Research group for cardiogenetics and sudden cardiac death

Kristina Haugaa
Group leader
Photo: Øystein Horgmo, UiO
Kristina Haugaa Group leader Photo: Øystein Horgmo, UiO

Risk assessment for Sudden Cardiac Death (SCD) and myocardial function

Sudden cardiac death (SCD) is still a challenge in cardiology. Mechanical Dispersion (MD) assessed by myocardial strain from speckle tracking echocardiography can be used to predict risk for SCD in post-MI cases and genetic myocardial diseases. Cardiac genetic diseases predispose to SCD in young individuals. Ongoing research is focusing on predicting life threatening ventricular arrhythmias and exploring cardiac function in patients at risk of SCD. 

Selected projects

Vigorous exercise in patients with hypertrophic cardiomyopathy
Dejgaard LA , Håland TF , Lie ØH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH

Cardiac adaptations to regular vigorous exercise include left ventricular hypertrophy, increased left ventricle volume and improved left ventricular diastolic function. Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, but contrary to athletes, HCM patients have smaller left ventricle volume and reduced diastolic function. How vigorous exercise impacts left ventricular morphology in HCM patients is u nknown.

In 121 patients with HCM and 66 healthy HCM mutation carriers (HCM G+P-), we explored the relationship between lifetime vigorous exercise and cardiac morphology and function and occurrence of ventricular arrhythmias (VA).

Lifetime vigorous exercise correlated with larger left ventricle volume in both HCM and HCM G+P-, but was only associated with increased left ventricular mass within physiologic limits. Vigorous exercise was associated with improved left ventricular diastolic function in HCM P+ and occurrence of VA was equal across tertiles of lifetime vigorous exercise compared to sedate HCM P+ (figure). We did not find harmful cardiac effects of exercise in HCM or HCM G+P-, and our results indicate beneficial effects of exercise, worth exploring further in larger studies. Current guidelines discouraging all competitive sports in HCM may be too restrictive.

Figure: 121 HCM patients divided according to lifetime vigorous exercise tertiles and sedate group. Range of lifetime vigorous exercise (hours) in parenthesis on X-axis. Red color in the bars indicate proportion of patients with ventricular arrhythmias. Occurrence of ventricular arrhythmias were similar across groups. Int J Cardiol. 2018 Jan 1;250:157-163


Lamin A/C cardiomyopathy: Young onset, high penetrance, and frequent need for heart transplantation
Hasselberg NE, Håland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH

Lamin A/C mutation causes dilated cardiomyopathy associated with life-threatening ventricular arrhythmias and development of severe heart failure. Sudden cardiac death can occur at a young age, but risk factors for serious events have so far been poorly defined. Furthermore, the natural course of disease in family members diagnosed by genetic screening and testing has not previously been systematically studied.

This studied was conducted to give a better overview of the prevalence and penetrance of disease as well as risk factors of serious events in lamin A/C genotype positive probands and family members.

The prevalence of Lamin A/C gene mutations was 6.2% among those referred to genetic testing with a phenotype of familial dilated cardiomyopathy in Norway from 2003 to 2015. Conduction disorder was a strong predictor of life-threatening ventricular arrhythmias, whereas reduced myocardial function by ejection fraction was the strongest predictor of death and heart transplantation (Figure). Using Oslo University’s cardiac transplant register, the study provided novel data showing that cardiac transplantation is more frequent in lamin A/C disease than in other forms of dilated cardiomyopathy and underlines the serious course of lamin A/C cardiomyopathy.

The asymptomatic lamin A/C genotype positive family members identified by genetic family screening showed a 9% annual incidence of newly documented cardiac phenotype and a 61% cardiac penetrance during follow-up.

These novel findings are of great importance for follow-up, treatment and screening for lamin A/C disease. The study highlights the importance of early family screening for lamin A/C disease by providing documentation that family members must have regular cardiological follow-up from early age to initiate treatment to avoid sudden death and progressive heart failure.

Figure: Illustration showing cardiac penetrance and outcome in 79 genotype-postitive patients with lamin A/C cardiomyopathy. AV, atrioventricular; EF, ejection fraction; VA, ventricular arrhythmia Eur Heart. 2018 Mar 7;39(10):853-860