Discussion
Alagille syndrome was first described by Daniel Alagille in 1969.The incidence of Alagille syndrome has been reported as 1:30000 live births (1). Various mutations in JAG1 and NOTCH2 genes have been observed in this syndrome(2-3). These genes encode transmembrane ligands and receptors involved in the Notch signaling pathway. Intracellular proteins formed after proteolytic events in the Notch signaling pathway control gene transcription in the cell nucleus(4). The diagnosis of Alagille syndrome can be made clinically or by demonstrating JAG1 and NOTCH2 gene mutations.
The most common cardiovascular abnormalities seen in Alagille syndrome are stenosis or hypoplasia of the pulmonary artery branches. Another frequently observed condition is tetralogy of Fallot. Apart from these pathologies, various anomalies such as atrial and ventricular septal defect, bicuspid aorta and valvular aortic stenosis may also be seen (5) and observation of cardiac involvement in patients with Alagille syndrome significantly increases mortality (6). Although there is no study conducted for the relationship between Alagille syndrome and pulmonary hypertension; the presence of pulmonary hypertension in these population is described in several case reports. According to literature it is seen that pulmonary hypertension generally develops in the setting of pulmonary stenosis in patients with Alagille syndrome (7-8). However, recent studies have shown that pulmonary hypertension may develop as a result of disorders in the Notch gene pathway (9-11). Presence of NOTCH mutation seen in our patient may have contributed to the development of group 1 pulmonary hypertension without cardiac anomaly.
Infective endocarditis diagnosis is made by the modified Duke criteria (12). The main topics of treatment can be summarized as antibiotic therapy and surgical treatment in people with appropriate indications. Particularly,indications for surgery in people with a diagnosis of infective endocarditis can be classified into three main groups ; development of heart failure, prevention of uncontrollable infections and embolisms. Emergent valve surgery is recommended with a class 1 indication in cases of acute severe mitral or aortic regurgitation and associated refractory pulmonary edema/cardiogenic shock in infective endocarditis cases. Cardiac surgery is urgently recommended for patients with severe aortic and mitral valve regurgitation and in the presence of signs of heart failure or echocardiographic findings showing poor hemodynamic tolerance (13).