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Background: Patients with Trisomy 21 are now living well into adulthood. Little data exists to assist the cardiologist in the care of these patients. We sought to examine the cardiac and general health status of adults with Trisomy 21 undergoing cardiac evaluation., Methods & Results: A retrospective review of all affected adults >21years followed at 2 tertiary care institutions was performed. Of 193 patients identified, median age was 31 (range 21.1-60.5) years. Cardiac surgery was performed in childhood in 127 with 30 patients who did not undergo surgery developing Eisenmenger syndrome. The remaining 36 patients did not warrant early surgical intervention. Six patients were lost to follow-up. Significant cardiac residua were present in 117 (62%). Arrhythmias were present in 53 (28%) with 15 having atrial fibrillation (8%). Non-cardiac comorbidities were common and included sleep apnea, pulmonary hypertension, thyroid dysfunction, thromboses and recurrent infections. Hospitalization in adulthood occurred in 58 patients (51%); pneumonia and cardiac related surgeries being the most common reasons for hospitalization. Average age of death (n=23) was 39.8±8.5years. Transition of care to an adult provider was uncommon occurring in 54 (27%) patients. On multivariate analysis, presence of younger age and absence of pulmonary hypertension were the sole predictors of survival for the group as a whole, as well as those patients without Eisenmenger syndrome., Conclusions: Adults with Trisomy 21 have frequent cardiac and non-cardiac co-morbidities. Cardiologists caring for these patients should be familiar with the adult acquired medical problems these patients encounter., (Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.)

The presence of pulmonary arterial hypertension (PAH) increases morbidity and reduces survival in patients with congenital heart disease (CHD). PAH-CHD is a heterogeneous condition, depending on the type of the underlying defect and previous repair strategies. There is growing evidence of the benefits of PAH-specific therapy in the PAH-CHD population, but despite recent advances mortality rates remain relatively high. In the last years, an increasing focus has been placed on patients with PAH-CHD and net left-to-right shunt. Currently, there are limited data to guide the management of these patients and uncertainty on the cut-off values for eventual defect closure. Pregnancy conveys significant risks in PAH-CHD patients: appropriate counselling and care, including psychological support and a multidisciplinary team, should be part of the routine management of women with PAH-CHD of reproductive age. Some subgroups, such as patients with Down's syndrome, Fontan circulation and 'segmental' pulmonary hypertension, present particular challenges in terms of management and therapy. The current review focuses on contemporary treatment strategies in PAH-CHD patients with particular emphasis on challenging patient groups and conditions., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Objective: To assess the relationship between elevated levels of B-type natriuretic peptide (BNP) and outcome in patients with Eisenmenger syndrome., Design: Retrospective study., Setting: Tertiary centre for adult congenital heart disease., Patients: All patients with Eisenmenger syndrome (n=181, age 36.9±12.1 years, 31% with Down syndrome) in whom BNP concentrations were measured as part of routine clinical care were included., Main Outcome Measures: The study end point was all cause mortality., Results: During a median follow-up period of 3.3 years, 20 patients (7 with Down syndrome) died. Higher BNP concentrations were predictive of all cause mortality on univariate analysis in patients with or without Down syndrome. On multivariable Cox proportional hazard analysis, BNP predicted survival independently of renal function, Down syndrome, or 6 min walk test distance (p=0.004). Temporal increases in BNP concentration were also found to predict mortality. Treatment with disease targeting therapies was associated with a significant reduction in BNP concentrations., Conclusions: BNP concentrations predict outcome in contemporary Eisenmenger patients. Increases in BNP concentrations over time are also of prognostic significance. In addition, disease targeting therapies may help to reduce BNP concentrations in this population, while treatment-naïve patients have static or rising BNP concentrations.