{"id":30451,"date":"2026-10-15T10:54:57","date_gmt":"2026-10-15T09:54:57","guid":{"rendered":"https:\/\/apps.nhslothian.scot\/refhelp\/?page_id=30451"},"modified":"2026-10-20T14:21:58","modified_gmt":"2026-10-20T13:21:58","slug":"hereditary-cardiac-conditions","status":"publish","type":"page","link":"https:\/\/apps.nhslothian.scot\/refhelp\/hereditary-cardiac-conditions\/","title":{"rendered":"Hereditary Cardiac Conditions"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Please find below about the instances when it <em>may<\/em> be appropriate to refer patients to Clinical Genetics for assessment of a genetic component to PMH or FH of a Cardiac Condition or family history of sudden death. Referrals can be grouped into different categories as laid out below. Please read the referral criteria (Who to refer) and the exclusion criteria (Who <strong>not<\/strong> to refer) for each individual indication. Should a referral be appropriate for your patient, then please see guidance on how to refer in the <strong>Referral Guidelines<\/strong> section at the bottom of the page.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span style=\"text-decoration: underline\">1. Hypertrophic Cardiomyopathy and Idiopathic Dilated Cardiomyopathy.<\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who to refer to clinical genetics<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients who have a family member in whom a disease-causing (pathogenic or likely pathogenic) genetic variant has been found in one of the cardiomyopathy genes. <strong>Please include details of the genetic test result and the person affected if available.<\/strong><\/li>\n\n\n\n<li>Please remember that if there is any concern about cardiac symptoms in any of these patients then they must be referred to Cardiology for assessment, alongside any referral to Clinical Genetics.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who not to refer<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients who have a first degree relative (child, sibling, or parent) affected by hypertrophic or idiopathic dilated cardiomyopathy where genetic testing in the affected person has been completed but has not found a disease-causing genetic variant. <strong>These patients should be referred to cardiology for baseline cardiology assessment (Paediatric Cardiology if &lt;16 years old, Adult Cardiology for 16 years and older).<\/strong><\/li>\n\n\n\n<li>Patients where a diagnosis of hypertrophic or idiopathic dilated cardiomyopathy has been made <strong>in a second degree relative where no genetic cause has been identified in the family<\/strong>. These patients do not need to be seen in genetics unless a genetic variant is identified in the family in the future. If they have suggestive symptoms then they should be referred to cardiology for evaluation. (Paediatric Cardiology if &lt;16 years old, Adult Cardiology for 16 years and older).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span style=\"text-decoration: underline\">2. Inherited Cardiac Arrythmia<\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who to refer<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients who have a family member in whom a disease causing (pathogenic or likely pathogenic) genetic variant has been found in one of the genes responsible for\n<ul class=\"wp-block-list\">\n<li>Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC\/ AVC)<\/li>\n\n\n\n<li>Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)<\/li>\n\n\n\n<li>Long QT syndrome (LQTS)<\/li>\n\n\n\n<li>Brugada syndrome<\/li>\n\n\n\n<li>Short QT or other cardiac channelopathy<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Please include details of the genetic variant and the relative in whom it was found.<\/strong><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who not to refer<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients with a first degree relative (child sibling or parent) with a cardiac rhythm disorder where genetic testing of the affected person has not found a disease-causing genetic variant. <strong>These patients should be seen in cardiology for baseline cardiology assessment. (Paediatric Cardiology if &lt;16 years old, Adult Cardiology for 16 years and older).<\/strong><\/li>\n\n\n\n<li>Patients with a diagnosis of a cardiac rhythm disorder <strong>in a second degree relative where no genetic cause has been identified in the family.<\/strong> These patients do not need to be seen in genetics unless a genetic variant is identified in the family in the future and do not need to be referred to Cardiology unless they develop symptoms.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span style=\"text-decoration: underline\">3. Family history of sudden death<\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who to refer<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients who have a letter from the procurator fiscal advising them there may be an inherited cause for their relative\u2019s death and suggesting they are referred to their local genetics clinic. Please enclose the Fiscal\u2019s letter and postmortem report if available.<\/li>\n\n\n\n<li>Patients who have a close relative who died suddenly where a post-mortem was carried out and no cause of death was identified, or the cause of death is believed to be an inherited condition. Please include details of the deceased and the post-mortem report if available. If the patient is a first-degree blood relative of the deceased, they should also be referred to cardiology for a baseline assessment if the cause of death is unascertained or carries a risk of cardiac complications.<\/li>\n\n\n\n<li>Patients who have a relative who had a sudden death and in whom a genetic change thought to be responsible has been identified. Please include full details of the deceased relative and details of the genetic change identified.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who not to refer<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients who have a first degree relative who died from a myocardial infarction unless this was known to be caused by familial hyperlipidaemia (in which case see below).<\/li>\n\n\n\n<li>Patients who have a relative who died suddenly but who did not have a postmortem examination or about whom there is very little information to suggest a possibly inherited cause.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span style=\"text-decoration: underline\">4. Familial Hypercholesterolaemia<\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who to refer<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients (adults and children) with a family history of hyperlipidaemia where the causative genetic variant has been identified. Please refer the patient to clinical genetics <strong>with details of the genetic variant and the affected person.