[Recommendations for the quality improvement of interdisciplinary care of adults with congenital heart anomalies].
Explore the source record for details and available documents.
Adult↗
Biomedical subjects
H Kaemmerer
Publications and source records attributed to H Kaemmerer.
PTPN11 mutations play a minor role in isolated congenital heart disease.
PTPN11 missense mutations cause approximately 50% of Noonan syndrome, an autosomal dominant disorder presenting with various congenital heart defects, most commonly valvar pulmonary stenosis, and hypertrophic cardiomyopathy. Atrioventricular septal defects and coarctation of the aorta occur in 15% and 9%, respectively. The aim of this study was to determine if PTPN11 mutations exist in non-syndromic patients with these two relevant forms of congenital heart disease. The 15 coding PTPN11 exons and their intron boundaries from subjects with atrioventricular septal defects (n = 24) and coarctation of the aorta (n = 157) were analyzed using denaturing high performance liquid chromatography and sequenced if abnormal. One subject with an atrioventricular septal defect but no other known medical problems had a c.127C > T transition in exon 2, predicting a p.L43F substitution. This mutation affected the phosphotyrosine-binding region in the N-terminal src homology 2 domain and was close to a Noonan syndrome mutation (p.T42A). An otherwise healthy patient with aortic coarctation had a silent c.540C > T change in exon 5 corresponding to p.D180D. Our study showed that PTPN11 mutations are rarely found in two isolated forms of congenital heart disease that commonly occur in Noonan syndrome. The p.L43F mutation belongs to a rare class of PTPN11 mutations altering the phosphotyrosine-binding region. These mutations are not predicted to alter the autoinhibition of the PTPN11 protein product, SHP-2, which is the mechanism for the vast majority of mutations causing Noonan syndrome. Future studies will be directed towards understanding these rare phosphotyrosine binding region mutants.
Adolescent↗
[Adult patients with congenital heart abnormalities: present and future].
The incidence of congenital heart disease is 8 to 10 per 1000 newborn. Due to the advances of heart surgery, medical treatment and interventional cardiology the primarily high mortality rate of relevant congenital heart disease has declined from 80 % to 20 %. Nowadays more than 80 % of children with relevant congenital heart disease reach adulthood. Currently approx. 150 000 adults with significant congenital heart anomalies live in Germany presently. Their number is rising continuously. With the exception of an patent Ductus Botalli and a small atrial septal defect, which could be operated in early childhood curatively, all other congenital heart defects need regular control, since even after successful primary interventional or operative treatment significant residue or sequelae have to be expected. Optimal care of these patients begins in the childhood and must be continued down to the high adulthood. Almost all of them need a careful follow-up in order to recognize residue or sequelae and to treat them in time. The complexity of many congenital heart defects makes a multidisciplinary approach necessary. A specialized, interdisciplinary cooperation between cardiologists, pediatric cardiologists, cardiac surgeons and other specialists is mandatory.
Adolescent↗
Myocardial blood flow and coronary flow reserve in children with "normal" epicardial coronary arteries after the onset of Kawasaki disease assessed by positron emission tomography.
Myocardial blood flow (MBF) was investigated in children (14.2 +/- 5.01 years) with "resolved" coronary involvement after the onset of Kawasaki disease and angiographically normal epicardial coronary arteries. Ten asymptomatic children with a history of Kawasaki disease had electrocardiography, echocardiography, and positron emission tomography (PET) 10.3 +/- 6.01 years after onset of the acute illness. Myocardial perfusion was assessed by NH(3)- PET at rest and after vasodilatation and compared with that of 10 healthy volunteers (26.1 +/- 6.3 years). No patient had signs of myocardial ischemia; on echocardiography ventricular function was normal without dyskinetic areas or signs of enlargement or stenosis of the proximal coronary arteries. There was no statistical significant difference between patients and volunteers in MBF at rest (0.86 +/- 0.27 vs 0.77 +/- 0.17 ml/g/min), whereas MBF after vasodilatation (2.42 +/- 0.81 vs 3.10 +/- 0.8 ml/g/min) and coronary flow reserve (CFR) (2.89 +/- 0.26 vs 4.09 +/- 1.01 mmHg/ml/g/min) were significantly attenuated in the Kawasaki group. No stress-induced perfusion defects could be detected. In children with a history of Kawasaki disease and angiographically normal epicardial coronary arteries, there is a significant attenuation of MBF after vasodilatation and a significant reduction of CFR. Impairment of vasoreactive ability may indicate residual damage of the coronary arteries and may be a risk factor for atherosclerosis in adulthood.
