Danon disease: A novel Lamp-2 gene mutation in a family with four affected members

Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women

“…This "end-stage" pathology overlaps and may mask the characteristic vacuolar changes of Danon disease. These findings may be similar to HCM patients who develop a "burned-out" pathology (7,8).…”

“…In addition, the authors claim that the most significant antiarrhythmic effects of -3 PUFA are noted in studies on atrial fibrillation (AF) and quote 2 interventional studies (5,6) in addition to 1 observational study (7). To our knowledge, there has been only 1 interventional study published on the effect of -3 PUFA on AF after coronary artery bypass graft surgery.…”

The LAMP Story and What It Means for ANCA Positive Vasculitis in Nephrology

“…It was initially thought to be mainly X-linked, but as DiMauro et al recall in their review 45 , in 1993 they wrote that an "autosomal dominant inheritance cannot be ruled out". In the meantime more than 20 autosomal mutations of the LAMP-2 gene (chromosome 12) have been reported: in exon 7 resulting in the syndrome and with the patient requiring heart transplantation at 41years of age 46 , in intron 6 47 , in intron 8 48 with additional hepatopathy, in exon 5 49 and in exon 4 with several both male and female familiy members being affected 50 . Another missense mutation in the LAMP-2 gene caused a much milder clinical picture with exercise intolerance, persistent HyperCKemia and hypertrophic cardiomyopathy, but no mental retardation or severe heart failure 51 .…”

Morphologic and Clinical Aspects of Danon Disease in a Patient with a Mutation c.137G > A in the LAMP-2 Gene

“…8 It was shown that LAMP-2 deficiency in Danon disease depends on mutations in the LAMP-2 gene on chromosome Xq24, which are distributed in all nine exons of the gene 9-13 and also in 5′ untranslated region or in introns. [14][15][16] In families with genetically confirmed Danon disease morphologic analysis was limited only to skeletal muscle. 10,14 Relatively few ultrastructural studies 7,9 have focused on cardiac muscle, and little information is available on CMA in human heart in Danon disease.…”