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The Outcome of Eisenmenger Patients with Trisomy 21 Does Not Differ From Acta Cardiol 2011; 66(3): 293-301 doi: 10.2143/AC.66.3.2114128 293 The outcome of Eisenmenger patients with trisomy 21 does not diff er from patients without trisomy 21 Els TROOST1, MD; Alexander VAN DE BRUAENE1, MD; Konstantinos LAMPROPOULOS1, MD, PhD; Martijn POST1, MD; Marc GEWILLIG2, MD, PhD; Philip MOONS3, RN, PhD; Marion DELCROIX4, MD, PhD; Werner BUDTS 1, MD, PhD 1Congenital and structural cardiology, 2Paediatric cardiology and 4Pneumology, University Hospitals Leuven; 3Centre for Health Services and Nursing Research, Catholic University of Leuven, Leuven, Belgium. Objective Several patients with trisomy 21 developed the Eisenmenger syndrome (ES) because the underlying congenital heart defect was not corrected. However, little is known about their prognosis. This study aimed at (1) identifying risk factors for worse prognosis in ES patients, and (2) evalu- ating whether outcome of ES patients with trisomy 21 diff ers from ES patients without trisomy 21. Design Data on all Eisenmenger patients in follow-up at the paediatric and adult congenital heart disease clinic of the University Hospitals Leuven were collected for retrospective analysis. Regression analysis was performed where applicable and survival rate was compared between patients with and without trisomy 21. Results One hundred thirty-four patients (mean age at latest follow-up 33.2 ± 13.6 years, 41.8% male, 44.8% trisomy 21) were included in the study. Complex lesions, right heart failure, impaired renal function, lower transcutaneous saturation and lower body mass index were predictive of impaired outcome. Mean survival of the global ES group was 44.9 ± 2.2 years. However, long-term survival of trisomy 21 patients was not statistically diff erent from patients without trisomy 21 (mean survival 44.5 ± 2.6 years vs 44.5 ± 2.9 years, respectively, P = 0.80, log rank test). Conclusion Long-term survival is markedly reduced in Eisenmenger patients. Complex lesions, right heart failure, impaired renal function, lower transcutaneous saturation and lower body mass index were related to worse prognosis. However, survival of trisomy 21 patients did not diff er from patients without trisomy 21. Keywords Eisenmenger syndrome – outcome – trisomy 21 – Down – pulmonary arterial hypertension. INTRODUCTION Thanks to advances in the surgical management of congenital heart defects, evolution towards an Eisen- Our current knowledge of Eisenmenger syndrome menger physiology can be prevented in most paediatric (ES) has been founded more than 50 years ago by Paul patients. However, a substantial proportion of congeni- Wood. In his Croonian Lectures he defined Eisenmenger tal heart disease patients have already an ongoing Eisen- reaction as a new pathophysiological condition of pul- menger reaction when first diagnosed, compromising monary hypertension resulting from a reversed or bidi- the prognosis of these patients3-5. Moreover, as congeni- rectional shunt in different congenital heart defects1,2. tal heart defects are frequent in patients with trisomy 21, they might also develop the typical Eisenmenger syn- drome. For several decades treatment options for most ES Address for correspondence: patients were restricted to palliative support and heart- Werner Budts MD, PhD; Congenital and structural cardiology, lung transplantation with relatively poor long-term out- University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. 6,7 E-mail: [email protected] come . Recent reports, however, indicate that advanced therapy for pulmonary arterial hypertension is promis- Received 18 January 2011; accepted for publication 20 January 2011. ing for ES patients leading to lower mortality and mor- bidity8-11. Nowadays, also patients with trisomy 21 are 994301_ActaCardio_66-3_03_11-4698.indd4301_ActaCardio_66-3_03_11-4698.indd 293293 117/05/117/05/11 113:053:05 294 E. Troost et al. treated with advanced therapy. However, little is known latest follow-up. Most recent data on laboratory findings, about their natural history, treated or untreated. transcutaneous oxygen saturation, electrocardiogram, This study aimed at (1) identifying risk factors for and medical treatment were reviewed. worse prognosis in ES patients, and (2) evaluating Events defined as death, thrombo-embolic pulmo- whether outcome of ES patients with trisomy 21 differs nary and cerebral complications, arrhythmias and bleed- from ES patients without trisomy 21. ing complications were recorded. Bleeding complica- tions were classified as major or minor. A bleeding event was defined as major if there was a need for transfusion METHODS or an association with hypovolemic shock. Minor bleed- ings mainly referred to episodes of haemoptysis with Patient selection clinical benign