June

Echocardiographic predictors of recoarctation following surgical repair – a Swedish national study

Echocardiographic predictors of recoarctation following surgical repair - a Swedish national study View Article Weismann CG, Grell BS, Odermarsky M, Mellander M, Liuba P. Ann Thorac Surg. 2020 Jun 30:S0003-4975(20)31030-4. doi: 10.1016/j.athoracsur.2020.05.062. Online ahead of print. PMID: 32619613 Take Home Points: Post-operative pre-discharge echocardiography dimensions predicted risk for re-coarctation. Both the dimension-based and Z-score based algorithms predicted re-coarctation risk accurately. Patients with an aortic isthmus Z-score of < -2.8 and a weight of < 4.4kg at time of surgery or a proximal aortic arch Z score < -2.8 were deemed high risk and at greatest risk for re-coarctation. Prudent regular follow-up in these patients were advised. In 75% of cases, re-coarctation occurred within the first 6 months post-surgery. Commentary from Dr. Blanche Cupido (Cape Town, South Africa), section editor of ACHD Journal Watch:   Coarctation of the aorta is frequently repaired surgically in the neonatal period. The surgical procedure performed depends on the presence and degree of arch hypoplasia as well as the associated anomalies. A widely variable rate of  re-coarctation is reported. Previous factors associated with an increased risk included:  infants <2kg, pre-operative aortic arch hypoplasia, lower ascending aortic root dimensions, BP gradient at discharge of >13mmHg and age of initial repair < 1-3 months. There is conflicting evidence regarding the type of repair on re-coarctation rates. This retrospective Swedish study aimed to identify post-operative pre-discharge echocardiography features predictive of re-coarctation.  The cohort consisted of all patients in Sweden with a biventricular circulation who underwent surgical coarctation repair between 2011 and 2017. Demographic, clinical and surgical data was collected in addition to the echocardiographic data. All echocardiograms were analysed and reported by one senior operator who was blinded to the outcomes. A total of 289 patients were identified – 8 international patients, 5 deaths and 23 with missing echo information were excluded. The final analysis included 253 patients with a median age of repair of 10 days and median weight 3.6 kg. An end-to-end anastomosis was done in 149 patients (59%), an end-to-side anastomosis in 52 (21%), a subclavian flap repair in 2 patients (1%), and a patch augmentation in 50 (20%). Associated simultaneous other cardiac surgery was performed in 64 (25%) of patients, with VSD being the most common associated defect. Complex associated surgery was done in an additional 30% (n=19), including arterial switch operations, Rastelli, AVSD repairs and a truncus arteriosus repair. Re-coarctation occurred in 34 patients (13%) at a median follow-up of 3.9 years. All but 2 patients had balloon angioplasty for re-coarctation. Twenty-five (74%) occurred within 6 months and 31 (91%) within one year following  surgical repair. Patients with re-coarctation were younger and had a lower birth weights and BSA at time of repair and were more likely to have patch augmentation and associated simultaneous congenital surgery for other lesions. When adjusting for associated surgery, patch augmentation did not remain as a risk factor for re-coarctation. Aortic valve dimensions but not Z scores was significantly smaller in the re-coarctation group. The re-coarctation group also had significantly smaller proximal and distal aortic arch and isthmus dimensions on pre-discharge echo. The mean gradient across the isthmus was higher in those who developed subsequent re-coarctation. Based on the aortic isthmus dimension, 3 risk categories were identified – high (<3.3mm), moderate-high (>3.3-3.7mm) and low risk (>3.7mm). In the high risk group, 67% developed re-coarctation, 32% in the moderate group and 5% in the low risk group. Using Z scores instead of dimensions resulted in a more sensitive screening algorithm. Those at greatest risk of  re-coarctation had an aortic isthmus Z score of <-2.8 and a weight of < 4.4kg. This algorithm had a sensitivity of 71% and a specificity of 92% with a positive predictive value of 59% and a negative predictive value of 95%.

