scholarly journals Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

2021 ◽  
Vol 9 ◽  
Author(s):  
Linda Gaillard ◽  
Anne Goverde ◽  
Quincy C. C. van den Bosch ◽  
Fernanda S. Jehee ◽  
Erwin Brosens ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Missense Variant ◽  
Cranial Sutures ◽  
Missense Mutations ◽  
Craniofacial Anomalies ◽  
Review Of The Literature ◽  
Complex Disorder ◽  
Whole Exome ◽  
Life Threatening

Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a BCL11B missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis. We applied targeted sequencing of BCL11B in patients with craniosynostosis or with a combination of craniosynostosis and CDH. This resulted in three additional BCL11B missense mutations in patients with craniosynostosis. The phenotype of the patient with both CDH as well as craniosynostosis was similar to the phenotype of previously reported patients with BCL11B missense mutations. Although these findings imply that both craniosynostosis as well as CDH may be associated with BCL11B mutations, further studies are required to establish whether BCL11B variants are causative mutations for both conditions or if our finding was coincidental.

scholarly journals Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Meng Yuan ◽  
Yi Guo ◽  
Hong Xia ◽  
Hongbo Xu ◽  
Hao Deng ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Missense Variant ◽  
Han Chinese ◽  
Chinese Patients ◽  
Splicing Variant ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Gated Channel ◽  
Life Threatening ◽  
Glycerol 3 Phosphate Dehydrogenase

Brugada syndrome (BrS) is a complexly genetically patterned, rare, malignant, life-threatening arrhythmia disorder. It is autosomal dominant in most cases and characterized by identifiable electrocardiographic patterns, recurrent syncope, nocturnal agonal respiration, and other symptoms, including sudden cardiac death. Over the last 2 decades, a great number of variants have been identified in more than 36 pathogenic or susceptibility genes associated with BrS. The present study used the combined method of whole exome sequencing and Sanger sequencing to identify pathogenic variants in two unrelated Han-Chinese patients with clinically suspected BrS. Minigene splicing assay was used to evaluate the effects of the splicing variant. A novel heterozygous splicing variant c.2437-2A>C in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) and a novel heterozygous missense variant c.161A>T [p.(Asp54Val)] in the glycerol-3-phosphate dehydrogenase 1 like gene (GPD1L) were identified in these two patients with BrS-1 and possible BrS-2, respectively. Minigene splicing assay indicated the deletion of 15 and 141 nucleotides in exon 16, resulting in critical amino acid deletions. These findings expand the variant spectrum of SCN5A and GPD1L, which can be beneficial to genetic counseling and prenatal diagnosis.

Tetralogy of Fallot with congenital diaphragmatic hernia and left lung hypoplasia: assessment of the adequacy of the peripheral pulmonary vascular growth after hernia repair

2011 ◽  
Vol 22 (2) ◽  
pp. 235-238 ◽  
Author(s):  
Hong Ju Shin ◽  
Won Kyoung Jhang ◽  
Tae Jin Yun
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Tetralogy Of Fallot ◽  
Diaphragmatic Hernia ◽  
Left Lung ◽  
Lung Hypoplasia ◽  
Vascular Growth ◽  
Threatening Condition ◽  
Central Pulmonary Artery ◽  
Life Threatening ◽  
Vascular Beds

AbstractCongenital diaphragmatic hernia is a life-threatening condition frequently associated with various congenital cardiac diseases. In congenital diaphragmatic hernia associated with tetralogy of Fallot, central pulmonary artery size of the affected side may not reflect the capacitance of peripheral pulmonary vascular beds. We report a case of congenital diaphragmatic hernia associated with tetralogy of Fallot, which was repaired after assessing the adequacy of the pulmonary vascular beds by intra-operative pulmonary blood flow study.

Prostaglandin E1 in infants with congenital diaphragmatic hernia (CDH) and life-threatening pulmonary hypertension

2020 ◽  
Vol 55 (9) ◽  
pp. 1872-1878
Author(s):  
Kévin Le Duc ◽  
Sébastien Mur ◽  
Dyuti Sharma ◽  
Estelle Aubry ◽  
Morgan Recher ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Prostaglandin E1 ◽  
Life Threatening

scholarly journals Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Amjad Khan ◽  
Muhammad Umair ◽  
Rania Abdulfattah Sharaf ◽  
Muhammad Ismail Khan ◽  
Amir Ullah ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Hypothyroidism ◽  
Autosomal Recessive ◽  
Missense Variant ◽  
Thyroid Peroxidase ◽  
Mild Intellectual Disability ◽  
Complex Disorder ◽  
Whole Exome ◽  
Hereditary Disorders ◽  
Autosomal Recessive Manner

AbstractCongenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. CH is a multifactorial complex disorder and can be caused by either environmental factors or genetic factors. We studied one Pakistani family with segregating mutations in CH inherited in an autosomal recessive manner. Using whole-exome sequencing (WES), we found a novel homozygous missense variant (c.2315A>G; p.Tyr772Cys) in the thyroid peroxidase (TPO) gene. Different bioinformatics prediction tools and Sanger sequencing were performed to verify the identified variant. Our findings highlight the importance of this gene in causing CH and mild-intellectual disability (ID) in two affected brothers. WES is a convenient and useful tool for the clinical diagnosis of CH and other associated disorders.

scholarly journals Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Maria Arafah ◽  
Deena T. Boqari ◽  
Khaled O. Alsaad
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Congenital Anomalies ◽  
Pathological Finding ◽  
Hepatic Tissue ◽  
Multiple Congenital Anomalies ◽  
Hernia Sac ◽  
Congenital Cardiac Anomalies ◽  
Life Threatening ◽  
Uncertain Etiology

Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

scholarly journals Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

2020 ◽  
Vol 95 (1) ◽  
pp. 44-47
Author(s):  
Marta Komarowska ◽  
Ewa Matuszczak ◽  
Marcin Baran ◽  
Ewa Dzienis-Koronkiewicz ◽  
Adam Hermanowicz ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Tuberous Sclerosis ◽  
Diaphragmatic Hernia ◽  
Review Of The Literature

Late-Presenting Congenital Diaphragmatic Hernia: A Potentially Life Threatening Case

2009 ◽  
Vol 16 (2) ◽  
pp. 102-105 ◽  
Author(s):  
HY Chan ◽  
CC Wong ◽  
F Ng
Keyword(s):  
Respiratory Distress ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Sudden Onset ◽  
Mediastinal Shift ◽  
Wide Range ◽  
Urgent Operation ◽  
Life Threatening

Congenital diaphragmatic hernia (CDH) generally presents with respiratory distress in the neonatal period. Late onset CDH is less common and is associated with a wide range of clinical symptoms. We report a case of a 4-year-old child presenting with sudden onset of dizziness, abdominal pain and vomiting after swimming. Radiological investigations showed a left CDH with mediastinal shift. She gradually developed respiratory distress after admission. Urgent operation showed that the contents of the hernia included stomach, spleen, small and large bowels. This case highlights the importance of suspicion of CDH, proper clinical examination and investigation of children with acute non-specific gastrointestinal complaints.

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