Adenosine↗
Pregnancy in congenital cardiac disease: an increasing challenge for cardiologists and obstetricians -- a prospective multicenter study.
OBJECTIVES: Aim of this study was to assess the occurrence of pregnancy-related complications of mother and child during pregnancy, delivery and puerperium in women with CCD prospectively. STUDY DESIGN, POPULATION: This prospective multicenter study included 122 pregnancies in 106 women with CCD (72 with, 34 without previous cardiac surgery). Patient age was 17-44, median 26 years. Cardiac and non-cardiac complications, mode of delivery, abortion, and CCD of the newborn were assessed. RESULTS: Initially all women were in Functional Class I or II. Worsening during pregnancy occurred in 25.5% (n=27), mainly during the second and third trimester. Significant problems due to bleeding, hypertension, rhythm disturbances, endocarditis, liver congestion, increasing cyanosis or death, occurred in 11.3%. Twelve per cent of deliveries were premature. Five women had therapeutic abortion, nine spontaneous abortions, nine preterm births, and one intrauterine death. Seventy-nine per cent (n=85) delivered spontaneously; 21.3% (n=23) had caesarean section. Of the 111 live born children, 5.4% (n=6) had a CCD. CONCLUSIONS: Most women with CCD and a good functional class before pregnancy tolerate pregnancy without major problems. However, pregnancy may induce serious cardiac and obstetric complications. The specific risks require an individualized multidisciplinary patient-management by experienced physicians.
Adolescent↗
Impaired myocardial blood flow and coronary flow reserve of the anatomical right systemic ventricle in patients with congenitally corrected transposition of the great arteries.
OBJECTIVES: To investigate myocardial blood flow of the morphological right systemic ventricle in unoperated patients with congenitally corrected transposition of the great arteries (CCTGA) by positron emission tomography (PET). DESIGN: Prospective cross sectional clinical study. SETTING: Tertiary referral centre for paediatric cardiology. PATIENTS: 15 patients with CCTGA were investigated by PET with nitrogen-13 ammonia at rest and during adenosine vasodilatation. A subgroup of seven patients had isolated CCTGA (group A, mean (SD) age 30.3 (11.9) years) and the remaining eight patients had complex CCTGA associated with subpulmonary stenosis; four of this second group also had ventricular septal defect (group B, mean (SD) age 30.6 (16.4) years). Eleven healthy adults (mean (SD) age 26.2 (5.1) years) served as the control group. RESULTS: Resting myocardial blood flow was not different between both groups of patients with CCTGA and the controls. Hyperaemic blood flows were significantly lower in both groups of CCTGA than in the control group (mean (SD) 195 (21) ml/100g/min in group A, 201 (27) ml/100g/min in group B, 309 (74) ml/100g/min in the control group; p < 0.001). Thus, coronary flow reserve was significantly lower in both groups of CCTGA than in the control group (mean (SD) 2.5 (0.28) in group A, 2.6 (0.48) in group B, and 4.0 (0.73) in the control group; p < 0.001). CONCLUSION: Blood flow measurements suggest that coronary reserve is decreased in the absence of ischaemic symptoms in patients with CCTGA. The global impairment of stress flow dynamics may indicate altered global vasoreactivity, and quantitative changes in microcirculation suggest that their role in the pathogenesis of systemic right ventricular dysfunction is important.
Adenosine↗
Mapping and ablation of atrial arrhythmias after surgical correction of congenital heart disease guided by a 64-electrode basket catheter.
Explore the source record for details and available documents.
Adolescent↗
Balloon dilation for aortic recoarctation: morphology at the site of dilation and long-term efficacy.
