Bone & Soft Tissue

Abstract

and testicular atrophy with aspermatogenia (negative OCT3/OCT4 stain). There was evidence of acute multifocal bronchopneumonia and congestive heart failure. He carried two heterozygous mutations in ALMS1: 11316_11319delAGAG; R3772fs in exon 16 and 8164C>T ter; R2722X in exon 10. Conclusions: This report describes previously undefined cardiac abnormalities in this rare multisystem disorder. Myofibrillar disarray is probably directly linked to ALMS1 mutation, while fibrosis in multiple organs may be a secondary phenomenon to gene alteration. Whether and how intracellular trafficking or related signals lead to cardiac dysfunction is a subject for further research.