[Medical care of adults with congenital heart diseases : Present and future]. / Medizinische Versorgung von Erwachsenen mit angeborenen Herzfehlern : Gegenwart und Zukunft.

Congenital heart diseases (CHD) are the most common types of congenital organ defects. Thanks to medical progress in congenital cardiology and heart surgery, most children with CHD reach adulthood. Despite primarily successful treatment residual and subsequent conditions as well as (non)cardiac comorbidities can influence the chronic course of the disease and lead to a higher morbidity and mortality. Adults with congenital heart disease (ACHD) in Germany are not tied to the healthcare structure despite the great need for aftercare. According to the results of the medical care of ACHD (MC-ACHD) study, ACHD centers and specialists in Germany are insufficiently perceived despite increased complication rates and the great need for specialist guidance. General practitioners and patients are not adequately informed about existing ACHD facilities. A better awareness of the ACHD problem should be created at the level of primary medical supply in order to optimize care and to reduce morbidity and mortality. Improved future-oriented patient care includes lifelong regular follow-up and the possibility of interdisciplinary, integrated medical care of CHD.

Survival and cardiovascular events after coarctation-repair in long-term follow-up (COAFU): Predictive value of clinical variables.

OBJECTIVE: Long-term sequelae and events after coarctation repair are well described. However, the predictive value of variables from clinical follow-up investigation for late events and survival has rarely been investigated. METHODS: All patients who participated in the prospective cross-sectional COALA Study in 2000 with a structural clinical investigation including blood pressure measurement and symptom-limited exercise test were contacted for reevaluation of survival, current clinical status and major cardiovascular events. RESULTS: Of 273 eligible patients, 209 were available for follow-up. Nine patients had died at a median age of 46years (range 30-64years), five of them due to cardiovascular complications. Late mortality after surgical intervention was 5.7% with a median age of 41years (range 16-64years). Twenty-five patients had a major cardiovascular event: 12 had procedures at the aortic valve or aortic arch, 8 had procedures for restenosis, 2 had endocarditis, 2 had a cerebrovascular insult and 1 an aortic dissection. The presence of bicuspid aortic valve (p=0.009), brachial-ankle blood pressure gradient >20mmHg (p<0.001) and reduced left ventricular function (p=0.002) correlated with major cardiovascular events. CONCLUSION: Surgical correction of coarctation of the aorta shows fairly low mortality in the long-term follow-up. Late morbidities include recoarctation, but also the consequences of the hemodynamics produced by a congenital bicuspid aortic valve, presence of which is predictive for aortic valve procedures: however the predictive value of clinical variables is limited.

[Risk stratification and follow-up assessment of patients with pulmonary arterial hypertension: Recommendations of the Cologne Consensus Conference 2016]. / Risikostratifizierung und Verlaufskontrollen bei PAH-Patienten: Empfehlungen der Kölner Konsensus-Konferenz 2016.

The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension are also valid for Germany. The guidelines contain detailed information about the diagnosis of pulmonary hypertension, and furthermore provide novel recommendations for risk stratification and follow-up assessments. However, the practical implementation of the European Guidelines in Germany requires the consideration of several country-specific issues and already existing novel data. This requires a detailed commentary to the guidelines, and in some aspects an update already appears necessary. In June 2016, a Consensus Conference organized by the PH working groups of the German Society of Cardiology (DGK), the German Society of Respiratory Medicine (DGP) and the German Society of Pediatric Cardiology (DGPK) was held in Cologne, Germany. This conference aimed to solve practical and controversial issues surrounding the implementation of the European Guidelines in Germany. To this end, a number of working groups was initiated, one of which was specifically dedicated to risk stratification and follow-up assessment of patients with PAH. This manuscript summarizes the results and recommendations of this working group.

[General and supportive therapy of pulmonary arterial hypertension]. / Allgemeine und supportive Therapie der pulmonal arteriellen Hypertonie: Empfehlungen der Kölner Konsensus Konferenz 2016.

The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension are also valid for Germany. The guidelines contain detailed recommendations for the targeted and supportive treatment of pulmonary arterial hypertension (PAH). However, the practical implementation of the European Guidelines in Germany requires the consideration of several country-specific issues and already existing novel data. This requires a detailed commentary to the guidelines, and in some aspects an update already appears necessary. In June 2016, a Consensus Conference organized by the PH working groups of the German Society of Cardiology (DGK), the German Society of Respiratory Medicine (DGP) and the German Society of Pediatric Cardiology (DGPK) was held in Cologne, Germany. This conference aimed to solve practical and controversial issues surrounding the implementation of the European Guidelines in Germany. To this end, a number of working groups was initiated, one of which was specifically dedicated to general and supportive therapy of PAH. This article summarizes the results and recommendations of this working group.

