Dissertation Eystein Skjølsvik

Adjudication committee 
First opponent: Associate Professor Neal Kush Lakdawala, Brigham and Women's Hospital, USA 
Second opponent: Professor Emeritus Terje Skjærpe, St. Olavs Hospital 
Third member and chair of the evaluation committee: Professor Emeritus Ingebjørg Seljeflot, University of Oslo

Chair of the Defence 
Researcher Cathrine Rein Carlson, University of Oslo

Principal Supervisor
Associate Professor Kristina Haugaa, University of Oslo

Summary
The most common familial dilated cardiomyopathy is due to lamin A/C gene mutations. Lamin A/C cardiomyopathy is a highly penetrant, and age dependent disease with a dismal prognosis. Competitive sports may worsen the prognosis, but evidence is limited and the effect of exercise is still unknown. The progression lamin A/C disease related to age is still unclear. We hypothesized that exercise worsen lamin A/C cardiomyopathy. By cardiac imaging we studied how disease progression relates to exercise exposure and end stage heart failure. We observed that lamin A/C patients with greater exercise exposure had worse cardiac function and more atrial fibrillation than those with less. Lamin A/C disease starts at young age with electrical disease. Structural heart disease occurs from middle age. Right ventricular dysfunction and tricuspid regurgitation were associated with imminent end stage heart failure. Our findings may imply exercise restriction in lamin A/C disease. Assessment of right ventricular function and tricuspid regurgitation may be prognostic in lamin A/C disease.

Mitral valve prolapse (MVP) is common, and the prognosis is good. However in autopsy materials of sudden death in the young, MVP is disproportionally common. Mitral annulus disjunction (MAD) is a pathological atrial displacement of the mitral leaflet hinge-point. MAD may exist alone, but it's commonly associated with MVP and sudden death. We aimed to describe the clinical characteristics of MAD, explore the anatomy  and its relation to MVP and severe ventricular arrhythmia. Palpitations were the most common symptom in MAD. MAD is easily recognizable by echocardiography and exists in varying degree along the posterior mitral-leaflet. Severe ventricular arrhythmias are related to younger age, scarring in the papillary muscle and the existence of MAD without concomitant MVP. The finding of MAD by echocardiograpy may be of prognostic significance.

Dgital Public Defence: Eystein Skjølsvik - Institute of Clinical Medicine (uio.no) ​