GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands.

INTRODUCTION: Developments in DNA-diagnostic techniques allow us to identify a significant proportion of patients with gene mutations causing familial heart diseass (arrhythmia syndromes, cardiomyopathies etc.) and to identify family members in early stages of the disease and/or even before symptoms occur. Early treatment can prevent sudden cardiac death and disease progression. However, data on long-term outcome in unselected genotyped patients are scarce due to a lack of large registries. In 2005, a national internet-based registry for familial heart diseases in the Netherlands, named GENCOR, was developed in collaboration with the Interuniversity Cardiology Institute of the Netherlands (ICIN). OBJECTIVES: GENCOR aims to assess the prevalence of familial heart diseases in patients and families in the Netherlands and to facilitate research to improve the quality of diagnostics and therapy in familial heart diseases. METHODS: Patients who visit the (cardio)genetic outpatient clinic are informed about GENCOR and asked to consent to the storage of information about cardiac examinations, family history and DNA diagnostics from all their visits. Patient data are entered into the internet-based GENCOR database by the cardiologist or clinical geneticist in attendance. Additional information can be stored for scientific research. RESULTS: Four university hospitals are actively obtaining informed consent from the patients, which resulted in the inclusion of more than 300 patients. In 2006, more university hospitals will start using GENCOR and the aim is that all university hospitals will participate. Three research projects have already started using GENCOR. CONCLUSION: GENCOR is already a success, regarding the number of included patients and the related research projects set up within a limited period of time. GENCOR provides easy internet-based access for authorised cardiologists, clinical geneticists and scientists throughout the country.

Cyanoacrylate skin surface stripping: an improved approach for distinguishing dysplastic nevi from malignant melanomas.

We present a novel approach for improving the management of patients with pigmented neoplasms including malignant melanomas and dysplastic nevi. A cohort of 215 dysplastic nevi and malignant melanomas was studied by cyanoacrylate skin surface stripping (CSSS) and conventional histology. Presence of atypical melanocytes was found in the stratum corneum in more than 95% of malignant melanomas and was always absent in dysplastic nevi. We conclude that this non-invasive technique is rapid, easy to perform, and inexpensive. Its specificity and sensitivity are high enough to be considered by clinicians as an aid for distinguishing dysplastic nevi from malignant melanomas. We recommend this ancillary technique as a screening procedure though not as a substitute for conservative excisional biopsy, when doubt persists in the diagnosis of atypical pigmented neoplasms.