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Cardiac Hypertrophy, Heart Failure and Cardiomyopathy
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Danon disease, a glycogen storage disorder, is a rare X-linked dominant disease due to primary deficiency of LAMP2. Excess glycogen accumulates in cardiomyocytes and skeletal muscle fibres leading to formation of vacuoles that stain positive with periodic acid Schiff (Fig. 5.47). Typically affected adolescent males present with the triad of HF, predominantly a HCM phenotype with extreme hypertrophy and LV wall thickness of up to 60 mm, skeletal myopathy and mental retardation. Wolff-Parkinson-White syndrome occurs in both men and women. Skeletal muscle or cardiac biopsy demonstrate vacuolization, immunohistochemistry shows LAMP2 protein deficiency, and sequencing of the LAMP2 gene for mutations is diagnostic. Clinical deterioration with rapidly progressive HF or sudden death before the age of 25 years is characteristic of the disease. No disease specific therapy is available.
Metabolic Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
One of the common differential diagnoses of Pompe disease is Danon disease, type-III GSD and GSD-V. Danon disease is an x-linked pattern characterized by subsarcolemmal vacuolations of glycogen droplets but with normal acid maltase enzyme and no acid phosphatase activity in the vacuoles. Labeling of lectin in the vacuoles was shown in Danon disease but not in Pompe disease.
Neuropsychological functioning following cardiac transplant in Danon disease
Published in Developmental Neurorehabilitation, 2019
David Salisbury, Katherine Meredith
The literature regarding Danon disease includes mention of cognitive changes, yet the medical complications have not received the majority of the attention. Studies indicate cognitive changes are more common in males, a finding that is not unexpected given the one to two decade earlier onset in males (~12 years old), often during formative educational years.1,2 Boucek et al. (2011)2 present one of the largest studies available involving 82 cases and noted that learning or cognitive disorders were reported by all males and nearly half of females. Mild to moderate cognitive disabilities were most typically described by males, while milder and nonspecific cognitive complaints were frequently endorsed by females. In contrast, Sugie et al. (2002)3 reported “observed mild mental retardation” in 14 of 20 male patients but the criteria for observation were not explained. Among those who underwent cognitive assessment in this study (n = 5), the intellectual quotient score (IQ = 60–91) greatly ranged from the extremely low to average ranges. A literature review by D’souza et al. (2014)1 also highlighted the prevalence of academic weakness in reading and mathematics among individuals with Danon disease leading to the recommendation of neuropsychological assessment to gather baseline cognitive data, track clinical changes, and inform interventions.
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
Published in Ophthalmic Genetics, 2019
Monika Meinert, Elisabet Englund, Carola Hedberg-Oldfors, Anders Oldfors, Björn Kornhall, Catarina Lundin, Elisabeth Wittström
Danon disease is a rare, serious cardiac and neuromuscular disorder. The exact prevalence is unknown, and the majority of physicians and most ophthalmologists are unfamiliar with the disease. Danon disease is an X-linked, dominant disorder characterized by progressive cardiomyopathy, muscle weakness, and mild intellectual disability, together with retinal, hepatic and pulmonary disorder. The disease is associated with lysosomal defects due to a mutation of the lysosome-associated membrane protein2 (LAMP2) gene (1). The accumulation of autophagic material, and often glycogen, within vacuoles in various tissues is seen in patients with primary LAMP2 protein deficiency secondary to various mutations in the LAMP2 gene, leading to systemic pathology (1,2).
Recommendations and guidance on the diagnosis and management of Danon disease
Published in Expert Opinion on Orphan Drugs, 2021
Kimberly N. Hong, Michela Brambatti, Sonya John, Quan M. Bui, Marzia Rigolli, Matthew Taylor, Eric D. Adler
Danon disease is a multisystemic disorder characterized by the classical triad of severe cardiomyopathy, skeletal myopathy and cognitive impairment, but can include retinopathy as well as gastrointestinal, hepatic and pulmonary manifestations (Table 1). Hepatic and pulmonary symptoms are often sequelae of progressive cardiac and skeletal muscle disease. Notably, while mild cognitive and muscular impairments may have been present since childhood, the cardiovascular symptoms are typically the first symptoms that trigger diagnostic work-ups. Thus, at the time of diagnosis, simultaneous reporting of all these symptoms is common [16,17].