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Medicine Jun 2017Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without...
RATIONALE
Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without facial, skeletal, or mental abnormalities.
PATIENT CONCERNS
Two brothers, who were deaf and had PDA with Eisenmenger complex, were first seen at our Cardiology clinic at the ages of 25 and 41, respectively. They presented with progressive dyspnea on exertion. Upon physical examination, both brothers had clubbing and/or cyanotic toes, normal fingers, and without facial, skeletal, ophthalmological, or mental abnormalities.
DIAGNOSES AND INTERVENTIONS
Echocardiography and multidetector computed tomography revealed large PDAs in both brothers. Cardiac catheterization showed bidirectional shunting via the PDA.
OUTCOMES AND LESSONS
Familial clustering of Eisenmenger PDA and congenital deafness is rare. Further studies are warranted to define possible genetic links.
Topics: Adult; Cyanosis; Deafness; Diagnosis, Differential; Ductus Arteriosus, Patent; Eisenmenger Complex; Humans; Siblings
PubMed: 28614229
DOI: 10.1097/MD.0000000000007105 -
Journal of the American College of... Mar 2009Eisenmenger syndrome (ES), the most advanced form of pulmonary arterial hypertension (PAH) associated with congenital heart disease, is a devastating condition that has... (Review)
Review
Eisenmenger syndrome (ES), the most advanced form of pulmonary arterial hypertension (PAH) associated with congenital heart disease, is a devastating condition that has a considerable impact on patients' lives. Patients who develop ES typically exhibit 1 or more of a range of cardiac defects, including ventricular septal defects, atrial septal defects, and patent ductus arteriosus. The nature of the congenital defect underlying ES is important because it has prognostic implications. Although ES shares similar morphological findings with idiopathic PAH, clinical differences exist between the 2 etiologies. Adults with ES exhibit increased survival and more favorable hemodynamics than those with idiopathic PAH. Treatment options for patients with ES have historically been limited; however, recent successes have been achieved with the use of therapies targeted against the pathophysiological pathways that underlie PAH. The dual endothelin receptor antagonist bosentan was demonstrated to improve hemodynamics and exercise capacity without compromising oxygen saturation, both in the short and long term. Improvements in hemodynamics also have been observed with the single endothelin receptor antagonist sitaxsentan. The phosphodiesterase type V inhibitor sildenafil may improve functional class, oxygen saturation, and hemodynamics in patients with ES, and beneficial effects of prostacyclin and prostacyclin analogs in patients with ES have been reported. The treatment of patients with PAH with the use of combinations of targeted therapies is becoming increasingly commonplace and may offer an alternative option for treatment of patients with ES. The authors of future studies may seek to investigate whether the pulmonary vascular remodeling in ES can be targeted and reversed.
Topics: Antihypertensive Agents; Bosentan; Eisenmenger Complex; Endothelin Receptor Antagonists; Epoprostenol; Humans; Hypertension, Pulmonary; Isoxazoles; Phosphodiesterase Inhibitors; Piperazines; Pulmonary Circulation; Purines; Sildenafil Citrate; Sulfonamides; Sulfones; Thiophenes
PubMed: 19245962
DOI: 10.1016/j.jacc.2008.11.025 -
Journal of Pregnancy 2021This study is aimed at evaluating the maternal and perinatal characteristics and pregnancy outcomes of ES. . This is a retrospective cohort study of pregnancy with...
OBJECTIVES
This study is aimed at evaluating the maternal and perinatal characteristics and pregnancy outcomes of ES. . This is a retrospective cohort study of pregnancy with Eisenmenger syndrome (ES) in Dr. Soetomo Hospital from January 2018 to December 2019. Total sampling size was obtained. We collected all baseline maternal-perinatal characteristic data, cardiac status, and pregnancy outcomes as primary outcomes. The maternal death cases were also evaluated, and we compared characteristics based on defect size (< or >3 cm).
