Congenital Heart Disease in Pregnancies Complicated by Maternal Diabetes Mellitus

Lisowski, Lukas A.; Verheijen, Paul M.; Copel, Joshua A.; Kleinman, Charles S.; Wassink, Sander; Visser, Gerard H.A.; Meijboom, E. J.

doi:10.1007/s00059-010-3244-3

Cited by 159 publications

(61 citation statements)

References 56 publications

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“…Bi-allelic loss of function mutations in PFKM result in diabetes as well as glycogen storage disease type VII (Tarui's disease) [62]. Our interest in PFKP was therefore additionally piqued by an unexplained, but longrecognized, increased risk for heterotaxy among the children of diabetic mothers [63].…”

Section: (B) Copy Number Variant Analyses Identify Novel Heterotaxy Gmentioning

confidence: 99%

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Cowan

Tariq

Shaw

et al. 2016

Phil. Trans. R. Soc. B

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Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically heterogeneous multiple congenital anomaly syndrome resulting from failure to properly establish left–right (L-R) organ asymmetry during early embryonic development. To identify novel genetic causes of heterotaxy, we analysed copy number variants (CNVs) in 225 patients with heterotaxy and heterotaxy-spectrum CHDs using array-based genotyping methods. Clinically relevant CNVs were identified in approximately 20% of patients and encompassed both known and putative heterotaxy genes. Patients were carefully phenotyped, revealing a significant association of abdominal situs inversus with pathogenic or likely pathogenic CNVs, while d-transposition of the great arteries was more frequently associated with common CNVs. Identified cytogenetic abnormalities ranged from large unbalanced translocations to smaller, kilobase-scale CNVs, including a rare, single exon deletion in ZIC3, a gene known to cause X-linked heterotaxy. Morpholino loss-of-function experiments in Xenopus support a role for one of these novel candidates, the platelet isoform of phosphofructokinase-1 ( PFKP ) in heterotaxy. Collectively, our results confirm a high CNV yield for array-based testing in patients with heterotaxy, and support use of CNV analysis for identification of novel biological processes relevant to human laterality. This article is part of the themed issue ‘Provocative questions in left–right asymmetry’.

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Section: (B) Copy Number Variant Analyses Identify Novel Heterotaxy Gmentioning

confidence: 99%

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Cowan

Tariq

Shaw

et al. 2016

Phil. Trans. R. Soc. B

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“…Hiperglisemi durumunda glikozdan sorbitol oluşumu artar. Bu madde, serbest oksijen radikallerinin artmasına yol açar, hücre ve DNA hasarı meydana gelir 10,13 . Gebelikte DM hastalığı tespit edildiğinde hastalığın başlama zamanı, süresi ve vasküler komplikasyonların varlığına göre White sınıflaması yapılır.…”

Section: Patofizyolojiunclassified

“…Başka bir çalışmada, DAB'ların % 13'ünde DKH bulunduğu tespit edilmiştir 23 . Spesifik hastalıklar arasında ventriküler septal defekt (VSD), atriyal septal defekt, atriyoventriküler septal defekt, VSD ile birlikte olabilen veya interventriküler septumun intakt olduğu büyük arter transpozisyonu (BAT), trunkus arteriyozus, çift çıkışlı sağ ventrikül, Fallot tetralojisi, triküspit, pulmoner ve mitral atrezi, patent duktus arteriyozus, tek atriyum, tek ventrikül, hipoplastik sol kalp sendromu, Ebstein anomalisi, pulmoner stenoz, aort stenozu, total veya parsiyel anormal pulmoner venöz dönüş, heterotaksi sendromları, aort koarktasyonu ve tek umblikal ven sayılabilir 8,10,13,15,19,24,25 . Patent duktus arteriyozus, doğumdan sonraki ilk 48 saatte normal bebeklere göre daha sık tespit edilir ama genelde kendiliğinden veya medikal tedavi ile kapanır, cerrahi ligasyona gerek kalmaz 10,16 .…”

Section: Doğumsal Kalp Hastalıklarıunclassified

Diyabetik Anne Bebeğinde Görülen Kardiyovasküler Komplikasyonlar

Güvenç¹,

Güzeltaş²

2017

Arşiv Kaynak Tarama Dergisi

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Diabetes mellitus is a condition that has negative effects on fetal development throughout pregnancy and causes metabolic disorders and congenital abnormalities in neonates. The most frequent congenital abnormalities are seen in cardiovascular, gastrointestinal, genitourinary system and central nervous system. The cardiac abnormalities that may develop include ventricular and atrial septal defect, patent ductus arteriosus, asymmetrical septal hypertrophy, large artery transposition, tricuspid atresia and aortic contraction. The infants of diabetic mothers need to be followed up also in respect of congenital heart diseases as of the intrauterine period. In this study, we aimed to evaluate the problems of infants of diabetic mothers and to determine risk factors of mothers during pregnancy.

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“…Transposition of the great vessels, Fallot tetralogy, double outlet right ventricle, persistent truncus arteriosus, and aortic arch interruption are included in this category. A review of the literature by Lisowski et al has shown that these defects make up about a quarter of heart disease found in children of diabetic mothers [5]. The pathological process underlying this altered morphogenesis is not entirely clear.…”

Section: Introductionmentioning

confidence: 99%

“…In particular, incidence of congenital heart disease is increased by about 4 times compared to the general population [1]. Conotruncal malformations are the most frequent cardiac alterations [4,5]. This group of congenital defects affects ventricular outflows and large arteries and originate from an interruption in the process of septation and rotation of common arterial trunk from which normally the aorta and the pulmonary artery separate.…”

Section: Introductionmentioning

confidence: 99%