[Targeted therapy of pulmonary arterial hypertension: Recommendations of the Cologne Consensus Conference 2016]. / Gezielte Therapie der pulmonal arteriellen Hypertonie: Empfehlungen der Kölner Konsensuskonferenz 2016.

The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension are also valid for Germany. The guidelines contain detailed recommendations for the targeted treatment of pulmonary arterial hypertension (PAH). However, the practical implementation of the European Guidelines in Germany requires the consideration of several country-specific issues and already existing novel data. This requires a detailed commentary to the guidelines, and in some aspects an update already appears necessary. In June 2016, a Consensus Conference organized by the PH working groups of the German Society of Cardiology (DGK), the German Society of Respiratory Medicine (DGP) and the German Society of Pediatric Cardiology (DGPK) was held in Cologne, Germany. This conference aimed to solve practical and controversial issues surrounding the implementation of the European Guidelines in Germany. To this end, a number of working groups was initiated, one of which was specifically dedicated to the targeted therapy of PAH. This article summarizes the results and recommendations of the working group on targeted treatment of PAH.

[Pulmonary hypertension in grown-ups with congenital heart disease: Recommendations of the Cologne Consensus Conference 2016]. / Pulmonale Hypertonie bei Erwachsenen mit angeborenen Herzfehlern: Empfehlungen der Kölner Konsensus-Konferenz 2016.

The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension are also valid for Germany. The guidelines contain detailed recommendations for different forms of PH, and specifically address PH associated with congenital heart disease (CHD). However, the practical implementation of the European Guidelines in Germany requires the consideration of several country-specific issues and already existing novel data. This requires a detailed commentary to the guidelines, and in some aspects an update already appears necessary. In June 2016, a Consensus Conference organized by the PH working groups of the German Society of Cardiology (DGK), the German Society of Respiratory Medicine (DGP) and the German Society of Pediatric Cardiology (DGPK) was held in Cologne, Germany. This conference aimed to solve practical and controversial issues surrounding the implementation of the European Guidelines in Germany. To this end, a number of working groups was initiated, one of which was specifically dedicated to PH in grown-ups with congenital heart disease (GUCH). This article summarizes the results and recommendations of this working group.

Evaluation of contraceptive methods in women with congenital heart disease in Germany, Hungary and Japan.

AIMS: For women with congenital heart defects (CHD), pregnancy may pose a health risk. Sexually active women with CHD without the desire for own children or for whom pregnancy would imply considerable health risks require adequate counselling regarding appropriate contraception. This study gathers data on the contraceptive behaviour of women with CHD from three different cultural regions. METHODS AND RESULTS: 634 women with CHD from Germany, Hungary and Japan were surveyed regarding contraception and contraceptive methods (CM) used. The patients were divided into groups according to different criteria such as pregnancy associated cardiovascular risk or "safety" of the contraceptive methods used. 59% of the study participants had already gained experience with CM. The average age at the first time of use was 18.4 years; the German patients were significantly younger at the first time of using a CM than those from Hungary and Japan. Overall the condom was the method used the most (38%), followed by oral contraceptives (30%) and coitus interruptus (11%). The range of CM used in Japan was much smaller than that in Germany or Hungary. Unsafe contraceptives were currently, or had previously been used, by 29% of the surveyed patients (Germany: 25%, Hungary: 37%, Japan: 32%). CONCLUSION: Most women with CHD use CM. There are differences between the participating countries. Adequate contraceptive counselling of women with CHD requires considering the individual characteristics of each patient, including potential contraindications. For choosing an appropriate CM, both the methods' "safety", as well as the maternal cardiovascular risk, are important.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.

The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magnetic resonance imaging. Age was <16 years in 20, 16-25 in 27, 26-35 in 67, and >35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients <16 years with Ahn and Fattori. DE related to skeletal manifestations with all criteria, to aortic Z-scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori-grade of DE increased with age, aortic Z-scores, and skeletal score points. There was no consistent relationship of DE with any type of FBN1 mutation. DE is frequent in patients with FBN1 mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. DE relates to skeletal involvement, aortic Z-scores, and mitral valve prolapse.

[Pulmonary arterial hypertension in congenital heart defects with shunt: a heterogeneous and complex constellation]. / Pulmonalarterielle Hypertonie (PAH) bei angeborenen Herzfehlern mit Shuntverbindung: eine heterogene und komplexe Konstellation.

It will be explained how pulmonary vascular disease can develop in congenital heart defects with primary left-to-right shunt across the different ages and stages of development, with and without surgical, interventional or medical treatment. Furthermore it will be discussed, in which specific stages of pulmonary vascular disease "advanced therapy" can be used.

