Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot

Shimozono, Tsubasa; Ueno, Koichi; Shiokawa, Naohiro; Ohno, Seiko; Kawano, Yoshifumi

doi:10.1111/ped.14542

Cited by 2 publications

(2 citation statements)

References 5 publications

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“…[22][23][24] Of them, an infantile male patient with tetralogy of Fallot complications was diagnosed. 22…”

Section: Epidemiologymentioning

confidence: 99%

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Autophagic vacuolar myopathy: Danon disease and related myopathies

Sugie

2021

Neurology & Clinical Neurosc

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In morphological observations of normal muscle tissues, the presence of lysosomes or autophagic vacuoles is rarely noted. Hence, for a long time, the role of autophagy in muscle cells remained unclear. The importance of autophagy in muscle cells, however, started to attract attention with the identification of a subgroup of muscle diseases accompanied by many autophagic vacuoles in muscle cells. Myopathies caused by autophagy abnormality in skeletal muscles are called autophagic vacuolar myopathies. They collectively represent muscle diseases defined by conditions in which autophagic vacuoles present in muscle cells. 1 Currently, this subgroup can be categorized into three subtypes according to its pathomechanical and morphological characteristics (Table 1).The first subtype is Pompe disease, also known as glycogen storage disease type II. This is an autosomal recessive inherited disorder caused by a deficiency in acid alpha-glucosidase, a lysosomal enzyme. 2 Muscle pathology found that excessive glycogen accumulated in lysosomes and observed the formation of large autophagic vacuoles that occupy the entire cell. 3 The second subtype is a group of diseases caused by abnormalities in the structure and function of lysosomes. Since this subtype is characterized by the presence of specific autophagic vacuoles known as autophagic vacuoles with sarcolemmal features (AVSF), it is referred to as AVSF myopathies, 4 which is the focus of this article.Danon disease, a representative disease, is caused by a primary deficiency of lysosomal-associated membrane protein 2 (LAMP-2). 5,6 This subtype includes a few diseases besides Danon disease.The third subtype is a group of diseases with distinctive autophagic vacuoles called rimmed vacuoles. This subtype, rimmed vacuolar myopathy, is listed along with many diseases. 7,8 However, since all the causative genes identified in this subtype are present outside lysosomes, formation of rimmed vacuoles may be caused by an autophagy abnormality due to secondary lysosomal dysfunctions.

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“…[22][23][24] Of them, an infantile male patient with tetralogy of Fallot complications was diagnosed. 22…”

Section: Epidemiologymentioning

confidence: 99%

“…The survey also found de novo mutations in 10 families (50%). After the survey, five patients in three families (three males and two females) were added and reported in Japan 22‐24 . Of them, an infantile male patient with tetralogy of Fallot complications was diagnosed 22 …”

Section: Danon Diseasementioning

confidence: 99%

Autophagic vacuolar myopathy: Danon disease and related myopathies

Sugie

2021

Neurology & Clinical Neurosc

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History and Perspective of LAMP-2 Deficiency (Danon Disease)

Sugie,

Nishino

2024

Biomolecules

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Danon disease, an X-linked dominant vacuolar cardiomyopathy and skeletal myopathy, is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). This disease is one of the autophagy-related muscle diseases. Male patients present with the triad of cardiomyopathy, myopathy, and intellectual disability, while female patients present with cardiomyopathy. The disease’s leading cause of death is heart failure, and its prognostic factor is cardiomyopathy. Pathologically, the disease is characterized by the appearance of unique autophagic vacuoles with sarcolemmal features (AVSFs). Twenty-six families have been found to have this disease in Japan. It has been over 40 years since the first report of this disease by Danon et al. and over 20 years since the identification of the causative gene, LAMP2, by Nishino et al. Although the pathogenetic mechanism of Danon disease remains unestablished, the first clinical trials using AAV vectors have finally begun in recent years. The development of novel therapies is expected in the future.

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Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot

Cited by 2 publications

References 5 publications

Autophagic vacuolar myopathy: Danon disease and related myopathies

Autophagic vacuolar myopathy: Danon disease and related myopathies

History and Perspective of LAMP-2 Deficiency (Danon Disease)

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