PhD ceremony Mr. M.T.R. Roofthooft: Pediatric and neonatal pulmonary hypertension. Epidemiology, management, risk stratification and outcome

PhD ceremony: Mr. M.T.R. Roofthooft, 14.30 uur, Academiegebouw, Broerstraat 5, Groningen

Dissertation: Pediatric and neonatal pulmonary hypertension. Epidemiology, management, risk stratification and outcome

Promotor(s): prof. R.M.F. Berger

Faculty: Medical Sciences

The national expertise center for diagnosis and treatment of children with pulmonary hypertension (PH) is situated in the University Medical Center Groningen.

In an epidemiological study, we were able to assess the incidence and prevalence of all forms of paediatric PH. We studied the outcome of children with pulmonary arterial hypertension (PAH), treated with available targeted PAH medication. Moreover, a comparison between treatment of children and adults with PAH was performed.

The impact of persistent pulmonary hypertension of the newborn (PPHN) in children with transposition of the great arteries was studied, in addition to the general impact of PPHN on morbidity and mortality in children. The role of echocardiography and the symptom hemoptysis were examined to assess disease severity and outcome. The incidence and hemodynamic factors influencing PAH in patients with an atrial septal defect (ASD) were analysed and a search for risk factors in resolution of PAH after defect closure was performed. In the last part of the thesis, we present a new mutation in TBX4 gene, responsible for childhood-onset PAH. We report our experiences in the combination of pediatric PAH and renal trombotic microangiopathy, caused by a Cobalamin C deficiency.