Utfallsprediktorer vid genetisk diagnostik för hypertrofisk kardiomyopati - en retrospektiv granskning

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease, characterized by an unexplained hypertrophy of the left ventricle, which increases the risk of heart failure, arrhythmias and sudden death. In the majority of cases, an underlying pathogenic mutation can be detected, enabling presymptomatic carrier testing for family members. Patients with HCM are referred for genetic screening to the department of Clinical Genetics at Karolinska University Hospital, but according to estimates, a pathogenic mutation is detected in only a quarter of cases, partly reflecting the complexity of clinical differential diagnosis of left ventricular hypertrophy.

The aim of this study was to investigate the relationship between patient characteristics and outcome in clinical genetic diagnostics for hypertrophic cardiomyopathy, to identify the strongest predictors of a positive genetic test.

The study is a quantitative, retrospective cross-sectional study that was conducted as a quality development project, where all patients performing genetic analysis for HCM associated mutations during one year, were reviewed regarding analysis outcome and clinical characteristics.

The study showed that genetic screening was positive, i.e. a pathogenic/likely pathogenic mutation was detected in only a quarter of cases, without significant differences between men and women. However, more than twice as many men as women were referred for genetic screening. Age at diagnosis was slightly lower in the group with positive gene test, in which a positive family history, lower BMI and lower blood pressure were more common than among the other individuals. The thickness of the septum did not differ between the groups, but it also showed that BMI and blood pressure was higher in the group with negative genetic test.

Conclusion: The study showed that family history of HCM and lower BMI were the strongest predictors of positive outcome in genetic diagnostics for hypertrophic cardiomyopathy.