RESULTS
During study periods, we collected 18 cases with ES from a total of 152 pregnancies with heart disease. The underlying heart disease type includes atrial septal defect (ASD), ventricle septal defect (VSD), and patent ductus arteriosus (PDA). All cases suffered pulmonary hypertension (PH), 3 cases moderate, and 15 cases as severe. 94% of cases fall into heart failure (DC FC NYHA III-IV) during treatment. The majority of cases are delivered by cesarean section (88.9%). Pregnancy complications found include preterm birth (78%), low birthweight (94%), intrauterine growth restriction (55%), oligohydramnios (16%), severe preeclampsia (33%), and placenta previa (5.5%). Large defect group has an older maternal ages (30.18 ± 4.60 vs. 24.15 ± 2.75; = 0.002), higher clinical sign (100 vs. 40%, = 0.003), and higher preterm delivery rate (100% vs. 69%, = 0.047) compared to small defect groups. The R to L or bidirectional shunt is significantly higher at the large defect group (13 vs. 5 cases, = 0.006, 95% confidence interval: -1.156 to -0.228). There were seven maternal death cases caused by shock cardiogenic.
CONCLUSIONS
Pregnancy with ES is still associated with very high maternal neonatal mortality and morbidity. The larger defect size is correlated with clinical performances and pregnancy outcomes. Effective preconception counseling is the best strategy to reduce the risk of maternal and neonatal death in ES women.
Topics: Cesarean Section; Eisenmenger Complex; Female; Humans; Infant Mortality; Infant, Newborn; Morbidity; Pregnancy; Pregnancy Outcome; Premature Birth; Retrospective Studies
PubMed: 34616573
DOI: 10.1155/2021/3248850 -
Texas Heart Institute Journal 2008Patients with Eisenmenger syndrome experience substantial morbidity and decreased survival rates. In advanced cases, lung transplantation with cardiac repair or... (Comparative Study)
Comparative Study
Patients with Eisenmenger syndrome experience substantial morbidity and decreased survival rates. In advanced cases, lung transplantation with cardiac repair or heart-lung transplantation is often the only option. The efficacy of endothelin receptor antagonists in Eisenmenger syndrome, which has similar pathophysiology to idiopathic pulmonary hypertension, remains unknown.We retrospectively studied adults with congenital heart disease and Eisenmenger syndrome who were treated with endothelin receptor antagonists. Analysis included chart reviews of clinical evaluations, oxygen saturation levels, functional class, 6-minute walk distances, and pulmonary artery pressures. In the 24 patients studied, Eisenmenger syndrome was caused by ventricular septal defect (6 patients), atrial septal defect (5), atrioventricular canal defect (3), complex congenital heart disease (9), and patent ductus arteriosus (1).Eisenmenger syndrome was treated with bosentan (21 patients) and sitaxsentan (3 patients). On average, therapy lasted 19 +/- 12 months. Subsequently, mean 6-minute walk distances improved from 226 +/- 159 m to 351 +/- 113 m (P = 0.004), and World Health Organization functional class improved > or =1 grade (P < 0.0001). Oxygen saturations increased on therapy from 80.5% to 87% (P < 0.0001). Pulmonary arterial systolic pressures decreased from 97 +/- 21 mmHg to 78 +/- 27 mmHg, and mean pressures from 59 +/- 16 mmHg to 47 +/- 17 mmHg (both P < 0.0001). Neither major complications from therapy nor changes in pulmonary capillary wedge pressure occurred.Endothelin receptor antagonists may play an important role in improving 6-minute walk distance, oxygen saturation, pulmonary artery pressures, and symptoms in adults who have congenital heart defects and Eisenmenger syndrome.
Topics: Administration, Oral; Adult; Antihypertensive Agents; Bosentan; Dose-Response Relationship, Drug; Drug Administration Schedule; Eisenmenger Complex; Endothelin A Receptor Antagonists; Endothelin B Receptor Antagonists; Exercise Test; Female; Heart Defects, Congenital; Humans; Isoxazoles; Male; Middle Aged; Oxygen; Retrospective Studies; Sulfonamides; Thiophenes
PubMed: 18941642
DOI: No ID Found -
Anaesthesia Jan 1984A patient with Down's syndrome and Eisenmenger's complex presented for orthopaedic surgery on the elbow under general anaesthesia. During pre-oxygenation, in order to...