OBJECTIVES: We undertook this study to assess the immediate and long-term outcome of balloon angioplasty performed for recurrent or residual coarctation of the aorta, and to assess the changes in the vessel wall caused by this procedure. METHODS: Clinical, echocardiographic, angiographic and hemodynamic data from 71 patients who underwent balloon angioplasty for recoarctation between January 1987 and January 1998 were analysed retrospectively. RESULTS: Angioplasty was performed after a median of 82.6 months (range 1.4 mo-20.9 y, mean 88.5 mo) following surgery for coarctation. Mean systolic pressure gradients were reduced from 27 +/- 15 mmHg to 11 +/- 11 mmHg after angioplasty (p < 0.0001). The mean diameter at the site of recoarctation increased from 5.5 +/- 2.5 to 7.5 +/- 2.7 mm (p < 0.0001). Outpouchings of contrast agents, indicating the disruption of the inner layers of the vessel wall, were defined as extravasations. They were observed in one-quarter of the angiograms performed immediately after the intervention. Immediate success of angioplasty was achieved in 71%, and persisted in 69% of patients during long-term follow up. The main determinant for immediate success was the age at the time of the procedure (p < 0.05), while the main determinant for long-term success was the increase achieved in diameter. Extravasations did not progress to aneurysms, neither acutely nor during echocardiographic follow-up studies. For further follow-up, more sensitive imaging techniques will be necessary to delineate the morphology of the site of extravasation observed immediately after angioplasty.
Adolescent↗
[Event recorder for etiological evaluation of sporadically occurring cardiovascular complaints and symptoms].
Rarely and transient occurring arrhythmia, palpitation, dizziness, syncopes and chest pain frequently cause symptoms and complaints to patients with congenital cardiac defects. The reliable identification of their pathogenesis is often difficult. The study presented here demonstrates the impact of an event recorder for enlightening sporadically occurring complaints and symptoms. Fifty patients (age between 11 and 70 years, median 27 years) were examined with an event recorder (King of Hearts Express, Instromedix, Hillsboro, USA). The patients were referred to an outpatient clinic for congenital cardiac defects in order to clarify unexplained arrhythmia, palpitations, dizziness, or syncope. Included were patients above 10 years of age. Previous cardiac studies (including ECG, exercise-ECG, Holter-Monitoring) were non-diagnostic in all. Altogether 227 ECGs had been recorded. 95% of them were of diagnostic quality. The event recorder afforded ambulatory monitoring and the median duration of monitoring was 22.5 days. The average number of registered events was 4.5 +/- 3.8. In 24% of the patients (n = 12) diagnostic and/or therapeutical consequences resulted: electrophysiological examination (n = 5), drug treatment (n = 4) and pacemaker implantation (n = 3). The event recorder is an important and highly effective tool in diagnosing sporadical transient symptoms and complaints, especially arrhythmias.
Adolescent↗
[Contraception in patients with congenital heart defects].
The number of women with congenital cardiac disease, who mature into adulthood is increasing. Unfortunately, there are no prospective data published about the relative risk of different forms of contraception for these patients. Most women with congenital cardiac disease can safely use oral contraceptives, especially low-estrogen combination or progestin-only preparations, with the exception of those, who are at particular risk because of thromboembolic complications (especially in cyanosis, pulmonary hypertension, Eisenmenger reaction, rhythm disturbances), fluid retention (especially in reduced ventricular function and congestive heart failure), arterial hypertension (important in coarctation), infectious complications (endocarditis) or hyperlipidemia. Oral contraceptives should be avoided in patients at increased risk for thromboembolic events. Intrauterine devices are very effective, have no metabolic side effects and merely carry a small risk of endocarditis. Newer devices containing progesterone only may put the patients at a still smaller risk. Contraceptive subdermal implants (e.g. levonorgestrel) are used with good results in the United States for patients with contraindications to estrogen-containing oral contraceptives and may well become more widely accepted in patients in Germany in the coming years. Barrier methods can be used, but have a higher failure rate, which may be unacceptable in patients at risk (e.g. Eisenmenger's). Especially in Eisenmenger's, permanent sterilisation should be advised.
