în acest lot. Concluzii: AoC ocupă un loc de frunte în rândul MCC la copii care necesită o abordare medicală complexă şi oportună pentru îmbunătăţirea calităţii vieţii. Copii cu patologie aortică necesită urmărire pe toată durata vieţii, indiferent de strategia iniţială de tratament (medical, intervenţional sau chirurgical). Această urmărire constă în evaluare clinicoparaclinică, reevaluarea terapiilor medicamentoase şi obiectivelor tratamentului, esenţială fi ind imagistica aortei. Conform ghidului Societăţii Europene cu privire la diagnosticul şi tratamentul bolilor de aorta – 2014 recomandabilă este efectuarea testelor genetice la aceşti copii.Introduction. Congenital aortic aneurysms (AoC) occupy an important place in cardiovascular pathology in the pediatric population, frequently occur asymptomatically, and may be a cause of complications such as aneurysm, dilation, dissection, aortic rupture, complications in the most fatal cases. In the last decade, have been discovered genetic defects that underlie aortic disorders, leading to the formation of homogeneous molecular clusters of aneurysms and thoracic aortic dissections. The objective of the study was directed to the morphometry of the aorta in these patients by Echo-CG doppler color and calculating the Z scores. Material and methods. 71 children with AoC were selected, (52 boys and 19 girls) confirmed by echocardiography. The mean age was 9.26 ± 1.7 years. Environment: urban - 15.6%, rural - 84.4%. Of the total patients with AoC -5%, they were accompanied by a confirmed genetic syndrome. Results and Discussion: The study sample was divided into two groups according to the echocardiographic data of the aortic diameters reported on the body surface of children with AoC (Z scores after Detroit). The first batch was made up of children with AoC with the potential to develop complications like: aneurysm, dilation, dissection, aortic rupture; and the second group of children with AoC without complications. Of the 5% of patients with genetic syndromes involving aorta affections, the highest rate is Marfan syndrome then Turner, after which Ehlers-Danlos, Holt-Oram. The risk of developing a complication within an AOC was 42.3% of the investigated subjects, genetic syndromes falling into this batch. Conclusions: AoC is at the forefront of MCC in children requiring a complex and timely medical approach to improving quality of life. Children with aortic pathology require lifelong follow-up, regardless of the initial treatment strategy (medical, interventional or surgical). This follow-up consists of clinical-paraclinical assessment, re-evaluation of drug therapies and treatment objectives, essential being aortic imaging. According to the European Society’s Guideline on the Diagnosis and Treatment of Aortic Disease-2014, genetic testing is recommended

Implantation of Covered Stent for Coarctation of the Aorta and Secondary Hypertension in Adolescents—Case Report

Introduction: Coarctation of the aorta represents a narrowing of the thoracic aorta. Hypertensive patients with blood pressure differences ≥20 millimetres of mercury have an indication for surgical or interventional treatment. Implantation of a covered stent became the preferred therapy for the management of this pathology in adolescents/adults. Case report: We report the case of a 14-year-old male sportsman, who presented in the emergency room with headache, dizziness, and tinnitus. The clinical exam revealed blood pressure differences between the upper and lower limbs of up to 50 mmHg. Based on the clinical and paraclinical data, we established the diagnosis of coarctation of the aorta and severe secondary arterial hypertension. The case was discussed by a multidisciplinary team and accepted for covered stent implantation. The 24 h blood pressure Holter monitoring after the procedure indicated the persistence of stage I arterial hypertension. Conclusions: Coarctation of the aorta is a congenital cardiovascular anomaly with high morbidity and mortality rates. Arterial hypertension, heart failure, and aortic dissection are complications of this pathology, some of them being sometimes direct consequences of secondary hypertension. Periodic cardiology follow up after the procedure is mandatory to assess the hemodynamic response, to identify potential complications, and to stratify the cardiovascular risk

Assessment of Biventricular Myocardial Function with 2-Dimensional Strain and Conventional Echocardiographic Parameters: A Comparative Analysis in Healthy Infants and Patients with Severe and Critical Pulmonary Stenosis

Our aim was to compare the global longitudinal and regional biventricular strain between infants with severe and critical pulmonary stenosis (PS), and controls; to compare pre- and post-procedural strain values in infants with severe and critical PS; and to assess the correlations between echocardiographic strain and conventional parameters. We conducted a retrospective single-center study. The comparisons of echocardiographic variables were performed using separate linear mixed models. The overall mean right ventricle (RV) regional strains measured before intervention in PS patients was significantly different when compared to the control group (p = 0.0324). We found a significant change in the left ventricle, RV, and inter-ventricular septum strain (IVS) values from basal to apical location (p p > 0.05). Following the strain analysis in patients with PS, we obtained statistically significant changes in the RV global-4-chamber longitudinal strain (RV4C). The RV4C, which quantifies the longitudinal strain to the entire RV, can be used in current clinical practice for the evaluation of RV function in infants with severe and critical PS. The longitudinal and segmental strain capture the pathological changes in the IVS, modifications that cannot be highlighted through a classical echocardiographic evaluation