Congenital heart defects in Williams syndrome

Yuan, Shi‐Min

doi:10.24953/turkjped.2017.03.001

Cited by 34 publications

(38 citation statements)

References 44 publications

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“…Case 10 revealed Williams-Beuren syndrome, a well-defined multisystem disorder that is caused by a chromosome 7q11.23 deletion. As previously described, congenital cardiovascular defects are the most clinically significant in 80% of patients with Williams-Beuren syndrome, which is caused by haplo insufficiency in the elastin (ELN) [ 23 , 24 ]. The ultrasound feature of case 10 was CoA and FGR, which was also reported in a study by Yuan et al [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Liu

et al. 2020

Mol Diagn Ther

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Background Aortic arch abnormalities (AAA) are abnormal embryologic developments of the aorta and its branches. Their outcomes often depend on their association with other congenital diseases and genetic testing results. Objective This study aimed to evaluate the yield of chromosomal microarray analysis (CMA) in fetuses with different patterns of AAA and normal karyotype. Methods Data from 158 pregnancies referred for prenatal CMA testing due to fetal AAA were obtained between April 2016 and April 2019. Fetuses with isolated AAA, AAA accompanied by soft ultrasound markers, and AAA with other ultrasound malformations were classified into groups A, B, and C, respectively. Cases with detectable karyotype aberrations were excluded from the study. Results Twenty cases (12.7%) of submicroscopic anomalies were detected in 158 cases with normal karyotype, comprising 16 cases (10.1%) of clinically significant variants, two cases (1.3%) of variants of unknown significance, and two variants (1.3%) that were likely benign. Microdeletion of 22q11.2 accounted for 25% (4/16) of the clinically significant variants. The overall incremental yields by CMA in group A, group B, and group C were 1.8%, 2.3%, and 24.1%, respectively. Except for double aortic arch, the incremental yield of clinical significant findings for each type of AAA in group C was much higher than that in group A and group B. In group A, a clinically significant variant was only detected in one fetus with right aortic arch (RAA) (1.8%, 1/57). Conclusions In addition to 22q11.2 microdeletion, many other clinically significant submicroscopic variants are present in fetuses with AAA, especially in fetuses with other ultrasound malformations. Although CMA is always recommended in the presence of any malformation in many countries, our results suggest insufficient evidence to recommend CMA in fetuses with isolated AAA, except for isolated RAA.

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Section: Discussionmentioning

confidence: 99%

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Liu

et al. 2020

Mol Diagn Ther

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“…CAs are responsible for more than 50% of spontaneous abortions 2 . Many studies have demonstrated the epidemiology of CA in groups with spontaneous abortions and specific congenital malformations 2–4 . Sezin Yakut showed that cytogenetic abnormalities were detected in 127 of 382 spontaneous abortion cases (33.24%) and that autosomal trisomies were the predominant CA, with a frequency of 48.8% 5 .…”

Section: Introductionmentioning

confidence: 99%

Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial‐wide birth defects monitoring system

Xie

Yang

Fang

et al. 2020

J of Obstet and Gynaecol

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Aim To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial‐wide birth defects‐monitoring system, which could provide scientific basis for making relatively policy and research. Methods Chromosomal abnormalities cases were collected from all hospitals in Hunan Province, China, between 2016 and 2019. The prevalence of CAs was calculated to examine associations among infant sex, maternal age and region. The rates of prenatal diagnosis and termination of pregnancy (TOP) involving CA or associated anomalies were calculated as rates or proportions. Results From 2016 to 2019, a total of 2 883 890 perinatal infants (28 weeks of gestation to postpartum 7 days) underwent prenatal screening and diagnostic tests, and 3181 fetuses were diagnosed as CA, with the prevalence of 11.03/10 000. The average prevalence of CAs was higher for male than female fetuses (11.33/10 000 vs 10.06/10 000) (OR = 1.13, 95% CI: 1.05–1.21), which was higher in urban areas than rural areas (23.03/10 000 vs 7.13/10 000) (OR = 3.23, 95% CI: 3.02–3.47), and the prevalence increased linearly with maternal age (Xtrend2 = 1821.844, P = 0.000). Among the fetuses with CAs, 3097 (97.36%) were diagnosed prenatally, and 3046 (98.35%) underwent TOP. The majority of CA were numerical abnormalities (90.18%). The main types of numerical autosomal abnormalities were trisomy 21 (6.69/10 000, 59.57%), trisomy 18 (1.13/10 000, 10.04%) and trisomy 13 (0.21/10 000, 1.88%). The main types of numerical gonosomal abnormalities were Klinefelter syndrome (0.68/10 000, 6.02%), Turner syndrome (0.49/10 000, 4.39%), Triple X syndrome (0.26/10 000, 2.29%) and 47,XYY syndrome (0.21/10 000, 1.91%). The three associated anomalies with the highest proportions were congenital heart defects (CHD) (41.06%), cleft palate or/and cleft lip (10.89%) and congenital talipes equinovarus (8.94%). Conclusion The prevalence of CA was lower than that reported. Chromosome detection should be further promoted including test contest and coverage, especially for urban areas, older mothers and fetuses with CHD, cleft palate or/and cleft lip or congenital talipes equinovarus.

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“…[9,10] WS with cardiovascular abnormalities is diagnosed at an average age of 6.2 years. [11] In our patient, she was hospitalized due to hypoxic symptoms at the age of 10 days. At that age, the elfin facial appearance typical of WS had not become evident.…”

Section: Resultsmentioning

confidence: 99%

Infracardiac total anomalous pulmonary venous return in a patient with Williams syndrome

Zou

Wang

et al. 2019

Medicine

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Rationale: Total anomalous pulmonary venous return (TAPVR) is a rare condition, accounting for 1% of all congenital heart diseases, and an atypical cardiovascular abnormality in Williams syndrome (WS). Here, we report a rare case of WS combined with infracardiac TAPVR. Patient concerns: A female newborn presented shortness of breath and purpura after crying at the age of 10 days. Diagnosis: Based on clinical symptoms and laboratory and echocardiographic findings, the patient was diagnosed with infracardiac TAPVR. Interventions: We performed infracardiac total anomalous pulmonary venous connection repair surgery. Outcomes: The operation was successful and the patient was discharged from the hospital uneventfully after 2 months of treatment. However, we diagnosed the patient with WS in addition to infracardiac TAPVR 6 months postoperatively. Lessons: This case demonstrates that patients with WS can have associated infracardiac TAPVR. The postoperative growth patterns and changes in the diameters of the aorta and pulmonary arteries were related closely to our early diagnosis of TAPVR associated with WS.

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Congenital heart defects in Williams syndrome

Cited by 34 publications

References 44 publications

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial‐wide birth defects monitoring system

Infracardiac total anomalous pulmonary venous return in a patient with Williams syndrome

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