Adolescent↗
Intracardiac thrombus formation after the Fontan operation.
OBJECTIVES: Intracardiac thrombus formation is suspected to be a specific sequela after the Fontan operation and is difficult to determine by means of routine transthoracic echocardiography. The aim of our study was to evaluate the occurrence of intracardiac thrombi in the different types of Fontan modifications and to identify predisposing risk factors. METHODS: We evaluated 52 patients who had undergone a Fontan-type operation and were free of symptoms regarding thrombosis as determined by transesophageal echocardiography. RESULTS: In 17 (33%) patients thrombus formation could be found without clinical evidence of thromboembolic complications. Neither underlying morphologic disease nor age at operation, type of Fontan operation, sex, follow-up interval, arrhythmias, or laboratory or hemodynamic findings could be identified as predisposing risk factors. CONCLUSION: In patients having had a Fontan operation with inadequate or without anticoagulation medication, we would recommend routine transesophageal echocardiography to exclude eventual thrombi. Because of the high incidence of thrombi, we suggest oral anticoagulation therapy in all patients.
Adolescent↗
Long-term outcome in congenitally corrected transposition of the great arteries: a multi-institutional study.
OBJECTIVES: The purpose of this study was to determine long-term outcome in adults with congenitally corrected transposition of the great arteries (CCTGA), with particular emphasis on systemic ventricular dysfunction and congestive heart failure (CHF). BACKGROUND: Patients with CCTGA have the anatomical right ventricle as their systemic pumping chamber, with ventricular dysfunction and CHF being relatively common in older adults. METHODS: Retrospective analysis of records of 182 patients from 19 institutions were reviewed to determine current status and possible risk factors for systemic ventricular dysfunction and CHF. Factors considered included age, gender, associated cardiac defects, operative history, heart block, arrhythmias and tricuspid (i.e., systemic atrioventricular) regurgitation (TR). RESULTS: Both CHF and systemic ventricular dysfunction were common in groups with or without associated cardiac lesions. By age 45, 67% of patients with associated lesions had CHF, and 25% of patients without associated lesions had this complication. The rates of systemic ventricular dysfunction and CHF were higher with increasing age, the presence of significant associated cardiac lesions, history of arrhythmia, pacemaker implantation, prior surgery of any type, and particularly with tricuspid valvuloplasty or replacement. Aortic regurgitation (a previously unreported problem) was also relatively common in this patient population. CONCLUSIONS: Patients with CCTGA are increasingly subject to CHF with advancing age; this complication is extremely common by the fourth and fifth decades. Tricuspid (systemic atrioventricular) valvular regurgitation is strongly associated with RV (anatomical right ventricle connected to aorta in CCTGA patients; systemic ventricle in CCTGA) dysfunction and CHF; whether it is causative or a secondary complication remains speculative.
Adult↗
Imaging in adults with congenital cardiac disease (ACCD).
Management of patients with congenital heart disease requires detailed information on cardiac and great vessel morphology. In previous years, the diagnosis and the treatment of congenital malformations has often depended on cardiac catherization, and in many institutions, cardiac catherization still remains the gold standard against which other modalities are measured. In the past decade, however, imaging methodologies have increasingly shifted toward the use of less invasive and noninvasive techniques. Currently, echocardiography is the initial method of choice in evaluating the anatomy, especially in younger patients. Meanwhile, several newer imaging techniques like magnetic resonance imaging (MRI) and spiral or multislice computed tomography (CT) are in use. They offer extremely useful information about abnormalities of the heart and great vessels as well as the assessment of cardiac anatomy and function. Echo, angiography, MRI and CT should be seen as complimentary investigations in adult congenital heart disease.
Adult↗
[Magnetic resonance imaging and spiral computed tomography in the diagnosis and follow-up of adults with congenital heart and vessel disease].