[Pulmonary arterial hypertension in patients with congenital heart disease: current issues and health care situation]. / Pulmonalarterielle Hypertonie bei angeborenen Herzfehlern: Problemstellung und Versorgungslage.

Defects of the heart and associated large vessels (CHD) are among the most frequent congenital anomalies. Owing to improved interdisciplinary management, about 90% of CHD patients reach adulthood. Up to 10% maintain or newly develop pulmonary arterial hypertension (PAH) over time, which impairs exercise tolerance and prognosis. Data on the health care situation of patients with PAH-CHD are limited. The ongoing Prospective Registry of Newly Initiated Therapies for Pulmonary Hypertension (COMPERA, ClinTrials.gov Identifier NCT01347216) prospectively documents adult patients with all forms of pulmonary hypertension, if treated with PAH drugs (mean follow-up 40 months). As of 16 November 2012, 8% of the 3642 patients in the database had PAH-CHD. Of the latter, 104 were documented in great detail in specific CHD report forms. These patients were on average 39 years old, men in 39%, had a mean 6-minute walk distance of 370 ± 102 meters, and were in NYHA functional class I/II in 39%, III in 59%, und IV in 3%. Mean quality of life on the 100-point visual analogue scale (EQ-5 D) was 51. PAH-CHD patients received monotherapy in 80%, combination therapy in 9%, and no PAH drugs in 11%. Only 20% were on oral anticoagulation (OAC). Mean 4-year survival in incident patients (PAH-CHD diagnosis after start of the registry in 2007) was 79%, compared with 72% in patients with idiopathic PAH (IPAH). According to these registry data, patients with PAH-CHD have impaired exercise capacity, and substantially reduced quality of life. They receive combination therapy or OAC, respectively, less frequently than IPAH patients, however, their survival rate is higher.

[Adult patients with congenital heart disease]. / Angeborene Herzfehler im Erwachsenenalter.

Unlike a few decades ago, today most patients with congenital heart disease reach adulthood after intervention or reparative surgery. As complete correction is generally not possible, a patient population with great complexity and a particular challenge to medical management is rising and a regular follow-up is mandatory. The aim of care is the timely recognition of residual or associated problems. Frequency and intensity of follow-up examinations depend on type and complexity of the lesion. The standard repertoire at follow-up consists of a specific history, clinical examination, ECG, Holter-monitoring, exercise tests, and echocardiography. Depending on the indication, cardio-MRI, CT scan, and sophisticated cardiac catheterization may become necessary. Long-term complications like rhythm disturbances, pulmonary hypertension, or heart failure are frequent, despite optimal care. Acute complications like arrhythmias, infective endocarditis, cerebral events, cerebral abscesses, aortic dissection, pulmonary embolism, and bleeding have to be recognized early and treated appropriately. Additional focus has to be placed on counseling and management of noncardiac disease and surgery, pregnancy and delivery, exercise at work and in private life, driving, and insurance issues. Training and certification of physicians as well as the establishment of specialized centers will help to ensure high quality health care for the affected patient population.

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disease and in whom mutations in all three genes had been excluded. We identified 19 individuals with dural ectasia (58%), who exhibited major skeletal manifestations of the Marfan syndrome more frequently than the remaining 14 persons without dural ectasia (p = 0.06). Moreover, only persons with dural ectasia fulfilled clinical criteria of the Marfan syndrome (p = 0.01). Conversely, aortic aneurysm (12 patients; p = 0.8), aortic dissection (five patients; p = 0.1), spontaneous dissection of the carotid arteries (five patients; p = 1), and mitral valve prolapse (13 patients; p = 0.4) were similarly frequent irrespective of dural ectasia. We conclude that dural ectasia is a marker for connective tissue disease which coincides with skeletal rather than with cardiovascular manifestations, and which may involve currently uncharacterized pathogenetic mechanisms and syndromes.

[Treatment of pulmonary arterial hypertension (PAH): recommendations of the Cologne Consensus Conference 2010]. / Therapie der pulmonal arteriellen Hypertonie (PAH): Empfehlungen der Kölner Konsensus-Konferenz 2010.

The 2009 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension have been adopted for Germany. The guidelines contain detailed recommendations for the treatment of pulmonary arterial hypertension (PAH). However, the practical implementation of the European Guidelines in Germany requires the consideration of several country-specific issues and already existing novel data. This requires a detailed commentary to the guidelines, and in some aspects an update already appears necessary. In June 2010, a Consensus Conference organized by the PH working groups of the German Society of Cardiology (DGK), the German Society of Respiratory Medicine (DGP) and the German Society of Pediatric Cardiology (DGPK) was held in Cologne, Germany. This conference aimed to solve practical and controversial issues surrounding the implementation of the European Guidelines in Germany. To this end, a number of working groups was initiated, one of which was specifically dedicated to the treatment of PAH. This commentary summarizes the results and recommendations of the working group on treatment of PAH.

