Holt-Oram syndrome: A case report

Chin, Joana; Pereira, S Couto; Camacho, Ana; Pessoa, Bernardo M.; Bento, Dina; Amado, J. A.; Pereira, Jorge; Jesus, Ilídio de

doi:10.1016/j.repc.2014.06.005

Cited by 6 publications

(7 citation statements)

References 8 publications

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“…According to previously studies, spontaneous closure occurs frequently in young patients (diagnosis at younger than 1 year) with small defects (size ≤ 8 mm) [ 1 ]. However, in many patients with a genetic syndrome with ASD, defects do not close spontaneously, most of them remain unchanged, even increased, especially in those mutations in genes essential to cardiac septation such as Holt–Oram syndrome ( NKX2-5 mutation) [ 2 ].…”

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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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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“…TBX5 mutation was detected only in 74% of HOS affected individuals. [ 6 ] There were no TBX5 gene mutations in both of the cases.…”

Section: Discussionmentioning

confidence: 97%

“…[ 4 5 ] However, sporadic cases have also been reported. [ 6 ] Upper limb abnormalities, such as phocomelia and minor thumb anomalies are also observed in all patients. In 50-95% of patients ostium secundum type ASD, VSD, patent ductus arteriosus, heart block, and disorders such as Wolff–Parkinson–White syndrome are observed.…”

Section: Discussionmentioning

confidence: 99%

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome

Ali

Karavelioğlu

Embleton

et al. 2016

J Indian Assoc Pediatr Surg

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“… 1 , 17 Hip dysplasia is a congenital malformation previously reported in only one patient with HOS, 6 due to hip malformation being an isolated sign of HOS, it is proposed as a random association and does not eliminate the diagnosis to HOS, as some authors have suggested in previous studies. 2 , 25 …”

Section: Discussionmentioning

confidence: 99%

A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome

Ríos-Serna¹,

Díaz-Ordóñez²,

Candelo³

et al. 2018

TACG

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Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the TBX5 gene at NM_181486.2:c.243-1G>C was identified.

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Holt-Oram syndrome: A case report

Cited by 6 publications

References 8 publications

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

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

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome

A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome

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Holt-Oram syndrome: A case report

Cited by 6 publications

References 8 publications

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

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

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome

A novel de novo <em>TBX5&nbsp;</em>mutation in a patient with Holt-Oram syndrome

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A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome