Dissertation Monica Chivulescu
Cand.med. Monica Chivulescu from ProCardio defended the thesis “Prediction of outcome in genetic cardiac diseases” for the degree of PhD (Philosophiae Doctor) on October 4, 2021. The trial lecture was titled “Treatment of heart failure with preserved ejection fraction beyond established guidelines and RCTs”.
Digital Public Defence: Ana-Monica Chivulescu - Institute of Clinical Medicine (uio.no)
Adjudication committee
First opponent: Associate Professor Martina Perazzolo Marra, University of Padova
Second opponent: Associate Professor Håvard Dalen, NTNU
Third member and chair of the evaluation committee: Professor Theis Tønnessen, University of Oslo
Chair of the Defence
Associate Professor Lars Fjellbirkeland, University of Oslo
Principal Supervisor
Associate professor Kristina Haugaa, University of Oslo
Summary
Cardiac involvement is the main cause of decreased survival in patients with genetic cardiac diseases. Fatal arrhythmias at young age are a recognized cause of death in these patients. Better characterization of the outcome and identification of prognostic markers are necessary for early intervention and prevention of fatal events in these patients.
The aim of this thesis was to describe disease outcome in patients with genetic cardiac diseases associated with risk of sudden cardiac death at young age: arrhythmogenic cardiomyopathy, Brugada syndrome and inherited connective tissue disorders.
We found high disease penetrance in family members of patients with arrhythmogenic cardiomyopathy, similar structural disease progression between patients with arrhythmogenic cardiomypathy and their family members and higher arrhythmic risk in patients with structural disease progression.
There was a considerable overlap between Brugada syndrome and arrhythmogenic cardiomyopathy: 24% of patients with Brugada syndrome had electrical features and 84% had structural features of arrhythmogenic cardiomyopathy. Brugada syndrome patients with arrhythmogenic cardiomyopathy features had worse prognosis. Presence of right ventricular outflow tract dilatation along with syncope and spontaneous type I ECG improved detection of arrhythmic events in patients with Brugada syndrome.
Mitral annulus disjunction had a high prevalence in patients with inherited connective tissue disorders. Mitral annulus disjunction was associated with a more severe disease phenotype with aortic event (aortic dissection or prophylactic aortic surgery) at younger age and higher need for mitral valve surgery.
Overall, these findings indicate that a close follow-up might be necessary even in individuals previously thought to be at low risk. Presence of markers of high arrhythmic risk or severe disease phenotype should lead to closer monitoring and appropriate interventions in order to prevent fatal events.