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Changes in REVEAL risk score in patients with pulmonary arterial hypertension treated with macitentan in clinical practice: results from the PRACMA study

Changes in REVEAL risk score in patients with pulmonary arterial hypertension treated with macitentan in clinical practice: results from the PRACMA study View Article Escribano-Subias P, López R, Almenar L, Lázaro M, Forn I, Torrent A, Blanco I, Barberà JA; PRACMA investigators. BMC Pulm Med. 2020 Jun 2;20(1):154. doi: 10.1186/s12890-020-01197-5. PMID: 32487059 Take Home Points: REVEAL = Registry to Evaluate Early and Long-Term PAH Disease Management. The PRACMA study is a Spanish retrospective, observational analysis of patients with pulmonary hypertension or pulmonary arterial hypertension associated with connective tissue disease or CHD. All patients were treated with macitentan for > 6 months as monotherapy or as part of combined therapy. The REVEAL risk score and risk strata were calculated at the start of macitentan treatment and > 6 months in patients with > 7 out of 12 valid REVEAL components In the final analysis, 57 patients had enough data to calculate a REVEAL score Median time of macitentan treatment was 10.5 months. The mean REVEAL score was 8.7 points at baseline and 7.2 points after > 6 month follow up. REVEAL components which significantly improved with macitentan treatment were WHO class (64% class III at initiation and 24% after > 6 months, p=0.00001); 6 minute walk test (mean change 42m, p<0.01); BNP or NTproBNP (mean change of -157pg/ml and -530 pg./ml, respectively, p<005) and pulmonary vascular resistance (mean change -3.4 WU, p<0.01). Only 12% of patients (n=10) had ACHD. Commentary from Dr. Damien Cullington (Liverpool, UK), section editor of ACHD Journal Watch:  The PRACMA study is a Spanish observational dataset of patients with inherited and acquired pulmonary hypertension (PH) – only 12% of patients in this study had congenital heart disease. 28 PH centres in Spain contributed data between Sept 2016-Sept 2017. This primary aim was to measure change in REVEAL risk score in patients with PH who were started on macitentan treatment. The REVEAL score (originally published in 2012) is calculated from 12 variables (Figure 1). It is generically used  as a composite measure of disease stability/improvement/deterioration in patients with PH. In the analysis, ‘incident’ patients were defined as those diagnosed < 6 months prior to starting macitentan. ‘Prevalent’ patients were those diagnosed with PH > 6 months before starting macitentan. The REVEAL risk score was calculated at baseline and at > 6 month time points. Patients were selected with at least 7/12 valid components. Although 88 patients were originally assessed for eligibility for this analysis, only 57 patients of the original group had enough data points to calculate a REVEAL score. The demographics of the baseline dataset are shown in Table 1. Results At baseline, the mean REVEAL score was 8.7 points, and at > 6 month time point, had decreased to 7.2 points – the mean change in score was -1.4 (-2.0, -0.9 ) points (p<00001). In the ‘incident’ patient group, the REVEAL score improved in 61% versus, in the ‘prevalent’ group, 56% of patients’ REVEAL scores improved. A more detailed analysis of the change in REVEAL risk score within incident/prevalent groups and according to their mono or combination therapy with macitentan is shown in Table 2. The REVEAL score improved in 57% of patients - 26% had no change and it increased in 16% (Figure 2). The mean effect of Macitentan in a aetiologically heterogenous cohort of patients with PH is an improvement functional capacity and objective measures such as 6MWT, natriuretic peptide levels and PVR in patients with PH who are new to treatment (‘incident’) or who are known to have PH and macitentan is introduced either as an add on agent or new treatment (Table 3). Table 3. Changes in individual REVEAL components at > 6-month time point Limitations This observational study had very low numbers of ACHD patients and we should not be tempted to draw generic conclusions to then generically treat ACHD-PH patients with macitentan. The MAESTRO study in 2019, which enrolled patients with Eisenmenger syndrome, showed that macitentan had no statistically significant benefit compared to placebo in terms of improving exercise capacity over a 4 month follow up. Further research and longer term follow up will be helpful to guide longer term treatment decisions. Conclusions Macitentan is no doubt useful agent in the therapeutic armamentarium to selectively treat patients with PH. The PRACMA study shows that therapeutic improvements are possible in patients either as a mono-agent treatment or as part of a combined regimen – improvements are seen in REVEAL score across all severities of PH. This was a relatively small study group with mixed aetiology of PH and a very small number of patients with ACHD. Extrapolating these results to specifically guide treatment choice in our patient group requires caution and comparative review of other larger studies.    

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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. Fiot E, Zénaty D, Boizeau P, Haignere J, Dos Santos S, Léger J; French Turner Syndrome Study...

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