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The European Society of Cardiology (ESC) has recently published practice guidelines for the management of grown-up congenital heart disease (GUCH).1 For the sake of space, this document did not include recommendations for the organization of care for adults with congenital heart disease (CHD) nor for training in the subspecialty of adult CHD, although emphasis was given to their importance and the need for a separate recommendations paper in the future.1 This publication is a position paper from the ESC Working Group on Grown-up Congenital Heart Disease, which makes recommendations for the standards and organization of care for adults with CHD, as well as for training in GUCH within Europe. Obviously, there is a lack of solid scientific data to support such recommendations and the majority of them must remain based on expert consensus. The remarkable improvement in survival of surgically and interventionally treated patients with CHD has led to an increasing number of GUCH patients, in particular those with more complex disease. There are also patients with newly diagnosed CHD lesions in adulthood such as atrial septal defect, coarctation of the aorta, Ebstein's anomaly and congenitally corrected transposition of the great arteries. The 32nd Bethesda Conference report in 20012 estimated that there were ∼2800 adults with CHD/million population, with more than half having moderate or highly complex disease. More recently, Marelli et al .3 reported a prevalence of 4090/million adults in Quebec for the year 2000 with 380 having severe disease. In Europe, we are currently faced with an estimated GUCH patient population of ∼2.3 million, which significantly outnumbers the paediatric CHD population of ∼1.9 million patients.4 There is general agreement that GUCH patients have very special needs and therefore physicians responsible of their care need specific expertise and training.1–11 It is …

Erwachsene Patienten/innen mit angeborenen Herzfehlern (EMAH) stellen im Gesamtspektrum der von „Erwachsenenkardiologen/innen“ zu betreuenden Patienten/innen eine kleine Gruppe dar und doch ist von einer Patientenanzahl von ca. 350.000 Personen in den D-A-CH (Deutschland-Osterreich-Schweiz)-Landern auszugehen. Die Probleme dieser PatientInnen unterscheiden sich in vielen Dingen grundlegend von jenen der sonst in der Erwachsenkardiologie zu betreuenden Patienten/innen. Eine adaquate Behandlung setzt daher besondere Kenntnisse und Erfahrungen des zustandigen Arztes voraus. Eine wesentliche Voraussetzung dafur, eine entsprechende Kompetenz aufzubauen und aufrechtzuerhalten, ist vor allem die standige Beschaftigung mit dieser Materie und die regelmasige Betreuung einer hohen Patientenzahl. Detaillierte aktuelle Behandlungsrichtlinien der D-A-CH AG fur Erwachsene Patienten mit angeborenen Herzfehlern wurden unlangst auch im J Kardiol publiziert [1], aktuelle Richtlinien der amerikanischen und europaischen Fachgesellschaften liegen vor [2, 3]. Daher konzentrieren sich diese Empfehlungen auf die Strukturen der Versorgungseinrichtungen und die erforderlichen Qualifikationen der Leiter der Versorgungseinrichtungen fur EMAH Patienten/innen in Osterreich.

A 14-year-old boy after balloon valvuloplasty of severe aortic valve stenosis in the neonatal period was referred for heart-lung transplantation because of high grade pulmonary hypertension and left heart dysfunction due to endocardial fibroelastosis with severe mitral insufficiency. After heart catheterization, hemodynamic parameters were invasively monitored: a course of levosimendan and initiation of diuretics led to a decrease of pulmonary capillary wedge pressure (from maximum 35 to 24 mmHg). Instead of an expected decrease, mean pulmonary artery pressures (mPAP) increased up to 80 mmHg with increasing transpulmonary pressure gradient (TPG) up to 55 mmHg. Oral bosentan and intravenous epoprostenol then led to a ~50% decrease of mPAP (TPG between 16 and 22 mmHg). The boy was listed solely for heart transplantation which was successfully accomplished 1 month later.

