Caso 3/2012: jovem de 16 anos com transposição das grandes artérias e estenose pulmonar em evolução natural

Abstract

Clinical data: heart murmur, cyanosis and fatigue are observed from birth, with clear worsening in recent years. Without proper medical treatment, 83% hematocrit and hemoglobin concentration of 28 g were recently found. Repeated hemapheresis decreased hematocrit to 73%. No specific medication had been administered since birth. Precordial systolic impulsions were discrete, sharp systolic thrill across the left sternal border. Apical impulse was not palpable. Heart sounds were very loud and systolic murmur was sharp throughout the left sternal border with radiation to the aortic area. The liver was not palpable and the lungs were clear. Complementary testsElectrocardiogram showed sinus rhythm and signs of sharp right ventricular overload with rsR's' morphology and negative T wave in V1; abrupt transition of the QRS complex from V1 to V2; along with right atrial overload with P wave peaked with 3 mm amplitude in D2. AP: +60 o , AQRS: +170 o , AT: +20 o (Fig. 1).Chest radiography showed cardiac area within normal limits, with rounded morphology. The middle arch is excavated and the pulmonary vasculature is slightly increased (Fig. 1). Echocardiography ( fig. 2) showed very hypertrophied cardiac chambers, especially the right ventricle. The atrioventricular valves were normal and inflow ventricular septal defect extending to the outflow measured 17 mm with bidirectional shunt. The biventricular function was preserved. The posterior pulmonary valve was thickened and had hypoplasia of the pulmonary ring. Straddling the anterior mitral valve at the top of the ventricular septum was clear. The measures were RV=22, LV=42, TV=29, MV=25, RPA=16, LPA=19 mm.Magnetic resonance imaging showed the same aspects with ventricular septal defect of 19 mm; increased atria; Vd2RV = 90 ml/m 2 and Vd2LV=112 ml/m 2 ; RVEF = 62%; LVEF = 61%. The ventricular septum measured 12 mm and the posterior wall, 7 mm. Pulmonary stenosis was severe.Cardiac catheterization was not performed given the appropriate diagnostic conclusion by other tests.