Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

Romano, S.; Bajolle, Fanny; Valayannopoulos, Vassili; Lyonnet, Stanislas; Colomb, V.; Barace, Claire de; Vouhé, Pascal; Pouard, Philippe; Vuillaumier‐Barrot, Sandrine; Dupré, Thierry; Keyzer, Yves de; Dahi, Sidi; Seta, Nathalie; Bonnet, D; Lonlay, Pascale de

doi:10.1136/jmg.2008.057620

Cited by 23 publications

(17 citation statements)

References 14 publications

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“…Hypertrophic obstructive cardiomyopathy in the prenatal and postnatal period was also reported38 as well as malformative cardiomyopathies such as conotruncal heart defects 10. Numerous proteins implicated in the neural crest migration and more generally in prenatal development are glycosylated.…”

Section: Discussionmentioning

confidence: 99%

“…Importantly, well-preserved neurodevelopment or normal IQ should not rule out PMM2-CDG 9. This diagnosis has also to be considered in children with symptoms such as failure to thrive, pericarditis4 or conotruncal heart defects10 or in patients with laboratory abnormalities including elevated serum transaminases, abnormal clotting factors, hypoglycaemia and hypothyroidism. Finally, PMM2-CDG has been described in children with mild clinical findings and any kind of unexplained multisystem disorder, and a few reported cases were even asymptomatic 11.…”

Section: Introductionmentioning

confidence: 99%

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

et al. 2017

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

et al. 2017

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“…Among those abnormalities, cardiac involvements vary greatly in CDG-1a. CHD [ 6 ], pericardial or cardiac effusions [ 7 ], cardiomyopathies (both hypertrophic and dilated cardiomyopathies) [ 8 ], and transient myocardial ischemia [ 9 ] have been reported in CDG-1a. CHDs have been rarely reported in CDG-1a and all reported cases are cardiac arteriovenous defects [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

“…CHD [ 6 ], pericardial or cardiac effusions [ 7 ], cardiomyopathies (both hypertrophic and dilated cardiomyopathies) [ 8 ], and transient myocardial ischemia [ 9 ] have been reported in CDG-1a. CHDs have been rarely reported in CDG-1a and all reported cases are cardiac arteriovenous defects [ 6 ]. According to previously studies, the cause of CHD in CDG-1a may be attributed to abnormal neural crest migration and differentiation caused by lack of glycosylated proteins in the embryonic period and this view has been well confirmed in in vitro and animal experiments [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Tang

et al. 2018

J Med Case Reports

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BackgroundAtrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect. Herein we report for the first time on a baby with congenital disorder of glycosylation type 1a with atrial septal defect and make a comparison of changes in atrial septal defect by follow-ups to the age of 3.Case presentationOur patient was an 8-month-old Han Chinese boy. At the initial visit, he presented with recurrent lower respiratory infection, heart murmur, psychomotor retardation, inverted nipples, and cerebellar atrophy. Echocardiography revealed a 8 mm secundum atrial septal defect with left-to-right shunt (Qp/Qs ratio 1.6). Enzyme testing of phosphomannomutase 2 demonstrated decreased levels of phosphomannomutase 2 activities in fibroblasts. Whole exon sequencing showed he was heterozygous for a frameshift mutation (p.I153X) and a missense mutation (p.I132T) in PMM2 gene. The diagnosis of congenital disorder of glycosylation type 1a with atrial septal defect was issued. Now, he is 3-years old at the time of this writing, with the development of congenital disorder of glycosylation type 1a (cerebellar atrophy become more severe and the symptom of nystagmus emerged), the size of atrial septal defect increased to 10 mm and the Qp/Qs ratio increased to 1.9, which suggested exacerbation of the atrial septal defect. Congenital heart defect-associated gene sequencing is then performed and shows there are no pathogenic mutations, which suggested intrinsic cardiac factors are not the cause of exacerbation of the atrial septal defect in our patient and it is reasonable to assume congenital disorder of glycosylation type 1a can worsen the situation of the existing atrial septal defect.ConclusionsThis report highlights the view that congenital disorders of glycosylation type 1a should be excluded when faced with congenital heart defect with cerebellar atrophy or neurodevelopmental delay, especially when the situation of congenital heart defect becomes more and more severe.

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“…An embryological mechanism has been proposed for conotruncal heart defects in carbohydrate-deficient glycoprotein syndrome type Ia patients by Romano and colleagues, wherein abnormal neural crest cell migration causes cardiac anomalies. 13 Many cell adhesion molecules, transcription factors, growth factors, and their receptors are involved in neural crest cell migration. 41 The authors believe that hypoglycosylation of glycoproteins involved in this process due to phosphomannomutase 2 deficiency creates abnormal neural crest cell migration, leading to congenital heart anomalies such as conotruncal heart defects.…”

Section: Underlying Mechanisms Of Cardiac Involvement In the Ataxiasmentioning

confidence: 99%

Cardiac Involvement in Hereditary Ataxias

Moore

Raman

2012

J Child Neurol

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Although much attention has been focused on the neurological sequelae of the hereditary ataxias, patients with these conditions also may develop cardiac complications that represent a significant cause of disability and even death. In this paper, we describe the hereditary ataxias with known cardiac involvement, discuss underlying causes, and review guidelines for screening and treatment. Continued progress will require coordinated clinical trial networks, interdisciplinary care teams, and team science.

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Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

Cited by 23 publications

References 14 publications

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Cardiac Involvement in Hereditary Ataxias

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