Five Years of a Non-Physician Cardiovascular Genetics Clinic

Abstract

Aim: To review the characteristics and outcomes of patients and families seen in a non-physician dual-service cardiovascular genetics clinic. Method: Retrospective review of records from 2013-2017 inclusive. Results: 119 patients were seen from 51 families. The most common indication for referral was diagnosis of hypertrophic cardiomyopathy (23 families), followed by Long QT syndrome (14), Brugada syndrome (5), Resuscitated cardiac arrest (4), dilated cardiomyopathy (2), arrhythmogenic right ventricular cardiomyopathy (2), family history of sudden cardiac death (1), other channelopathy (1). Diagnostic genetic tests were attempted on 22 affected patients. This identified pathogenic mutations in 2 patients (both Long QT syndrome). Genetic variants were identified in 5 other patients. Predictive genetic tests for known mutations were positive in 2 of 5 relatives of Long QT syndrome patients and 4 of 11 relatives of hypertrophic cardiomyopathy patients. Clinical tests undertaken at the clinics uncovered new diagnoses of Long QT syndrome in 6 people, hypertrophic cardiomyopathy in 1, and Brugada Syndrome in 1. 3 of the 4 patients seen due to a resuscitated cardiac arrest gained a clinical diagnosis from the clinic due to diagnostic tests and family screening. Conclusion: The clinic demonstrates utility in identifying clinical causes of unascertained cardiac arrest and stratifying family members’ risk of having an inheritable heart condition. The yield of positive diagnostic genetic test results is less than commonly predicted which may relate to the complexities of the patient group.