Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.
Aims The aim of this study was to provide population-based data on the healthcare provision for adults with congenital heart disease (ACHD) and the impact of cardiology care on morbidity and mortality in this vulnerable population. Methods and results Based on administrative data from one of the largest German Health Insurance Companies, all insured ACHD patients (<70 years of age) were included. Patients were stratified into those followed exclusively by primary care physicians (PCPs) and those with additional cardiology follow-up between 2014 and 2016. Associations between level of care and outcome were assessed by multivariable/propensity score Cox analyses. Overall, 24 139 patients (median age 43 years, 54.8% female) were included. Of these, only 49.7% had cardiology follow-up during the 3-year period, with 49.2% of patients only being cared for by PCPs and 1.1% having no contact with either. After comprehensive multivariable and propensity score adjustment, ACHD patients under cardiology follow-up had a significantly lower risk of death [hazard ratio (HR) 0.81, 95% confidence interval (CI) 0.67–0.98; P = 0.03) or major events (HR 0.85, 95% CI 0.78–0.92; P < 0.001) compared to those only followed by PCPs. At 3-year follow-up, the absolute risk difference for mortality was 0.9% higher in ACHD patients with moderate/severe complexity lesions cared by PCPs compared to those under cardiology follow-up. Conclusion Cardiology care compared with primary care is associated with superior survival and lower rates of major complications in ACHD. It is alarming that even in a high resource setting with well-established specialist ACHD care approximately 50% of contemporary ACHD patients are still not linked to regular cardiac care. Almost all patients had at least one contact with a PCP during the study period, suggesting that opportunities to refer patients to cardiac specialists were missed at PCP level. More efforts are required to alert PCPs and patients to appropriate ACHD care.
Background: Infective endocarditis (IE) represents a major complication in patients with congenital heart disease (CHD) and is associated with high morbidity and mortality. The aim of this study was to analyse the frequency and outcome of IE in contemporary CHD patients based on all IE hospital admissions in Germany over a 10-year period. Methods: Based on data of all hospital admissions in Germany from 2009 to 2018, we identified all CHD cases with a diagnosis of IE. The data contained information on patient demographics, diagnoses, surgical procedures, and mortality. The primary endpoint of the study was endocarditis-associated mortality as well as major adverse events (defined as death or myocardial infarction, stroke, pulmonary embolism, sepsis, renal dialysis, resuscitation, or intubation). Results: Overall, 309,245 CHD inpatient cases were included in the analysis (underlying heart defects of simple complexity 55%, moderate complexity 23%, and complex heart defects 22%, respectively). Of those, 2512 (0.8% of all inpatient cases) were treated for IE. The mortality rate of IE inpatient cases was 6% with a major adverse events rate of 46%, and 41.5% of cases required surgical intervention. The overall IE associated mortality was lower in adult CHD cases compared to the 153,242 in adult IE cases without CHD (7.1% vs. 16.1%, p < 0.001). After adjustments using multivariable logistic regression analysis, the presence or complexity of CHD was not associated with the outcomes. Meanwhile, age, male sex, and co-morbidities emerged as significant predictors of adverse outcomes. Conclusions: IE accounts for a minority of CHD related hospitalizations but remains a deadly disease, and major adverse events are common in this setting. Due to different demographic and co-morbidity spectrums, adult CHD patients tend to have better survival prospects when compared to non-CHD IE patients. Acquired co-morbidities emerged as the main predictors of adverse outcomes.
Background The life-span of patients with congenital heart disease strongly increased during the last decades due to advances in diagnostic and therapeutic approaches. Some cardiac malformations may involve an increased risk of thrombo-embolic complications. Further, adult patients with congenital heart disease (ACHD) are at increased risk to develop cardiac arrhythmia, such as atrial flutter or fibrillation. Therefore, various constellations may indicate anti-thrombotic and/ or anti-coagulative preventive or therapeutic regimen. Concomitantly, progress was made in the development of anticoagulative pharmacotherapy in the last decade with the development of the novel oral anticoagulants (NOACs). Purpose Aim of the study is to assess the use of oral anticoagulants, particularly of the NOACs dabigatran, rivaroxaban, apixaban, and edoxaban in ACHD in an unselected real-world scenario. Methods Data are derived from the German BARMER health insurance comprising approx. 9 million insurants. Within the years 2005 - 2017, we identified all adult patients that were hospitalized with a main or secondary diagnosis of a congenital heart disease by ICD-10 (Q20–28). Patients were categorized into simple, moderate, and high complexity cardiac lesions of heart disease. Oral anticoagulants were identified by ATC codes and assigned to the patient if prescribed at least twice. Results Overall, we included 13,344 ACHD patients (137,079 patient years). The use of oral anticoagulants increased from 8.3% in 2005, to 13.1% in 2010, 19.8% in 2015 and up to 22.5% of patients in 2017. Correspondingly, the use of vitamin K antagonists increased, reaching a plateau at approx. 14% since 2012. More interestingly, however, the prescription of NOACs constantly increased from 1.6% in 2012 to 8.4% in 2017. Therefore, NOACs were used for anticoagulation in 37% (n=802) of ACHD patients in 2017. Among those treated with NOACs, apixaban was used in 44.1% of patients, compared to rivaroxaban in 38.5%, edoxaban in 10.5% and dabigatran in 6.9%. With regard to heart disease complexity, oral anticoagulation was used in 21% ACHD with simple defects (1,065 of 5,080 patients), 19% of ACHD with moderate complexity disease (430 of 2,296), and 30% in complex ACHD patients (644 of 2,138). NOACs were applied to 6.2% of simple ACHD patients, 7.7% of ACHD patients with moderate complexity disease and 14.6% of complex ACHD patients. In 2017, 22.5% of ACHD (2,139) were anticoagulated. Thereof, Vit K ant. were used in 62.5%, apixaban in 16.5% and rivaroxaban in 14.4% (see figure). 2017: Use of oral anticoagulants in ACHD Conclusion Over 20% of ACHD patients require anticoagulation in the current era. Interestingly, despite the lack of prospective studies increasingly NOACs are replacing vitamin K antagonists in the ACHD population. In 2017 NOACs accounted for 37% of all anticoagulated patients in our study. The use of NOACs was not restricted to simple lesions but up to 30% of complex ACHD patients received NOACs in the current era.
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