Objective Aortic complications determine the life expectancy of most patients with Marfan syndrome. To find out whether there is heterogenous aortic involvement among patients and, if there is, to characterize aortic patterns and response to long-term β-blocker therapy, we investigated aortic elastic properties before and during β-blocker treatment. Methods In 46 patients with Marfan syndrome (age, 17.4 ± 11.1 years) and 46 healthy control subjects, ascending and descending aortic elastic parameters were determined noninvasively before and after 39 ± 16 months of β-blocker treatment with atenolol. Results Aortic diameters and distensibility distinguished Marfan patients and controls with a sensitivity of 85% and a specificity of 87%. Cluster analysis revealed 4 patterns of aortic phenotypic expression: (1) reduced ascending aortic elasticity (46% of patients), (2) diminished ascending and descending aortic elasticity (17%), (3) minimal alterations of ascending and descending aortic elasticity (20%), and (4) reduced descending aortic elasticity (17%). During follow-up, aortic elastic properties improved in 21 (70%) of 30 patients and deteriorated in 9 (30%) irrespective of β-blocker dosage. Improvement was observed in 100% of patients (n = 7; age, 5.3 ± 4.2 years) with end-diastolic aortic root diameters between 20 and 30 mm and in 61% of patients (14/23; age, 20.5 ± 10.0 years) with root diameters between 30 and 52 mm. Conclusions Aortic elastic parameters distinguish between patients with Marfan syndrome and healthy controls and show the pattern of regional aortic involvement. Improvement or deterioration during follow-up can influence therapeutic decisions to prevent aortic dissection and rupture. Young age, small root diameter, and high distensibility are favorable prognostic factors.

Mutations in the human FBN1 gene are known to be associated with the Marfan syndrome, an autosomal dominant inherited multi-systemic connective tissue disorder. However, in the absence of solid genotype–phenotype correlations, the identification of an FBN1 mutation has only little prognostic value. We propose a bioinformatics framework for the mutated FBN1 gene which comprises the collection, management, and analysis of mutation data identified by molecular genetic analysis (DHPLC) and data of the clinical phenotype. To query our database at different levels of information, a relational data model, describing mutational events at the cDNA and protein levels, and the disease’s phenotypic expression from two alternative views, was implemented. For database similarity requests, a query model which uses a distance measure based on log-likelihood weights for each clinical manifestation, was introduced. A data mining strategy for discovering diagnostic markers, classification and clustering of phenotypic expressions was provided which enabled us to confirm some known and to identify some new genotype–phenotype correlations.

Takayasu arteritis (TA) is a chronic inflammatory vasculitis of the aorta and its major branches with a very low incidence in Europe and North America. Our objective was to determine the elastic properties of the affected ascending and descending aortic walls non-invasively in a 14-year-old Iraqi girl with a 3-year history of fever, fatigue, malaise and diffuse pain. Ultrasound and magnetic resonance angiography showed marked thickening of the aortic wall, dilatation of the aortic arch, and decreased luminal diameters of the abdominal aorta and both subclavian arteries, consistent with TA. Ascending and descending aortic elastic properties such as distensibility and stiffness index were markedly reduced compared to a group of healthy controls (n=39): ascending aortic distensibility was 20 kPa(-1) x 10(-3) versus 63+/-23 kPa(-1) x 10(-3) in controls, and the ascending aortic stiffness index 9.6 versus 3.5+/-1.3 in controls. Although the patient's general condition improved rapidly on oral prednisolone and azathioprine and inflammatory parameters normalised within 3 weeks, the aortic elastic parameters did not change during the first 2 weeks of anti-inflammatory treatment. Unfortunately, no further follow-up was possible.In patients with Takayasu arteritis, non-invasive quantification of reduced aortic elastic properties can help to assess aortic involvement, and possibly to follow disease activity and vascular response to therapy.

Four different types of occluder systems were used to close a persistent foramen ovale (PFO) in 162 patients with paradoxical embolic events. Ninety-eight patients had ischemic stroke, 60 transient ischemic attacks (TIA) or prolonged reversible ischemic neurological deficit (PRIND), and 4 had peripheral arterial embolism. The age of the patients was 40.2 ± 11.9 years and the ischemic event had happened 7 ± 10 months before device closure. CardioSeal and Amplatzer occluders were the most commonly used devices (73 and 77 cases, respectively). Implantations were successful in all patients. Serious catheter-related complications included two device embolizations and two venous bleedings. Six patients had documented supraventricular arrhythmias within the first month after implantation, which disappeared spontaneously within some weeks without therapy in three patients; the other three patients with atrial fibrillation needed conversion to sinus rhythm. Residual leaks were found in 5 out of 116 patients who had been followed by transesophageal echocardiography (TEE) and one leak was closed by a second device. During a follow-up period of 19.4 ± 16.2 months per patient, TIA and PRIND occurred in 3 of 116 patients. Interventional closure of PFO is a simple, effective and quick method that is superior to surgery and avoids the problems of life-long anticoagulation. (J Interven Cardiol 2001;14:223–230)

We report our experience with balloon atrial septostomy under two-dimensional echocardiographic guidance only in 44 newborn patients (39 patients with transposition of the great arteries) who needed creation of an interatrial communication. Using standard echocardiographic projections septostomy with creation of large atrial septal defects was easy in 41 newborns. In 3 patients insertion of a large Eustachian valve at the interatrial septum prevented adequate pull-throughs with larger balloon sizes. No serious complications due to the procedure were noted. Balloon atrial septostomy under two-dimensional echocardiographic control is a quick, effective and safe method which can be performed on the intensive care unit.

