Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and/or with hereditary aortic disease. This paper is the result of a collaboration between the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. Throughout the document, the importance of correct counseling in the process of genetic testing is emphasized, indications and timing for genetic studies are discussed as well as the technical modalities of genetic testing. Finally, the most important genetic diseases in adult congenital heart disease and aortic pathology are also discussed.

[The Susac syndrome--a retinocochleocerebral angiopathy]. / Das Susac-Syndrom--eine retinokochleozerebrale Angiopathie. Ein Beitrag zur Differenzialdiagnose der Multiplen Sklerose.

INTRODUCTION: There has been a series of case reports of otherwise healthy patients suffering from microangiopathy of the brain, retina and cochlea. Most patients were young women presenting clinically with a subacute encephalopathy, branch retina artery occlusions, and hearing loss. In 1994 the name "Susac syndrome" has been proposed for this disease entity. METHOD: Case report and review of 64 published cases, identified through MEDLINE are given. CASE REPORT: We describe a 32-year-old otherwise healthy woman presenting with a subacute encephalopathy, multiple branch retinal artery occlusions and bilateral hearing loss. MRI of the brain revealed multiple small white and grey matter lesions without contrast enhancement. CSF protein was elevated, oligoclonal bands were negative. Immunological laboratory parameters, microbiology, virology, coagulation studies, SEP, AEP, VEP and cerebral DSA were normal. REVIEW OF THE LITERATURE: Of 64 identified patients 58 were women. The mean age of the patients was 30 years. 60 patients (94%) had arterial occlusions, which were bilateral in 39%. 48 patients reported hearing loss, 37 patients (58%) had a global encephalopathy, but other neurologic manifestations were common. CONCLUSION: This rare syndrome has a strong young female preponderance. MRI of the brain often shows lesions suggestive of multiple sclerosis. Fluorescein angiography may show arteriolar wall hyperfluorescence. Patients can be identified at an early stage with a careful history and physical examination. Early treatment with corticosteroids is often associated with a good prognosis. Cyclophosphamide and antiplatelet drugs may be added in complicated cases.