Hereditary Cardiac Conditions

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 refer) and the exclusion criteria (Who not to refer) for each individual indication. Should a referral be appropriate for your patient, then please see guidance on how to refer in the Referral Guidelines section at the bottom of the page.

1. Hypertrophic Cardiomyopathy and Idiopathic Dilated Cardiomyopathy.

Who to refer to clinical genetics

• 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. Please include details of the genetic test result and the person affected if available.
• 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.

Who not to refer

• 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. These patients should be referred to cardiology for baseline cardiology assessment (Paediatric Cardiology if <16 years old, Adult Cardiology for 16 years and older).
• Patients where a diagnosis of hypertrophic or idiopathic dilated cardiomyopathy has been made in a second degree relative where no genetic cause has been identified in the family. 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 <16 years old, Adult Cardiology for 16 years and older).

2. Inherited Cardiac Arrythmia

Who to refer

• 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
  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/ AVC)
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
  • Long QT syndrome (LQTS)
  • Brugada syndrome
  • Short QT or other cardiac channelopathy

Please include details of the genetic variant and the relative in whom it was found.

Who not to refer

• 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. These patients should be seen in cardiology for baseline cardiology assessment. (Paediatric Cardiology if <16 years old, Adult Cardiology for 16 years and older).
• Patients with a diagnosis of a cardiac rhythm disorder in a second degree relative where no genetic cause has been identified in the family. 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.

3. Family history of sudden death

Who to refer

• Patients who have a letter from the procurator fiscal advising them there may be an inherited cause for their relative’s death and suggesting they are referred to their local genetics clinic. Please enclose the Fiscal’s letter and postmortem report if available.
• 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.
• 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.

Who not to refer

• 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).
• 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.

4. Familial Hypercholesterolaemia

Who to refer

• 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 with details of the genetic variant and the affected person.

Who not to refer

• 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 Lipid Clinic RefHelp .
  (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.)
• Patients who have a first degree relative who died from a myocardial infarction which was not known to be caused by familial hyperlipidaemia . If familial hyperlipidaemia is suspected  the patient should have their lipid levels checked and be referred to the Lipid clinic if the meet their referral criteria.

P.G, R.F, W.J & J.B – 15-10-26