Familial Arrhythmia and Familial Cardiomyopathy
Services for patients with suspected or proven familial arrhythmia in Scotland are coordinated through the Familial Arrhythmia Network for Scotland. This is a managed clinical network involving clinical genetics doctors, cardiologists, pathologists and others providing advice and investigations for families where an inherited disorder causing abnormal heart rhythm has been diagnosed or is suspected. This includes conditions such as Long QT syndrome, Brugada syndrome, CPVT (catecholaminergic polymorphic ventricular tachycardia), Arrhythmogenic Right Ventricular Cardiomyopathy, and sometimes Hypertrophic and Dilated Cardiomyopathy. If you are looking for advice about one of these disorders, please contact your local genetics or cardiology departments. If cardiomyopathy is part of a more general muscle disorder such as muscular dystrophy, the Muscle Network can also provide medical and genetic advice. The referral form for genetic testing of samples for a suspected familial arrhythmia gene can be found here.
Marfan Syndrome, Loeys Dietz Syndrome, and other familial aneurysm disorders
Diagnostic assessment, genetic testing and family screening for Marfan syndrome and related disorders is available through your local genetics department.
Genetic testing for familial hypercholesterolemia is available and can be accessed through your local lipid clinic or by discussion with your local genetic clinic. Medical professionals can use this form to see whether genetic testing should be considered for a patient with raised cholesterol. This form contains information for patients. The referral form for genetic testing of samples for familial cardiomyopathy can be found here.
If you are in Scotland, blood samples can be sent to your local genetics laboratory (Aberdeen, Dundee, Edinburgh or Glasgow) accompanied by the relevant form, regardless of where the test is done.
If you are outside Scotland, samples can be sent directly to the testing laboratory accompanied by the relevant form. Please contact the laboratory to discuss the testing first.