Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy

Danon disease: focusing on heart

“…Cheng et al 3 reported all the three male patients with concentric LV hypertrophy with maximal LV thickness of 14-34 mm, normal LV ejection fraction and LV cavity dimensions at diagnosis. However, female patients had the equal prevalence of hypertrophic and dilated cardiomyopathy.…”

“…Conduction abnormalities are very common in male patients, Cheng et al 3 reported two of three and Maron et al 14 reported five of six male patients having Wolff-Parkinson-White (WPW) syndrome with maximal LV voltage of 1.5-14.5 mV as well as T-wave inversion. Toib et al 8 reported only one of seven and Miani et al 16 reported only two of six female patients with WPW syndrome.…”

“…2 Although apparently rare, the geographic distribution of Danon disease is wide, reported from the USA, Italy, Australia, Sweden, the UK, Japan and China. [3][4][5][6][7][8][9][10][11] The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac ( Figure 1) and skeletal muscle cells. 1, 12 The final diagnosis is based on the genetic analysis of LAMP2 gene.…”

Danon Disease Due to a Novel LAMP2 Microduplication

“…Findings in the proband's mother illustrate that the later stages of illness are sufficiently destructive that characteristic findings may not be readily apparent. In light of the surprisingly high sample prevalence of 6/ 75 (8%) and 3/50 (6%) of LAMP2 mutations in two recent molecular screens of unselected hypertrophic cardiomyopathy patients (Arad et al 2005;Cheng et al 2012), a high index of suspicion for this condition is warranted, and routine screening using a combination of methods appears appropriate.…”

Anderson-Fabry Disease and Other Lysosomal Storage Disorders

“…In 1 study, the disease was present in 6% of patients with LVH who underwent myocardial biopsy. 42 In another study, 4% of children believed to have HCM had LAMP2 mutations. 43 The presence of Wolf-Parkinson-White syndrome, mental changes, and skeletal myopathy can be helpful in raising suspicion of this diagnosis.…”