Cardiac Involvement in Neurofibromatosis

In adults who have neurofibromatosis (Von Recklinghausen's disease), cardiac involvement is rare. Pericardial and atrial involvement, as well as right ventricular outflow tract obstruction, have been reported.

We present the echocardiographic images of a 29-year-old man who had neurofibromatosis and clinical signs of biventricular failure. Electrocardiography had shown atrial fibrillation, poor R wave progression in precordial leads, and T wave inversion in the inferior leads and precordial leads V_4–6.

Transthoracic echocardiography demonstrated concentric left ventricular hypertrophy (Fig. 1A) and abnormal septal motion; overall systolic function was preserved. Both atria were dilated (Figs. 1B, 2A, 2B), and the atrial septum was markedly thickened (7 cm in diameter). Both atria appeared to be encased in an echodense structure (Figs. 1C and 1D). Open biopsy of the mediastinal mass revealed benign neurofibroma (plexiform type).

Fig. 1 AS = atrial septum; LA = left atrium; LV = left ventricle; RA = right atrium; RV = right ventricle; RVOT = right ventricular outflow tract

Fig. 2 AS = atrial septum; RA = right atrium; RVOT = right ventricular outflow tract

The patient's records indicated that an attempt had been made to resect the mediastinal mass 15 years earlier. At that time, the tumor had encircled the innominate vein, passed through the pericardium, and extended into the atria, particularly the interatrial septum. Only partial resection of the extracardiac portion of the tumor had been possible.