<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who not to refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patient who have suspected or confirmed hyperlipidaemia should be referred to the Lipid Clinic for management and initial genetic investigation if they meet the criteria <a href=\"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/hypertensionandlipidservices\/hyperlipidaemia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Lipid Clinic RefHelp<\/a>&nbsp;.<br>(Initial genetic testing of affected patients is carried out by the Lipid clinic. Affected patients in whom the causative genetic variant has been identified are then referred on to clinical genetics by the lipid clinic to arrange cascade testing of family members.) <\/li>\n\n\n\n<li>Patients who have a first degree relative who died from a myocardial infarction which was <strong>not<\/strong> known to be caused by familial hyperlipidaemia&nbsp;. If familial hyperlipidaemia is <strong><em>suspected<\/em><\/strong>&nbsp; the patient should have their lipid levels checked and be referred to the <a href=\"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/hypertensionandlipidservices\/hyperlipidaemia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Lipid clinic<\/a> if the meet their referral criteria.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>P.G, R.F, W.J &amp; J.B &#8211; 15-10-26<\/strong><\/p>\n\n\n\n<div class=\"wp-block-getwid-tabs\" data-active-tab=\"0\"><ul class=\"wp-block-getwid-tabs__nav-links\"><\/ul>\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Referral Guidelines<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<h4 class=\"wp-block-heading\">Who to Refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Please see condition specific guidance above.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who not to Refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Please see condition specific guidance above.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">How to Refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Referrals can be sent via&nbsp;<strong>SCI Gateway.&nbsp;<\/strong>The pathway is:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>WESTERN GENERAL HOSPITAL \u2013 CLINICAL GENETICS \u2013 LI BASIC SIGN REFERRAL OR LI CLINICAL GENETICS<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Details to include<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In addition to details of your patient, if available please enclose as much of the following information as possible:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>details of the genetic variant in the family<\/li>\n\n\n\n<li>name and date of birth of affected relative<\/li>\n\n\n\n<li>the area the affected relative was living when they had their genetic test<\/li>\n\n\n\n<li>how the affected relative is related to the person being referred.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">If you are referring in relation to a sudden death, please also include<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>the name, date of birth and date of death of the affected relative<\/li>\n\n\n\n<li>the area where their sudden death was investigated.<\/li>\n\n\n\n<li>A copy of the Procurator Fiscal\u2019s letter and postmortem report if available.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Contact for Queries<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">If you wish to discuss a referral, please call&nbsp;0131 537 1116&nbsp;and ask for the Duty Genetic Counsellor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Alternatively email&nbsp;<a href=\"mailto:Loth.wghclinicalgenetics@nhs.scot\" target=\"_blank\" data-type=\"mailto\" data-id=\"mailto:Loth.wghclinicalgenetics@nhs.scot\" rel=\"noreferrer noopener\">Loth.wghclinicalgenetics@nhs.scot<\/a><\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Primary Care Management<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Resources and Links<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/services.nhslothian.scot\/geneticservice\/familial-hypercholesterolaemia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Familial Hypercholesterolaemia \u2013 South East Scotland Genetic Service<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.c-r-y.org.uk\/gp\/\" target=\"_blank\" rel=\"noreferrer noopener\">General Practitioners &#8211; Cardiac Risk in the Young<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nn.nhs.scot\/niccs\/healthcare-professionals\/\" target=\"_blank\" rel=\"noreferrer noopener\">Healthcare Professionals \u2013 Network for Inherited Cardiac Conditions Scotland<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nn.nhs.scot\/niccs\/patients\/information-leaflets\/\" target=\"_blank\" rel=\"noreferrer noopener\">Information Leaflets \u2013 Network for Inherited Cardiac Conditions Scotland<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.bhf.org.uk\/informationsupport\/conditions\" target=\"_blank\" rel=\"noreferrer noopener\">Heart and circulatory conditions &#8211; BHF<\/a><\/p>\n<\/div><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Please find below about the instances when it may be appropriate to refer patients to Clinical Genetics for assessment of a genetic component to PMH or FH of a Cardiac Condition or family history of sudden death. Referrals can be grouped into different categories as laid out below. Please read the referral criteria (Who to<\/p>\n","protected":false},"author":20,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_searchwp_excluded":"","footnotes":""},"categories":[66],"class_list":["post-30451","page","type-page","status-publish","hentry","category-clinicalgenetics"],"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"rttpg_featured_image_url":null,"rttpg_author":{"display_name":"mariamazoysaavedra","author_link":"https:\/\/apps.nhslothian.scot\/refhelp\/author\/mariamazoysaavedra\/"},"rttpg_comment":0,"rttpg_category":" <a href=\"https:\/\/apps.nhslothian.scot\/refhelp\/category\/clinicalgenetics\/\" rel=\"tag\">Clinical Genetics<\/a>","rttpg_excerpt":"Please find below about the instances when it may be appropriate to refer patients to Clinical Genetics for assessment of a genetic component to PMH or FH of a Cardiac Condition or family history of sudden death. Referrals can be grouped into different categories as laid out below. Please read the referral criteria (Who to","_links":{"self":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/30451","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/users\/20"}],"replies":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/comments?post=30451"}],"version-history":[{"count":8,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/30451\/revisions"}],"predecessor-version":[{"id":30526,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/30451\/revisions\/30526"}],"wp:attachment":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/media?parent=30451"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/categories?post=30451"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}