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Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

Int J Cardiol. 2017 Oct 15;245:92-98

Authors: Calcagni G, Limongelli G, D'Ambrosio A, Gesualdo F, Digilio MC, Baban A, Albanese SB, Versacci P, De Luca E, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Russo MG, Pacileo G, Milanesi O, Messina D, Marasini M, Cairello F, Formigari R, Brighenti M, Dallapiccola B, Tartaglia M, Marino B

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy.
METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis.
RESULTS: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20years, respectively. Restricted estimated mean survival at 20years follow-up was 19.6years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age <2years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death.
CONCLUSIONS: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death.

PMID: 28768581 [PubMed - indexed for MEDLINE]

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The Role of Pulmonary Scintigraphy in the Evaluation of Adults with Congenital Heart Disease.

Semin Nucl Med. 2017 Nov;47(6):660-670

Authors: Itani M, Matesan M, Ahuja J, Bermo M, Habib AS, Goiney C, Krieger EV, Vesselle H

Adults with congenital heart disease represent a growing population with challenging and complex medical management. Pulmonary scintigraphy can play a valuable role in the evaluation and care of this patient population. We present a review of the variety of clinical scenarios where pulmonary scintigraphy can be helpful in the evaluation of adults with congenital heart disease, along with technical considerations associated with these studies.

PMID: 28969764 [PubMed - indexed for MEDLINE]

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Rheumatic heart disease in pregnancy: a report of 2 cases.

Pan Afr Med J. 2017;28:298

Authors: Ziruma A, Nyakanda MI, Muyotcha AF, Hove FN, Madziyire MG

Pregnant women with severe mitral stenosis tend to experience clinical decompensation with approximately 50% mortality and they may experience adverse effects of the medication they are taking, notably congenital malformations from warfarin exposure. Corrective heart surgery may increase the risk of pregnancy loss. We present 2 cases of RHD in pregnancy. The first case was a 27-year-old patient in her first pregnancy with severe mitral stenosis. Caesarean section was done for foetal distress and she delivered a small for gestational age baby. She was closely monitored postpartum and was stable on discharge. She presented with supraventricular tachycardia and died in the coronary care unit 4 weeks postpartum. The second case was a 28-year-old who was on warfarin for a mechanical mitral valve. A foetal anomaly scan done at 20 weeks showed severe congenital malformations which were not compatible with extra-uterine life. The pregnancy was terminated and she recovered well. The first case illustrates the significant mortality risk with uncorrected severe rheumatic heart disease. The second case highlights the risks of warfarin on the foetus and the need to avoid mechanical heart valves if possible in young women. RHD patients require preconception counselling so they can make informed reproductive choices.

PMID: 29721129 [PubMed - indexed for MEDLINE]

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A stepwise composite echocardiographic score predicts severe pulmonary hypertension in patients with interstitial lung disease.

ERJ Open Res. 2018 Apr;4(2):

Authors: Bax S, Bredy C, Kempny A, Dimopoulos K, Devaraj A, Walsh S, Jacob J, Nair A, Kokosi M, Keir G, Kouranos V, George PM, McCabe C, Wilde M, Wells A, Li W, Wort SJ, Price LC

European Respiratory Society (ERS) guidelines recommend the assessment of patients with interstitial lung disease (ILD) and severe pulmonary hypertension (PH), as defined by a mean pulmonary artery pressure (mPAP) ≥35 mmHg at right heart catheterisation (RHC). We developed and validated a stepwise echocardiographic score to detect severe PH using the tricuspid regurgitant velocity and right atrial pressure (right ventricular systolic pressure (RVSP)) and additional echocardiographic signs. Consecutive ILD patients with suspected PH underwent RHC between 2005 and 2015. Receiver operating curve analysis tested the ability of components of the score to predict mPAP ≥35 mmHg, and a score devised using a stepwise approach. The score was tested in a contemporaneous validation cohort. The score used "additional PH signs" where RVSP was unavailable, using a bootstrapping technique. Within the derivation cohort (n=210), a score ≥7 predicted severe PH with 89% sensitivity, 71% specificity, positive predictive value 68% and negative predictive value 90%, with similar performance in the validation cohort (n=61) (area under the curve (AUC) 84.8% versus 83.1%, p=0.8). Although RVSP could be estimated in 92% of studies, reducing this to 60% maintained a fair accuracy (AUC 74.4%). This simple stepwise echocardiographic PH score can predict severe PH in patients with ILD.

PMID: 29750141 [PubMed]

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Pregnancy in Women With a Fontan Circulation: A Systematic Review of the Literature.