Management of patients with congenital heart disease requires detailed information on cardiac and great vessel morphology. In previous years the diagnosis and treatment of congenital malformations often depended on cardiac catheterization and in many institutions cardiac catheterization still remains the gold standard against which other modalities are measured. In the past decade, however, imaging methodologies have increasingly shifted toward the use of less invasive and noninvasive techniques. Currently, echocardiography is the initial method of choice in evaluating the anatomy, especially in younger patients. Meanwhile, several newer imaging techniques like magnetic resonance imaging (MRI) and computed tomography (CT) are in use. They offer extremely useful information about abnormalities of the heart and great vessels as well as for the assessment of cardiac anatomy and function. Echo, angiography, MRT and CT should be seen as complementary investigations in adult congenital heart disease.
Adult↗
[Progress report of the "Clinical Pharmacology" Study Group 10 March 1998 to 10 March 1999].
Explore the source record for details and available documents.
Cardiotonic Agents↗
Arterial hypertension in adults after surgical treatment of aortic coarctation.
Despite primarily successful surgical repair of aortic coarctation (CoA), postoperative persistent, recurring, or newly developing hypertension is regarded as a risk factor of earlier mortality compared with a normal population. The present study shows that even after surgical correction of CoA many patients have hypertension at rest or during exercise. Out of 44 patients, 72% had a pathological profile at rest, 20% during exercise, and 53% during ambulatory blood pressure measurement. Regular checks on blood pressure are therefore necessary, including measurements at rest, during exercise, and under ambulatory conditions. Since these processes yield very different answers they should be combined and evaluated critically for a proper assessment of the blood pressure situation and effective treatment. Ambulatory blood pressure measurement allows the recognition of round-the-clock behavior of blood pressure and of patients with 'occult' or 'white-coat' hypertension, and furthermore it helps to control the effectiveness of the treatment. It thus makes an essential contribution to the postoperative care of patients after surgical treatment of CoA.
Adolescent↗
[Evaluation of congenital vena cava anomalies and acquired vena cava obstructions after atrial switch operation using spiral computerized tomography and 3-dimensional reconstruction].
We report spiral-CT findings in adult patients with congenital abnormalities of the vena cava and systemic venous obstructions after atrial switch operation. Especially systemic venous obstruction is a well-known complication following Mustard procedure for transposition of the great arteries. The results demonstrate that computed tomography, particularly with the use of 3-dimensional surface reconstruction, is very useful as a highly sensitive procedure for the detailed depiction of abnormalities of the vena cava or of residua and sequelae after inflow correction for complete transposition. Demonstration of such abnormalities or obstructions after atrial switch operation is important, since the recognition and quantitation of caval anomalies by clinical techniques is unreliable and indeed often impossible. Imaging procedures such as spiral computed tomography are important for this purpose. Advantages of spiral computed tomography, particularly with 3-dimensional reconstruction, are discussed.
Adolescent↗
[2D and Doppler echocardiography after atrial switch operation for transposition of great arteries; a review].
Introduction of the atrial baffle procedure (Mustard, Senning) more than 30 years ago has dramatically improved the prognosis of patients with transposition of the great arteries. However, a range of late complications can occur even in clinically asymptomatic patients including: superior and inferior limb obstruction, pulmonary venous obstruction, residual baffle-leakage, left ventricular outflow tract obstruction, tricuspid valve regurgitation, right ventricular dysfunction and postoperative dysrhythmia. As an increasing number of patients has reached adulthood an accurate noninvasive technique is needed for routine follow-up studies. In most patients transthoracic two-dimensional (2D) and Doppler echocardiography allows a complete investigation of postoperative hemodynamic abnormalities -- in particular assessment of atrial baffle function. In adult patients with restricted echo-windows transoesophageal echocardiography may provide a more detailed assessment of atrial baffle morphology and function; TEE seems to be superior compared to angiography and magnetic resonance imaging. Furthermore TEE is a reliable guiding and monitoring technique during interventional cardiac catheterization procedures such as balloon dilatation or stent implantation and allows further surveillance. Even if compared to other noninvasive diagnostic procedures, 2D and Doppler echocardiography (transthoracic/transoesophageal) are still the most important and accurate diagnostic methods for routine investigation of the postoperative anatomy and potential late complications in patients who underwent an atrial baffle procedure.
Echocardiography↗