https://www.um.edu.mt/library/oar/handle/123456789/27556 Sat, 11 Apr 2026 12:21:46 GMT 2026-04-11T12:21:46Z https://www.um.edu.mt/library/oar/handle/123456789/19158 Title: DiGeorge phenotype in the absence of 22q11 deletion : a case report Authors: Taliana, Nikita; Said, Edith; Grech, Victor E. Abstract: DiGeorge syndrome is polytopic developmental field defect which is usually associated with 22q11.2 microdeletion. However, this phenotype may be caused by other conditions. We report such a case and briefly review these alternative causes for this particular phenotype. Sun, 01 Jan 2017 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/19158 2017-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/19151 Title: Persistence of pulmonary arterial hypertension after relief of left sided obstructive lesions in small infants : our experience Authors: Munesh, Tomar Abstract: Background Infants with critical left sided obstructive lesions usually present with left ventricle dysfunction and pulmonary arterial hypertension (PAH). Left ventricular dysfunction and pulmonary artery pressures usually normalize after relief of obstruction.In some,PAH persists despite adequate relief of obstruction. Patients and Methods We retrospectively reviewed records of infants (less than 3 months) who underwent intervention for left sided obstruction (n=50) over four years (May 2012 –May 2016). Result We report four infants who had persistent of PAH despite relief of left sided obstruction. The causes of PAH were found to be high left ventricular end diastolic pressure(n=1), severe hypoplasia of pulmonary veins (n=1), stenosis of the lower branch of the right pulmonary artery (n=1) and nonregression of pulmonary vascular resistance (n=1). Conclusion That persistence of PAH after relief of obstruction should be investigated and other, less common causes should be sought. Sun, 01 Jan 2017 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/19151 2017-01-01T00:00:00Z