A patient with Down's syndrome and Eisenmenger's complex presented for orthopaedic surgery on the elbow under general anaesthesia. During pre-oxygenation, in order to prevent a subsequent fall in systemic vascular resistance, metaraminol 1 mg was administered intravenously. The patient immediately developed bradycardia, mild hypertension and became deeply cyanosed. His condition rapidly improved after atropine 0.6 mg was given intravenously. Following induction of anaesthesia with thiopentone and tracheal intubation facilitated by suxamethonium, anaesthesia was maintained by mechanical ventilation of the lungs with nitrous oxide and oxygen (40%) with intravenous increments of fentanyl for analgesia and pancuronium for muscle relaxation; residual neuromuscular blockade was reversed with neostigmine. The patient made an eventful recovery. Although general anaesthesia is tolerated by patients with Eisenmenger's complex, powerful vasoactive drugs should not be administered unless specifically indicated.
Topics: Adolescent; Anesthesia, General; Bradycardia; Down Syndrome; Eisenmenger Complex; Humans; Humeral Fractures; Male; Metaraminol; Elbow Injuries
PubMed: 6230022
DOI: 10.1111/j.1365-2044.1984.tb09455.x -
The British Journal of Radiology Dec 2016This preliminary study aimed to evaluate whether there are changes in the apparent diffusion coefficient (ADC) values of the brain in patients presenting with...
OBJECTIVE
This preliminary study aimed to evaluate whether there are changes in the apparent diffusion coefficient (ADC) values of the brain in patients presenting with Eisenmenger syndrome (ES).
METHODS
This cross-sectional study included 10 consecutively recruited patients with ES and 10 healthy control subjects. In the patients and controls, eight distinct neuroanatomical locations were selected for analysis. Quantitative measurements of ADC values of the frontal white matter (FWM), occipital white matter, lentiform nucleus (LN), thalamus, frontal cortex, anterior and posterior limbs of the internal capsule and caudate nucleus were measured. Statistical analysis was performed using SPSS (IBM Corp., New York, NY; formerly SPSS Inc., Chicago, IL) for Windows v. 20. Data were presented as mean ± standard deviation values. The Kruskal-Wallis test was used to assess differences in the ADC values of each brain location between the ES group and the control group. Statistical significance was accepted at the level of p < 0.05.
RESULTS
The ADC values of the FWM and LN were significantly higher in the ES group than that in the control group. The mean ADC levels of other brain regions were not significantly different between the groups.
CONCLUSION
Chronic hypoxia in patients with ES may lead to diffusion changes in the brain tissue. There is a need for further studies to assess the clinical significance of cerebral ADC values in patients with ES. Advances in knowledge: The ratio of extracellular volume to intracellular volume in the FWM and LN can be considered to be increased in patients with ES.
Topics: Adolescent; Brain; Brain Mapping; Child; Child, Preschool; Cross-Sectional Studies; Diffusion Magnetic Resonance Imaging; Eisenmenger Complex; Female; Humans; Magnetic Resonance Imaging; Male; Prospective Studies
PubMed: 27767324
DOI: 10.1259/bjr.20151007 -
Journal of the American College of... Jun 2006
Review
Topics: Adult; Cardiology; Echocardiography; Eisenmenger Complex; Fetal Heart; Heart Defects, Congenital; Humans; Pediatrics; Therapies, Investigational; Ultrasonography, Prenatal
PubMed: 16750721
DOI: 10.1016/j.jacc.2006.05.010 -
Circulation Apr 2017Eisenmenger syndrome is associated with substantial morbidity and mortality. There is no consensus, however, on mortality risk stratification. We aimed to investigate...
BACKGROUND
Eisenmenger syndrome is associated with substantial morbidity and mortality. There is no consensus, however, on mortality risk stratification. We aimed to investigate survival and predictors of death in a large, contemporary cohort of Eisenmenger syndrome patients.
METHODS
In a multicenter approach, we identified adults with Eisenmenger syndrome under follow-up between 2000 and 2015. We examined survival and its association with clinical, electrocardiographic, echocardiographic, and laboratory parameters.
