Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

Lee, Donghwan; Qiu, Wenjuan; Lee, Jeongho; Chien, Yin‐Hsiu; Hwu, Wuh‐Liang

doi:10.1007/8904_2014_339

Cited by 32 publications

(28 citation statements)

References 18 publications

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“…Cardiac tissue staining of subject 15 years of age showed glycogen deposition as shown with PAS staining along with hypertrophy in the presence of LAMP2 mutation. Another interesting study by Lee et al [7] observed and validated the connection put forth in this view point that there is a strong correlation between glycogen storage disease, the Pompe's disease associated with glycogen accumulation and cardiovascular complications like cardiomegaly with features of hypertrophic cardiomyopathy in different subjects between ages 1 year-4 years old. These studies validate the claim that the metabolic abnormalities we perceive in WPW syndrome could result not only because of PRKAG2/AMPK mutation but also other proteins like LAMP2, Phosphorylase kinase and acid glucosidase that could result in similar phenotype with a PRKAG2 mediated WPW phenotype with glycogen accumulation and cardiac hypertrophy (Figure 1).…”

Section: Viewpointsupporting

confidence: 57%

Overlapping Metabolic and Endocrine Dysfunction during Wolff Parkinson White Syndrome: A Cause or Consequence?

Puthanveetil¹

2017

Adv Tech Biol Med

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Section: Viewpointsupporting

confidence: 57%

Overlapping Metabolic and Endocrine Dysfunction during Wolff Parkinson White Syndrome: A Cause or Consequence?

Puthanveetil¹

2017

Adv Tech Biol Med

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“…(48) There is recent evidence that the development of HCM is not limited to the classic infantile-onset disease and that Pompe disease represents a continuum. (49) An interesting recent report also showed the use of ERT for storage caused by a PRKAG2 mutation. (50)…”

Section: Toward Novel Disease-specific Therapeuticsmentioning

confidence: 99%

Genetics of paediatric cardiomyopathies

Ware

2017

Current Opinion in Pediatrics

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Purpose of review Pediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the pediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy. Recent findings With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified. Recent progress in identifying the scope of genetic variation in large population datasets has led to reassessment and refinement of our understanding of the significance of rare genetic variation. As a result, the stringency of variant interpretation has increased, at times leading to revision of previous mutation results. Transcriptome and epigenome studies are elucidating important pathways for disease progression and highlight similarities and differences from adult cardiomyopathy. Therapy targeted toward the underlying cause of cardiomyopathy is emerging for a number of rare syndromes such as Pompe and Noonan syndromes, and genome editing and induced pluripotent stem cells provide promise for additional precision medicine approaches. Summary Genetics is moving at a rapid pace in pediatric cardiomyopathy. Genetic testing is increasingly being incorporated into clinical care. While challenges in interpretation of rare genetic variation remains challenging, the opportunity to provide management and therapy targeted toward the underlying genetic cause is beginning to be realized.

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“…Even in patients without apparent respiratory failure, a subclinical involvement of respiratory muscles has been demonstrated [4]. Minor cardiac conduction abnormalities have also been described [5,6]. Nevertheless, the possible contribution of the impaired cardiorespiratory system to defective exercise performance of these patients has not been studied.…”

Section: Introductionmentioning

confidence: 95%

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Crescimanno

Modica

Mauro

et al. 2015

Neuromuscular Disorders

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Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

Abstract: Pompe disease is a genetic disorder caused by a deficiency of acid a-glucosidase

Cited by 32 publications

References 18 publications

Overlapping Metabolic and Endocrine Dysfunction during Wolff Parkinson White Syndrome: A Cause or Consequence?

Overlapping Metabolic and Endocrine Dysfunction during Wolff Parkinson White Syndrome: A Cause or Consequence?

Genetics of paediatric cardiomyopathies

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

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