Telemedicine Network in Pediatric Cardiology: The Case of Tuscany Region in Italy

Four years ago, a telemedicine project in diagnosis and care of congenital cardiac malformations was developed in Tuscany interconnecting the Heart Hospital of Gabriele Monasterio Tuscany Foundation (FTGM) in Massa with main clinical centers around the region. Both live and store-and-forward tele-echocardiography were implemented, while the FTGM medical record system was applied for collaborative reporting. Mobile medical-grade carts, equipped with videoconferencing and computer units, were installed at main neonatology/pediatric centers throughout the Tuscany region. Today, 13 hospitals are connected to the network, while the MEYER Pediatric University Hospital (MEYER) in Firenze has recently adhered to the project, as HUB center jointly with FTGM, so enabling H24 telemedicine service in pediatric cardiology throughout the region. So far, more than 200 patients were diagnosed and followed by telemedicine

4-Dimensional Velocity Mapping Cardiac Magnetic Resonance of Extracardiac Bypass for Aortic Coarctation Repair

Abstract This report describes a case of a young lady who, following extracardiac bypass between ascending and descending aorta for severe aortic coarctation, underwent 4-dimensional flow cardiac magnetic resonance, a technique that, by 3-dimensional flow assessment over time (4-dimensional), allows not only quantification of flows but also wall shear stress. In this case, increased wall shear stress was observed in the conduit's acute angle (kinking) as well as at the distal anastomosis level. The authors postulate that increased wall shear stress could help identify and risk stratify adult congenital heart disease who could develop vascular complications in the future. ( Level of Difficulty: Intermediate.

The role of cardiovascular magnetic resonance in candidates for Fontan operation: Proposal of a new Algorithm

<p>Abstract</p> <p>Background</p> <p>To propose a new diagnostic algorithm for candidates for Fontan and identify those who can skip cardiac catheterization (CC).</p> <p>Methods</p> <p>Forty-four candidates for Fontan (median age 4.8 years, range: 2-29 years) were prospectively evaluated by trans-thoracic echocardiography (TTE), Cardiovascular magnetic resonance (CMR) and CC. Before CC, according to clinical, echo and CMR findings, patients were divided in two groups: Group I comprised 18 patients deemed suitable for Fontan without requiring CC; group II comprised 26 patients indicated for CC either in order to detect more details, or for interventional procedures.</p> <p>Results</p> <p>In Group I ("CC not required") no unexpected new information affecting surgical planning was provided by CC. Conversely, in Group II new information was provided by CC in three patients (0 vs 11.5%, p = 0.35) and in six an interventional procedure was performed. During CC, minor complications occurred in one patient from Group I and in three from Group II (6 vs 14%, p = 0.7). Radiation Dose-Area product was similar in the two groups (Median 20 Gycm², range: 5-40 vs 26.5 Gycm², range: 9-270 p = 0.37). All 18 Group I patients and 19 Group II patients underwent a total cavo-pulmonary anastomosis; in the remaining seven group II patients, four were excluded from Fontan; two are awaiting Fontan; one refused the intervention.</p> <p>Conclusion</p> <p>In this paper we propose a new diagnostic algorithm in a pre-Fontan setting. An accurate non-invasive evaluation comprising TTE and CMR could select patients who can skip CC.</p

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

BACKGROUND: The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). METHODS: All the coding exons including adjacent intronic as well as 5(′) and 3(′) untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members. RESULTS: Two novel mutations, a missense and a nonsense mutation (Exon 5, p.P284L; Exon 26, p.Y1619X), were found in the NOTCH1 gene in two unrelated families. The mutations segregated with the disease in these families, and they were not found on 200 unrelated chromosomes from ethnically matched controls. No pathogenetic mutation was identified in GATA5, TGFBR1 and TGFBR2 genes. CONCLUSIONS: Two novel NOTCH1 mutations were identified in two Italian families with BAV, highlighting the role of a NOTCH1 signaling pathway in BAV and its aortic complications. These findings are of relevance for genetic counseling and clinical care of families presenting with BAV. Future studies are needed in order to unravel the still largely unknown genetics of BAV

Role of semisupine exercise stress echocardiography in operated Fallot

Background: Right Ventricle (RV) outflow tract anomalies in operated Tetralogy of Fallot (TOF) leads to RV dysfunction. Due to the difficulties to its assessment, timing of RV outflow reconstruction is still a matter of debate. Semi-supine exercise echo (SEE) has potential for simultaneous evaluation of RV function, pressure, and area changes during stress. Aim to assess the feasibility and value of SEE in operated TOF. Methods: we evaluated 62 consecutive operated Fallot by SEE (mean age 24 ? 11 years, 16 pts were less than 18 y. o.). The following parameters were measured at rest and peak exercise: RV area (from apical 4 chamber view), Tricuspid annular plane systolic excursion (TAPSE), Right ventricular pressure (RVP, from tricuspid regurgitant jet velocity); RV fractional area change (RV-FAC). Within 3 days, all patients also underwent cardiac Magnetic Resonance, Cardio-pulmonary Exercise Test and Amino-Terminal pro-Brain Natriuretic Peptide (NT-proBNP) essay. Results: Exercise was stopped at 105 ? 35 Watt; heart rate increased from 83 ?16 bpm to 149 ?17 bpm. During exercise, interpretable images for RV FAC analysis were obtained in 56/62 patients (RV FAC feasibility = 90 %). Due to continent tricuspid valve in 7 patients RVP we couldn\u27t been measured (RVP feasibility = 89%). There was on average an increase in RVP (rest = 45 ? 18 vs. stress= 78 ? 37 mmHg, p<0.01 vs. rest), TAPSE (rest=15?4 vs. stress= 18? 3 mm , p<0.01 vs. rest), and RV-FAC (rest= 48? 9 vs. stress= 52 ? 8 % , p<0.05 vs. rest), with substantial individual variability. In particular, RV FAC increased in 40 ("responders") and remained stable or decreased in the remaining 9 pts, all of them > 18 y.o. ("non responders") (see figure). Compared to responders, non-responders had higher NT-proBNP (366 ? 264 vs 127 ? 92 ng/l,p<0.001), lower peak VO2/Kg (15 ? 4.4 vs 22 ? 5.4 ml/Kg/min, p<0.001), larger MRI-assessed RV End diastolic volume (166 ?61 vs 130 ? 42 ml/m2, p<0.05) and end systolic volume (86 ml/m2 ? 29 vs 58 ? 25, p<0.001) and lower RV EF (47 ? 8 vs 56 ? 8.5 %, p<0.01). Conclusion: SEE is feasible in patient with repaired TOF and allows the integrated assessment of variation of RV pressures, area, and function during exercise, which usefully complement more conventional indices of hemodynamic burden in these patients. Longitudinal follow-up is needed to better delineate the prognostic value of such SEE results