The use of venoarterial extracorporal membrane oxygenation and ventricular assist-devices in children with end stage heart failure is well established. The use of a bridge-to-bridge strategy leads to excellent survival rates in pediatric patients. We present an adolescent, who acquired acute respiratory failure, due to possible transfusion related lung injury, and who was successfully treated with venovenous extracorporal membrane oxygenation while on ventricular assist-device support.

Interventional occlusion of pulmonary arteriovenous malformations with large feeding arteries may be associated with an increased risk of device embolization. In a 40-year-old patient with a solitary pulmonary arteriovenous malformation one large feeding artery was successfully closed by means of an Amplatzer septal occluder and detachable coils. The use of an Amplatzer septal occluder should be considered as an alternative therapeutic option in cases of huge pulmonary arteriovenous malformation to reduce the risk of device embolization. (J Interven Cardiol 2003;16:335–339)

Objective: The aim of this study was to evaluate the effects of inhaled nitric oxide in patients with critical pulmonary perfusion after Fontan-type procedures and bidirectional Glenn anastomosis. Methods: Inhaled nitric oxide (mean 4.1 ± 0.7 ppm, 1.5 to 10 ppm) was administered in 13 patients (mean age 5.6 ± 1.6 years, 1.5 to 17 years) with critical pulmonary perfusion (central venous pressure >20 mm Hg or transpulmonary pressure gradient >10 mm Hg) in the early postoperative period after total cavopulmonary connection ( n = 9) or after bidirectional Glenn anastomosis ( n = 4). Results: In patients after total cavopulmonary connection inhaled nitric oxide therapy decreased central venous pressure by 15.3% ± 1.4% ( p = 0.0001) and transpulmonary pressure gradient by 42% ± 8% ( p = 0.0008) and increased mean systemic arterial and left atrial pressures by 12% ± 3.6% ( p = 0.011) and 28% ± 8% ( p = 0.007), respectively. Arterial and venous oxygen saturations improved by 8.2% ± 1% ( p = 0.005) and 14% ± 4.3% ( p = 0.03), respectively. In patients after bidirectional Glenn anastomosis inhaled nitric oxide therapy resulted in a decrease of central venous pressure by 22% ± 1% and of the transpulmonary pressure gradient by 55% ± 6% and improved arterial and venous oxygen saturations by 37% ± 29% and 11% ± 3%, respectively. Mean systemic arterial and left atrial pressures remained nearly unchanged. No toxic side effect was observed in Conclusion: Inhaled nitric oxide may play an important role in the management of transient critical pulmonary perfusion caused by reactive elevated pulmonary vascular resistance in the early postoperative period after Fontan-type operations and bidirectional Glenn anastomosis. (J Thorac Cardiovasc Surg 1997;113:435-42)

To investigate electrophysiological and functional signs of myocardial damage in patients with propionic acidemia (PA), an inborn error of metabolism caused by deficiency of propionyl CoA carboxylase (PCC).In an observational longitudinal study 10 patients with PA (6 boys and 4 girls) ranging between 2.5 and 20.2 (median 9.0) years of age at last follow-up were investigated over a period of up to 20 (mean 7.4) years using 12-lead electrocardiograms (ECGs), 24-hour continuous ECG recordings, bicycle exercise testings, and echocardiography with special focus on repolarization abnormalities such as corrected QT interval (QTc) prolongation, ventricular dysrhythmias, and left ventricular systolic function.QTc interval was prolonged (440 ms) in 70% of patients beyond infanthood. Continuous ECG recordings revealed rhythm disturbances in 20% of patients. M-mode echocardiographic left ventricular function was reduced (fractional shortening [FS]30%) in 40%. One patient showed signs of dilated cardiomyopathy.The majority of patients with PA (even in clinically stable situations) have disturbances in cardiac electrophysiology that can contribute to cardiac complications. Possible mechanisms include effects of toxic metabolites or deprivation of essential substrates. To avoid life-threatening complications, we recommend regular cardiological evaluations in this group of patients.