Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart)

Rees, Allan H.; Elbl, Francisco; Minhas, Kareem; Solinger, Robert

doi:10.1016/0002-9149(76)90433-1

Cited by 43 publications

(13 citation statements)

References 8 publications

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“…(Ehlers et al 1962;Hohn et al 1965;Rees et al 1976;Shapir and Roguin 1985) However, discrete or patchy abnormalities within the myocardium are rarely seen, and to our knowledge, discrete cardiac masses have never been reported in an infant with Pompe disease, either by echocardiogram or cardiac MRI.…”

Section: Discussionmentioning

confidence: 92%

Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

et al. 2011

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Glycogen storage disease type II (OMIM #232300), or Pompe disease, may present in the newborn period with moderate-to-severe biventricular hypertrophy with or without left ventricular outflow tract obstruction that typically leads to death from cardiorespiratory failure in the first year of life. Glycogen deposition tends to be uniform, and is only occasionally accompanied by patchy areas of fibrosis. Here, we present an infant identified with biventricular hypertrophy and cardiac masses by prenatal ultrasound. Postnatal molecular studies did not support the diagnosis of tuberous sclerosis in this case. Additional evaluation for infantile hypertrophic cardiomyopathy confirmed the diagnosis of Pompe disease. We discuss whether the "cardiac masses," which brought this infant to medical attention and facilitated an early diagnosis of Pompe disease, may represent an unusual manifestation of GSD type II or the coincidental occurrence of an unrelated disease process.

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Section: Discussionmentioning

confidence: 92%

Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

et al. 2011

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“…L. Wilkinson and angiography and, among those studied, varying patterns of abnormality have been recorded. Obstruction to left or right ventricular outflow caused by hypertrophy of the interventricular septum has been reported in several cases (Hohn et al, 1965;Rees et al, 1976) but is not universally present. When present, left ventricular outflow obstruction may be severe and surgical treatment has been attempted in 1 case (Ehlers et al, 1962).…”

Section: Discussionmentioning

confidence: 99%

“…At necropsy the first patient proved to have associated endocardial fibroelastosis. Hohn et al (1965), Hernandez et al (1966), and Rees et al (1976) each studied single cases in which left ventricular contractility was good. The sixth case, reported by Nihill et al (1970), had a poorly functioning left ventricle, assessed by follow up after a right ventricular angiogram.…”

Section: Discussionmentioning

confidence: 99%

Unusual angiographic appearances of the left ventricle in 2 cases of Pompe's disease (glycogenosis type II).

Dickinson¹,

Houlsby²,

Wilkinson³

1979

Heart

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“…L'atteinte cardiaque est rare. Les données échocardiographiques sont rares dans la littéra-ture [9,10]. Des cas de cardiomyopathies dilatées ont été rapportés [5].…”

Section: Forme Adulteunclassified

Atteintes cardiaques dans la glycogénose de type II

Fayssoil

Nardi

2008

La Presse Médicale

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Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart)

Cited by 43 publications

References 8 publications

Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

Unusual angiographic appearances of the left ventricle in 2 cases of Pompe's disease (glycogenosis type II).

Atteintes cardiaques dans la glycogénose de type II

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