A 23-year-old man was referred to the cardiology clinic because of an abnormal ECG and a murmur. He was asymptomatic from the cardiac perspective, and there was no significant family history of cardiac disease or sudden death. He was physically active but was not an athlete and did not exercise regularly. On physical examination, he had a blood pressure of 140/70 mm Hg in both arms with a norma...

Danon, F., and Seligmann, M. (1973). Archives of Disease in Childhood, 48,207. Serum monoclonal immunoglobulins in childhood. Of 18 children with monoclonal immunoglobulins in their sera, 13 had a primary or secondary immunodeficiency. The monoclonal immunoglobulin belonged to each of the three main Ig classes, and in 3 children multiple monoclonal components were detected. The level ofthe mono...

Multicenter Experience Evaluating Transcatheter Pulmonary Valve Replacement in Bovine Jugular Vein (Contegra) Right Ventricle to Pulmonary Artery Conduits Brian H. Morray, MD; Doff B. McElhinney, MD; Younes Boudjemline, MD, PhD; Marc Gewillig, MD, PhD; Dennis W. Kim, MD, PhD; Elena K. Grant, MBChB; Martin L. Bocks, MD; Mary H. Martin, MD; Aimee K. Armstrong, MD; Darren Berman, MD; Saar Danon, M...

Ultrastructural analysis of the cardiomyocyte structure in Danon disease reveals dramatic accumulation of abnormal late autophagic vacuoles (AVd) suggestive of primary lysosomal defect. Moreover, the accumulation of AVd in cardiomyocytes is consistent with a decreased rate of autophagic to lysosomal trafficking. These results suggest that the loss of the LAMP-2 protein strongly inhibits uptake ...