Dissertation Marianne Inngjerdingen Forså
On June 12, MD and ProCardio research fellow, Marianne Inngjerdingen Forså, will defend her thesis "The growing heart – from normal to pathology. Impact of exercise and genetics" for the degree of Philosophiae Doctor at the Institute of Clinical Medicine, University of Oslo (UiO). The trial lecture is titled: The use of genetic testing for the diagnosis of diseases of the heart and the aorta.
Photo: Åsne Rambøl Hillestad, UiO
Public defence: Marianne Inngjerdingen Forså - Institute of Clinical Medicine
Trial lecture
Title: The use of genetic testing for the diagnosis of diseases of the heart and the aorta
Time: 10.15
Place: Seminarrom A3 (A3.3067),Rikshospitalet (A), Sognsvannsveien 20
Dissertation
Title: The growing heart – from normal to pathology. Impact of exercise and genetics
Time: 13.15
Place: Seminarrom A3 (A3.3067),Rikshospitalet (A), Sognsvannsveien 20
Summary
Athlete’s heart is a physiological cardiac adaptation to exercise, characterized by increased wall thickness and chamber size. These changes may overlap with early signs of hypertrophic cardiomyopathy, a genetic disease associated with ventricular arrhythmias and sudden cardiac death. Distinguishing between the two conditions is crucial, yet data on paediatric athletes remain limited. Similarly, arrhythmogenic right ventricular cardiomyopathy has mainly been studied in adults, leaving paediatric patients underrepresented.
In the thesis The growing heart – from normal to pathology. Impact of exercise and genetics, Marianne Inngjerdingen Forså and co-authors investigate cardiac development in adolescent athletes and paediatric cardiomyopathy patients. The work is based on three longitudinal cohort studies.
The authors describe signs of athlete’s heart in both males and females from age 12, with increasing sex differences during adolescence. Athletes of both sexes displayed wall thickness beyond upper reference values, suggesting a potential grey zone of left ventricular hypertrophy. Compared with age- and sex-matched genotype-positive hypertrophic cardiomyopathy patients, the athletes showed symmetrical cardiac growth and relative normalization of wall thickness as body size increased. In contrast, genotype-positive hypertrophic cardiomyopathy patients showed increasingly asymmetrical wall thickness. Two cases of cardiac arrest occurred after rapid disease progression.
The thesis further examines arrhythmogenic right ventricular cardiomyopathy in children and adolescents. Previous guidelines recommended cardiac evaluation of genotype-positive children from age 10–12 years. Forså and co-authors found high disease penetrance and a malignant phenotype before age 12, with progression to heart failure in early-onset disease. Arrhythmias were more frequent in adolescence. The thesis highlights the limitations of extrapolating findings from adults to paediatric populations.