course and without life-threatening com- All patients with Eisenmenger physiology in regular plications. follow-up at our department of paediatric and adult congenital cardiology were identified through review of Statistical analysis our database. The database, which includes all patients with a con- We analysed the data using SPSS® for Windows genital heart defect (N > 25,000) who were evaluated (version 16, SPSS, Chicago). Continuous variables were and/or treated in our paediatric and/or congenital car- tested for normality. Continuous data with normal dis- diology department, was started in 1988 by the depart- tribution are reported as means ± standard deviation. ment of congenital cardiac surgery, and extended in Continuous data with non-normal distribution are 1991 by the department of paediatric cardiology. The reported as medians with ranges. Proportions are data base runs on Filemaker Pro 4.1 software (FileMaker expressed as numbers and percentages. Cox regression Inc, Santa Clara, CA, US) and is updated each time a analysis was performed to identify predictors of survival patient comes into contact with paediatric or congeni- for time-fixed variables such as gender, association with tal cardio logy (outpatient visit, when seeking profes- trisomy 21 and complexity of disease. Kaplan-Meier sional advice, requiring attestation, intervention, etc.). analysis and log-ranking were performed for complex- Administrative data (age, birth date, address, general ity of the lesions and the presence or absence of triso- practitioner, last follow-up data, scheduled out-patient my 21. Characteristics of patients with or without tri- visit, etc.), cardiac interventions and non-cardiac diag- somy 21 were compared with appropriate comparative nosis are included. A quick and complete search can be statistics (independent T test, Mann-Whitney U test, done using predefined input fields. In this way, the and chi square test). For time-dependent variables, con- database is a strong tool to easily identify patient secutive uni- and multivariate binary logistic regression cohorts. For more detailed information of clinical exam- analysis were performed to identify risk factors indicat- inations and technical tests, the original patients’ records ing worse prognosis. The following variables were eval- have to be reviewed. uated: use of diuretics, creatinine level, transcutaneous Eisenmenger physiology was defined as pulmonary oxygen saturation, BMI at latest follow-up, bleeding arterial hypertension associated with a reversed or bidi- events, arrhythmia, haematocrit, iron reserve, use of rectional shunt through a large previously unrestrictive warfarin, and use of selective pulmonary vasodilators. defect between the systemic and pulmonary circulation The dependent variable was defined as all-cause mortal- at ventricular, atrial or aorta-pulmonary level, con- ity. All tests were two-sided and P < 0.05 was considered firmed by echocardiography and/or cardiac catheteriza- statistically significant. tion. Patients with progressive or severe pulmonary hypertension after shunt closure or patients with small restrictive defects with disproportionate pulmonary RESULTS hypertension were excluded. The study protocol was Patient population approved by the institutional review board (University Hospitals Leuven). Overall, 134 patients (mean age at latest follow-up 33.2 ± 13.6 years, 41.8% male, > 99% Caucasian) were included in the study. According to the Venetian Classi- Patient characteristics and follow-up data fication12, 40 patients (29.9%) had a simple defect, 8 (6.0%) Patient characteristics were obtained by reviewing all a combined lesion and 86 patients (64.1%) a complex records: age, gender, type of congenital defect according lesion. Complex lesions comprised atrioventricular sep- to the Venetian classification (simple, combined or com- tal defects (AVSDs), truncus arteriosus, transposition of plex), age at latest follow-up, physical examination at the great arteries with large VSD and univentricular 994301_ActaCardio_66-3_03_11-4698.indd4301_ActaCardio_66-3_03_11-4698.indd 294294 117/05/117/05/11 113:053:05 Trisomy 21 and Eisenmenger syndrome 295 Table 1 Demographic and clinical characteristics of the patient population All patients Percentage of total (number) (n = 134) male 56 41.8% Gender female 78 58.2% simple 40 29.9% Type of lesion combined 8 6.0% complex 86 64.1% trisomy 21 60 44.8% Chromosomal disorder normal karyotype 74 55.2% Smoking 10 7.5% Age at latest follow-up (years, mean ± SD) 33.2±13.6 BMI > 25 at latest FU 41 30.6% diuretics 42 31.3% ACE-I/ARB 9 6.7% Medical treatment aspirin 19 14.2% warfarin 13 9.7% ERA 29 21.6% sildenafi l 10 7.5% Advanced therapy epoprostenol 2 1.5% treprostinil sodium 9 6.7% iloprost 1 0.7% minor 26 19.4% Bleeding events
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