[Congenital heart disease. Transition from adolescence to adulthood]. / Angeborene Herzfehler im Erwachsenenalter. Patientenbetreuung nach dem Ubergang vom Jugend- zum Erwachsenenalter.

There is a increasing clinical and scientific interest in adults with congenital heart disease. Germany is among, if not the first country worldwide, with a structured care of adults with congenital heart disease. Due to the advances in cardiology and in heart surgery, the primarily high mortality rate of relevant congenital heart disease has declined from 80% to less than 20% during the recent decades. Currently, in Europe the estimated number of adults with congenital heart disease is between 1.2 and 2.7 Mio., and the number in Germany exceeds 180,000. Almost all congenital heart defects, either native or interventionally or surgically treated, need regular control, since even after successful primary treatment significant residua or sequels have to be expected. Optimal care of these patients begins in the childhood and must be continued down to the high adulthood. The complexity of congenital heart defects makes a multidisciplinary approach necessary. A specialized, interdisciplinary cooperation between cardiologists, pediatric cardiologists, cardiac surgeons and other specialists is mandatory.

[Pulmonary hypertension and pulmonary circulation in congenital heart disease]. / Pulmonale Hypertonie und pulmonale Zirkulation bei angeborenen Herzfehlern.

Congenital cardiac malformations are often associated with pulmonary hypertension and structural changes of both, the larger and smaller vessels of the pulmonary circulation. Approximately 5 to 10 % of adults with congenital heart disease, surgically treated or untreated, develop pulmonary arterial hypertension of variable severity from mild to severe (Eisenmenger reaction). Until recently, medical treatment options for the affected patients were very limited. Meanwhile, the advent of new pulmonary vasoactive and antiproliferative substances (including endothelin receptor antagonists, phosphodiesterase-5-inhibitors, prostanoids) offer the option to correct abnormalities in pulmonary endothelial function and to improve the outcome of affected patients. Even patients with severe congenital cardiac malformations and Fontan-type circulation or patients with pulmonary atresia and aorto-pulmonary collaterals may benefit from these new treatment strategies. In any case, the complexity of congenital cardiac malformations when associated with abnormalities in the pulmonary circulation and/or pulmonary arterial hypertension, requires medical care and follow-up in specialized centers for (adult) congenital heart disease.

Sexuality and subjective wellbeing in male patients with congenital heart disease.

OBJECTIVE: To assess physical and psychological concerns related to sexuality, the prevalence of erectile dysfunction and their relationship to patients' quality of life. DESIGN: Questionnaire-based survey. SETTING: Tertiary care centre. PATIENTS: Consecutive sample of 332 men with congenital heart disease (age 18-59 years; median 23). MAIN OUTCOME MEASURES: Besides various components concerning sexuality, the International Index of Erectile Function, a generic health-related quality-of-life instrument (SF-12) and a depression scale (ADS) were included. RESULTS: Men under the age of 40 engage less frequently in sexual relationships than their peers from the general population. Fears before or during sexual intercourse (9.9%), as well as physical symptoms such as dyspnoea (9.0%), feelings of arrhythmia (9.0%) or chest pain (5.1%) are common. 10.0% reached a score on the International Index of Erectile Function indicative of an erectile dysfunction. Men with erectile dysfunction scored significantly worse on the SF-12 mental (43.5 vs 51.8, p<0.001) as well as on the physical sum scale (46.3 vs 52.6, p = 0.002) than patients without erectile problems. Additionally, in the group of men without erectile dysfunction only 3.2% showed signs of depressive symptoms, whereas among men with erectile dysfunction this figure increased to 33.3% (p<0.001) CONCLUSIONS: The concern of sexuality should be integrated into the regular consultations of these patients. The strong association between sexual health and subjective wellbeing emphasises the need for diagnosis and, if necessary, treatment of these problems.

Treatment of aortic isthmus atresia with a covered stent.

We report on successful treatment of an elderly patient with congenital aortic isthmus atresia with a covered stent.

[Anticoagulation and thrombophilia in pregnancy]. / Antikoagulation und Gerinnungsstörungen in der Schwangerschaft.

A review of coagulation disturbances during pregnancy and the current management of the anticoagulated patient with heart valve prostheses, atrial fibrillation, and thromboembolic events is presented. All patients with mechanical heart valve prostheses require life-long oral anticoagulation with coumarin or one of its derivatives. Recommendations for the treatment and prevention of thromboembolic events are discussed. The advantages and disadvantages of three different treatment approaches to anticoagulation during pregnancy are discussed and recommendations for the management in different situations are outlined with delineation of specific risks for the mother and the fetus.