Circ Cardiovasc Qual Outcomes. 2018 May;11(5):e004575

Authors: Garcia Ropero A, Baskar S, Roos Hesselink JW, Girnius A, Zentner D, Swan L, Ladouceur M, Brown N, Veldtman GR

BACKGROUND: The Fontan operation has provided life-saving palliation and adult survival for individuals born with single ventricle physiology. Many now seek advice about safe pregnancy. Little data are, however, available, consisting mainly of anecdotal experience and small series. This article seeks to review the published literature and identify lessons learnt from this collective experience.
METHODS AND RESULTS: We conducted a systematic review to evaluate maternal and fetal outcomes of pregnancy in women with a Fontan circulation. Among 1150 studies that were screened, 6 studies had sufficient longitudinal data points to qualify for meaningful inclusion, yielding 255 pregnancies in 133 women after Fontan procedure resulting in 115 live births (45%; including reports from 1986 to 2015). There was a total of 137 pregnancy losses (69%), with 115 miscarriages (45%), 19 elective terminations of pregnancy (7%), 2 stillbirths (1%), and 1 ectopic pregnancy (1%).The most common cardiovascular adverse events were supraventricular arrhythmia affecting 8.4% (range, 3%-37%) and heart failure affecting 3.9% (range, 3%-11%) of pregnancies. These complications were successfully managed with conventional approaches. No maternal deaths were reported. Postpartum hemorrhage was the predominant obstetric complication affecting 14% of the patients. Most patients were on antiplatelet agents (27%) or anticoagulants (50%) whereas only a minority (11%) were on neither. Among the 115 live births, 68 were premature (59%), 17 were small for gestational age (20%), and neonatal death occurred in 6 patients (5%).
CONCLUSIONS: The most commonly reported cardiovascular complications in patients with Fontan physiology-associated pregnancy were arrhythmia and heart failure. Miscarriages were highly prevalent as was prematurity and intrauterine growth restriction. Postpartum hemorrhage seems to be the most common obstetric complication. Large-scale data sets are needed to confirm these early observations and address the late sequelae of pregnancy in women with a Fontan circulation.

PMID: 29752389 [PubMed - in process]

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Long-term outcome of preadolescents, adolescents, and adult patients undergoing total cavopulmonary connection.

J Thorac Cardiovasc Surg. 2018 Apr 12;:

Authors: Ono M, Beran E, Burri M, Cleuziou J, Pabst von Ohain J, Strbad M, Röhlig C, Hager A, Hörer J, Schreiber C, Lange R

OBJECTIVES: Patients with a single ventricle infrequently undergo total cavopulmonary connection as preadolescents, adolescents, or adults. The purpose of this study was to clarify the characteristics of this cohort and to analyze the factors influencing outcomes.
METHODS: Between 1994 and 2015, 50 of 460 patients underwent total cavopulmonary connection as preadolescents, adolescents, or adults (group A). The patients' characteristics and operative results were compared with those of the remaining 410 patients aged less than 9 years who underwent total cavopulmonary connection (group B). Post-total cavopulmonary connection echocardiogram reports (n = 4862) were used to evaluate longitudinal ventricular function, and ejection fraction was characterized using nonlinear mixed-effects models and compared between groups.
RESULTS: The median follow-up time was 10.3 (2.8-15.5) years. The differences between groups in 30-day mortality (P = .20), intensive care unit stay (P = .20), and incidence of prolonged effusion (P = .08) were not significant. The estimated survival at 15 years was lower in group A (86.5%) than in group B (94.0%, P = .04) patients. Long-term systemic ventricular ejection fraction, analyzed with linear mixed-effect models, was significantly reduced in group A than in group B patients (P < .001). At a median postoperative period of 8.4 (7.1-10.5) years, the peak oxygen uptake as measured by exercise capacity testing was lower in group A than in group B patients, respectively (22.3 ± 6.5 [n = 25] vs 30.6 ± 8.1 [n = 100] mL/kg/min, P < .001).
CONCLUSIONS: The total cavopulmonary connection procedure was performed in preadolescent, adolescent, and adult patients with no significant difference in 30-day or hospital mortality compared with those in young children. However, long-term survival and ventricular performance were reduced in this older cohort.

PMID: 29753512 [PubMed - as supplied by publisher]

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Association of Pre-Operative Cell Counts With Outcomes after Surgery for Congenital Heart Disease.

Ann Thorac Surg. 2018 May 10;:

Authors: Jones S, McCracken C, Alsoufi B, Mahle WT, Oster ME

BACKGROUND: We examined the association of pre-operative cell count abnormalities, which have been shown to be associated with outcomes in adult cardiac patients, with morbidity and mortality following surgery for congenital heart disease (CHD) in children.
METHODS: We performed a retrospective cohort study on 4865 children undergoing cardiac surgery from 2004- 2014. Our exposures of interest were presence of pre-operative lymphopenia (lymphocyte count ≤ 3000 cells/μL), thrombocytopenia (platelet count < 150 x103/ μL), and neutrophilia (neutrophil count ≥ 7000 cells/ μL). Our outcomes of interest were mortality status, post-operative length of stay (LOS), and occurrence of post-operative complications. We performed logistic and linear regressions to determine the associations of pre-operative cell counts with mortality, LOS, and complications, adjusting for age, gender, race/ethnicity, presence of a genetic syndrome, and STS-EACTS Congenital Heart Surgery Mortality Category.
RESULTS: Overall mortality was 2.8%, median LOS was 6 days, and 7.6% of patients had post-operative complications. Lymphopenia was associated with increased odds of post-operative mortality (OR 1.67, 95% CI 1.15-2.43, p = 0.007). Lymphopenia, thrombocytopenia, and neutrophilia were all associated with longer post-operative LOS. Lymphopenia and thrombocytopenia were associated with increased occurrence of post-operative sepsis, and neutrophilia was associated with need for post-operative mechanical circulatory support.
CONCLUSIONS: In children undergoing CHD surgery, pre-operative lymphopenia is associated with increased in-hospital mortality post-operatively. Pre-operative lymphopenia, neutrophilia and thrombocytopenia are associated with longer post-operative LOS and with development of post-operative complications. Pre-operative cell counts may serve as important prognostic markers in pre-operative planning for CHD patients.

PMID: 29753820 [PubMed - as supplied by publisher]

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Balloon-expandable stents for recoarctation of the aorta in small children. Two centre experience.

Int J Cardiol. 2018 Jul 15;263:34-39

Authors: Gendera K, Ewert P, Tanase D, Georgiev S, Genz T, Bambul Heck P, Moszura T, Malcic I, Cleuziou J, Eicken A

BACKGROUND: In young patients with native aortic coarctation (CoA), the management of choice is surgery. However, in re-coarctation (re-CoA) surgery is associated with increased morbidity and even mortality. Some children with native CoA present relative contraindications for surgery.
METHODS: From 2006 to 2017, thirty-four patients (male n = 20; 59%) from two centres with re-CoA (31) and native CoA (3) were managed by stent implantation with premounted balloon expandable stents. Inclusion criteria were age < 3 years and >1 month, weight < 16 kg. Median age was 6,5 months (min. 1; max. 34 months), median weight 6,2 kg (min. 3,7; max. 16 kg). Thirteen patients (38%) had Re-CoA and hypoplastic left heart syndrome (HLHS). In three patients (9%) the native CoA was stented due to contraindications for surgical treatment.
RESULTS: All procedures were successful. The median peak invasive systolic pressure gradient declined from 31 mm Hg (max. 118; min. 4) to 0 mm Hg (max. 32; min.-7) (p < 0.001). The median minimal diameter of the narrowed segment of aorta increased from 3 mm (max. 6,9; min. 1,0) to 7 mm (max. 11,5; min. 3,5) (p < 0.001). There were no serious complications. The median follow-up time was 12,5 months (max. 88; min. 0 month). During this time ten patients (29%) required re-dilatation and two of them re-stenting.
CONCLUSION: Percutaneous stent implantation for Re-CoA and in selected patients for native CoA can be performed successfully in very young patients with a good immediate hemodynamical result. However, repeated stent angioplasties and further on interventional 'opening' of the stent is necessary to augment the aorta to adult size.

PMID: 29754919 [PubMed - in process]

Mechanical Circulatory Support of the Right Ventricle for Adult and Pediatric Patients With Heart Failure.

ASAIO J. 2018 May 10;:

Authors: Chopski SG, Murad NM, Fox CS, Stevens RM, Throckmorton AL

The clinical implementation of mechanical circulatory assistance for a significantly dysfunctional or failing left ventricle as a bridge-to-transplant or bridge-to-recovery is on the rise. Thousands of patients with left-sided heart failure are readily benefitting from these life-saving technologies, and left ventricular failure often leads to severe right ventricular dysfunction or failure. Right ventricular failure (RVF) has a high rate of mortality caused by the risk of multisystem organ failure and prolonged hospitalization for patients after treatment. The use of a blood pump to support the left ventricle also typically results in an increase in right ventricular preload and may impair right ventricular contractility during left ventricular unloading. Patients with RVF might also suffer from severe pulmonary dysfunction, cardiac defects, congenital heart disease states, or a heterogeneity of cardiophysiologic challenges because of symptomatic congestive heart failure. Thus, the uniqueness and complexity of RVF is emerging as a new domain of significant clinical interest that motivates the development of right ventricular assist devices. In this review, we present the current state-of-the-art for clinically used blood pumps to support adults and pediatric patients with right ventricular dysfunction or failure concomitant with left ventricular failure. New innovative devices specifically for RVF are also highlighted. There continues to be a compelling need for novel treatment options to support patients with significant right heart dysfunction or failure.

PMID: 29757759 [PubMed - as supplied by publisher]

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Threading the Eye of a Needle: Successful Implantation of Defibrillator Leads Through a Stent Strut After Treatment for Complex Superior Vena Cava Obstruction.

JACC Clin Electrophysiol. 2017 May;3(5):528-529

Authors: Chen Z, Kontogeorgis A, Uebing A, Wong T

PMID: 29759613 [PubMed - in process]