RESULTS
We studied 1098 patients (median age, 34.4 years; range, 16.1-84.4 years; 65.1% female; 31.9% with Down syndrome). The majority had a posttricuspid defect (n=643, 58.6%), followed by patients with a complex (n=315, 28.7%) and pretricuspid lesion (n=140, 12.7%). Over a median follow-up of 3.1 years (interquartile range, 1.4-5.9), allowing for 4361.6 patient-years observation, 278 patients died and 6 underwent transplantation. Twelve parameters emerged as significant predictors of death on univariable analysis. On multivariable Cox regression analysis, only age (hazard ratio [HR], 1.41/10 years; 95% confidence interval [CI], 1.24-1.59; <0.001), pretricuspid shunt (HR, 1.56; 95% CI, 1.02-2.39; =0.041), oxygen saturation at rest (HR, 0.53/10%; 95% CI, 0.43-0.65; <0.001), presence of sinus rhythm (HR, 0.53; 95% CI, 0.32-0.88; =0.013), and presence of pericardial effusion (HR, 2.41; 95% CI, 1.59-3.66; <0.001) remained significant predictors of death.
CONCLUSIONS
There is significant premature mortality among contemporary adults with Eisenmenger syndrome. We report, herewith, a multivariable mortality risk stratification model based on 5 simple, noninvasive predictors of death in this population.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers; Echocardiography; Eisenmenger Complex; Electrocardiography; Female; Follow-Up Studies; Humans; Male; Middle Aged; Oxygen Consumption; Phenotype; Prognosis; Proportional Hazards Models; Risk Assessment; Risk Factors; Severity of Illness Index; Walk Test; Young Adult
PubMed: 27979875
DOI: 10.1161/CIRCULATIONAHA.116.023033 -
The Canadian Journal of Cardiology Mar 2009Congenital heart disease (CHD) with systemic-topulmonary shunting is associated with pulmonary arterial hypertension (PAH). There are similar clinical and... (Review)
Review
BACKGROUND
Congenital heart disease (CHD) with systemic-topulmonary shunting is associated with pulmonary arterial hypertension (PAH). There are similar clinical and pathophysiological features between CHD with shunt-associated PAH and idiopathic PAH. Endothelin-receptor antagonists (ERAs) are oral medications that improve pulmonary hemodynamics, symptoms and functional capacity in many PAH patients. However, the role of ERAs in CHD with shunt-associated PAH is unclear.
METHODS
MEDLINE, EMBASE and the Cumulative Index of Nursing and Allied Health Literature (CINAHL) databases were searched for articles published from 1966 through September 2006, as well as bibliographies of all retrieved papers. All published English-language studies of adult CHD patients with shunt-associated PAH treated with ERAs were reviewed for clinical, functional and hemodynamic outcomes.
RESULTS
Ten studies of 174 adult CHD subjects with shunt-associated PAH were identified. Other than one placebo-controlled, randomized clinical trial, all studies were open-label, uncontrolled observational trials. Subjects were treated with the ERA bosentan for a mean (+/- SD) of 9+/-7 months. Nine studies reported improved World Health Organization (WHO) modification of the New York Heart Association functional class, with 95 of 164 subjects (58%) improving by at least one functional class. The 6 min walk distance improved in all eight studies in which it was assessed. Bosentan was generally well tolerated; 2.3% of subjects withdrew because of elevated liver enzymes. Two patients with WHO functional class IV PAH died during bosentan therapy.
CONCLUSION
Treatment of CHD patients with shunt-associated PAH with the ERA bosentan is associated with an improvement in functional class and objectively measured exercise capacity. The consistency of the uncontrolled data and the positive results of a single randomized clinical trial suggest a role for ERA therapy in CHD patients with shunt-associated PAH. Caution is suggested when considering bosentan therapy for CHD patients with WHO functional class IV PAH.
Topics: Antihypertensive Agents; Bosentan; Eisenmenger Complex; Endothelin Receptor Antagonists; Exercise Test; Heart Defects, Congenital; Hemodynamics; Humans; Hypertension, Pulmonary; Pulmonary Circulation; Sulfonamides
PubMed: 19279988
DOI: 10.1016/s0828-282x(09)70041-8 -
Methodist DeBakey Cardiovascular Journal 2020
Topics: Adult; Cor Triatriatum; Eisenmenger Complex; Female; Heart Septal Defects, Ventricular; Humans
PubMed: 32670480
DOI: 10.14797/mdcj-16-2-168