[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.

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.

Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome. Within few hours after birth, progressive and refractory heart failure developed. Postmortal molecular study revealed an unusually large deletion of exons 24-26 within the so-called neonatal region of the gene FBN1, which might explain the unfavourable course of the disease in our patient.

[Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy]. / Dimenhydrinat-Intoxikation bei einem 3(1/2) Jahre alten Mädchen mit dilatativer Kardiomyopathie.

Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy. Dimenhydrinate (Vomex(R)) is frequently used in the treatment of sickness and vomiting. The symptoms of overdosage present like an anticholinergic syndrome. We report on the clinical findings of an intoxication with dimenhydrinate in a 3(1/2) year-old-girl with functional dilative cardiomyopathy following a congenital left ventricular diverticle. Especially in small children, with the application of 40 mg suppositories once or twice per day the maximum dose of 3.75 mg/kgBW/d is achieved.

[Salmonella enteritidis infection presenting with septic shock, renal failure and cutaneous manifestations]. / Septischer Schock mit Niereninsuffizienz und Hautmanifestationen als Komplikation einer Salmonella-enteritidis-Infektion.

Infections by Salmonella enteritidis commonly present with diarrhoea, vomiting and fever and complications such as septicaemia, pleural effusion and acute renal failure are usually rare. There are only few reports of cutaneous manifestations and especially septic shock in patients with Salmonella enteritidis infection. We report on a previously healthy seven-year-old boy suffering from Salmonella enteritidis septicaemia presenting with septic shock, pleural effusion, renal failure and an unusual maculopapular skin eruption on both wrists and ankles. The boy had no underlying immunodeficiency.

The diagnostic yield from implantable loop recorders in children and young adults.

BACKGROUND: Syncope and palpitations occur frequently in young patients. Noninvasive diagnostic testing may be inconclusive. AIM: To assess the diagnostic yield of implantable loop recorders in young patients. PATIENTS AND METHODS: Thirty-three young patients underwent implantation of a loop recorder for long-term monitoring of cardiac rhythm, to establish symptom-rhythm correlation. They belonged to one of three subgroups: those with structurally normal heart, normal electrocardiogram at rest, and negative family history (n = 16); patients with structural heart disease and previous surgical repair (n = 11), and patients with proven or suspected primary electrical disease (n = 6). A combination of automatic and patient-activated recordings was used to monitor cardiac rhythm during symptomatic episodes. RESULTS: There were no procedural complications. Diagnostic electrograms could be obtained in all patients. A high degree of symptom-rhythm correlation was established. In 8/33 patients, no recurrence of symptoms was observed either until end of battery life of the device (n = 4) or until last follow-up (n = 2). Specific cardiac therapy was required, based on rhythms recorded by the device in 15 patients (until last follow-up). This consisted of catheter ablation of a tachyarrhythmia (n = 7), pacemaker implantation or upgrade (n = 5) or ICD implantation (n = 5). In the remaining patients (n = 10), recurrence of symptoms was associated with a normal electrocardiogram, and in two of these patients a non-cardiac diagnosis was made. CONCLUSIONS: In selected patients, the implantable loop recorder provides valuable diagnostic information to guide further therapy.

[Systematic evaluation of the proximal cardiac veins for echocardiographic diagnosis of total anomalous pulmonary venous connection]. / Nichtinvasive Diagnostik der totalen Lungenvenenfehleinmündung durch systematische echokardiografische Darstellung der herznahen Venen.

PURPOSE: Total anomalous pulmonary venous connection (TAPVC) is a rare congenital cardiovascular malformation that is characterized by an absent connection of the pulmonary veins to the left atrium. Echocardiographic differentiation of TAPVC and persistent pulmonary hypertension of the newborn (PPHN) can be a great diagnostic challenge. The aim of our study was the assessment of a systematic echocardiographic approach to evaluate the feasibility and reliability of noninvasive diagnosis of TAPVC. METHODS: Between January 1995 and January 2005, 15 consecutive patients with isolated TAPVC were diagnosed in our institution. 5 patients had supracardiac type, 5 cardiac type, 3 infracardiac and 2 had mixed type of TAPVC. Since 2001 preoperative diagnosis was performed exclusively by echocardiography (8/15 patients). RESULTS: TAPVC could be diagnosed correctly in all cases using a systematic echocardiographic approach with careful investigation of the proximal cardiac veins. Infracardiac type ofTAPVC was diagnosed using systematic evaluation of the liver with visualization of a pathological vessel with venous flow directed away from the heart. In all cases the echocardiographic findings were confirmed during surgery. CONCLUSION: Echocardiography with Doppler and color Doppler sonography is an effective method for noninvasive diagnosis of TAPVC. The presented systematic echocardiographic approach permits reliable noninvasive differentiation of TAPVC and PPHN.

[Echocardiographic diagnosis of the aorto-pulmonary window]. / Echokardiografische Diagnose des aortopulmonalen Fensters.

UNLABELLED: PURPOSE/MATERIALS AND METHODS: The aorto-pulmonary window is a rare congenital cardiac malformation consisting of a connection between the ascending aorta and the main pulmonary artery. Based on 5 consecutive patients who were treated in our tertiary referral centre between 7/2000 and 11/2005, we report the echocardiographic features as well the limitations of this diagnostic method in the assessment of this rare malformation. RESULTS: Dilation of the left atrium and ventricle due to the large left-to-right-shunt was the characteristic echocardiographic feature in all patients with aorto-pulmonary window. In all patients we were able to visualise the window by 2D-echocardiography. Pulsed- and continuous-wave Doppler showed diastolic negative flow in the descending aorta and in systemic arteries due to left-to-right shunting in diastole via the aorto-pulmonary window. All 5 patients had significant associated cardiovascular malformations. They were accurately diagnosed by echocardiography. Coronary anomalies could be excluded noninvasively in all patients. CONCLUSION: Echocardiography is the method of choice for diagnosis of aortopulmonary window. Detection of aortopulmonary window, however, requires a systematic and careful investigation of all cardiovascular anatomic details, since this anomaly is frequently associated with substantial additional cardiac anomalies, which would by themselves be sufficient to explain the haemodynamic abnormalities of the patient. Cardiac catheterisation is required only in cases with inadequate information about coronary artery anatomy or in older patients with pulmonary hypertension, to determine the patient's suitability for surgical correction.

[The use of implantable cardioverter-defibrillators (ICD) in children and adolescents]. / ICD-Schrittmachertherapie bei Kindern und Jugendlichen.

BACKGROUND: The compelling safety and efficacy data in numerous large, blinded trials on adult patients, and the progress in device- and leadtechnology have led to increasing use of implantable cardioverter defibrillators in pediatric patients. The purpose of our study was to assess the efficacy and safety of ICD in the pediatric age group of a tertiary referral centre. PATIENTS AND METHODS: Between March 1998 and October 2003 12 patients underwent ICD-implantation. The mean age at implantation was 14,8 years with a range between 10-17 years. The underlying cardiac disorders included long QT-syndrome in 4 patients, ventricular fibrillation in 3 patients, dilated cardiomyopathy in 4 patients, and congenital heart disease in 1 patient (pulmonary atresia with ventricular septal defect after Rastelli repair). All patients received a transvenous ICD-system (VVI-ICD in 4 patients, DDD-ICD in 8 patients). RESULTS: The mean follow up was 35 months (6-68 months). During this period there were no severe complications nor mortality. We haven't seen infections, thromboembolic complications or lead-perforations. 2 patients (17 %) received appropriate DC-shocks, 1 patient (8 %) received an inappropriate DC-shock. 10 patients (83 %) had no malignant ventricular arrhythmia under medical therapy. 2 patients (17 %) required revision because of lead-dysfunction. In 2 patients with DCM the device was explanted during orthotopic heart transplantation. CONCLUSIONS: Our data demonstrate that advances in device- and leadtechnology have resulted in a decrease of severe complications in the pediatric age group. We conclude that ICD-implantation represents a safe and effective therapy for children and adolescents with lifethreatening ventricular dysrhythmias. Since it represents an invasive therapy, indication should be confined to patients with lifethreatening dysrhythmias according to the guidelines of the American Heart Association.

[Circulatory failure due to severe cardiac arrhythmia as a result of hyperkalemia in a very low birth weight infant]. / Kreislaufinsuffizienz aufgrund schwerer Herzrhythmusstörungen infolge Hyperkaliämie bei einem extrem Frühgeborenen.

BACKGROUND: Hyperkalemia is frequently seen during the first days of life in premature infants with a gestational age at birth less than 28 weeks. Normally, these high concentrations of potassium are well tolerated of the premature infants. In a few cases hyperkalemia leads to life-threatening cardiac arrhythmias. CASE REPORT: We report about a 800 grams weighing preterm infant born after 26 + 4 gestational weeks. 24 hours after birth the infant developed 2 : 1 atrioventricular block due to hyperkalemia with a heart rate about 75 bpm. The bradycardia continued about 45 minutes in spite of immediate therapy concomitant by circulatory failure that resulted in an intraventricular hemorrhage of grade III with periventricular intraparenchymal lesions. CONCLUSIONS: The case report demonstrates the variations of the electrocardiogram that can be found in preterm infants with hyperkalemia and their potential risks. Therapy of symptomatic hyperkalemia is not able to interrupt early a life-threatening circulatory failure in any case.

Bullous pemphigoid of childhood: autoantibodies target the same epitopes within the NC16A domain of BP180 as autoantibodies in bullous pemphigoid of adulthood.

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease of the elderly that rarely occurs in children. Most adult BP serum samples react with epitopes within the NC16A domain of BP180, a glycoprotein of the cutaneous basement membrane zone. OBJECTIVES: To characterize the autoimmune response in childhood BP using recombinant forms of BP180 and to determine the subclass distribution of autoantibodies and their correlation with disease activity. OBSERVATIONS: Serum samples from 2 infants with BP, aged 4 and 5 months, reacted by immunoblot analysis with 4 epitopes clustered within the N-terminal 45 amino acids of the NC16A domain. The same 4 epitopes have previously been shown to be the target in adult BP. Childhood BP antibodies to BP180 NC16A belonged to IgG1, IgG2, IgG3, and IgG4 immunoglobulin subclasses. IgE reactivity was not detected. Serum levels of antibodies targeting BP180 NC16A paralleled disease activity as detected by enzyme-linked immunosorbent assay. CONCLUSIONS: The fine specificity of autoantibodies to BP180 is the same in BP of childhood and adulthood. Childhood BP is a true variant of BP.