Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare

Jiang, Lihong; Hou, Zongliu; Duan, Changqing; Chen, Baowen; Chen, Zhiyi; Li, Yaxiong; Huan, Youming; Wu, Kenneth K.

doi:10.1016/j.ijcard.2009.10.013

Cited by 4 publications

(3 citation statements)

References 13 publications

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“…Jiang et al suggested that even isolated congenital heart disease has a strong association with DGS, and that 22q11.2 deletion should be investigated in such cases. 5 …”

Section: Discussionmentioning

confidence: 99%

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DiGeorge Syndrome: a not so rare disease

Fomin

Pastorino

Kim

et al. 2010

Clinics

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INTRODUCTION:The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions.OBJECTIVES:To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome.METHODS:Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities.RESULTS:Of 14 patients (8m – 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n = 2).CONCLUSION:The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.

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“…Jiang et al suggested that even isolated congenital heart disease has a strong association with DGS, and that 22q11.2 deletion should be investigated in such cases. 5 …”

Section: Discussionmentioning

confidence: 99%

“…Cardiac abnormalities, mainly conotruncal defects, have been found in DGS, and several authors have pointed out that isolated congenital heart disease may be associated with it. 5 …”

Section: Introductionmentioning

confidence: 99%

DiGeorge Syndrome: a not so rare disease

Fomin

Pastorino

Kim

et al. 2010

Clinics

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“…Conotruncal CHD (CCHD) is one of the most common phenotypic manifestations in 22q11DS. However, imbalances in the 22q11 region were also found in a significant number of patients with isolated CCHD [19,20]. We successfully resolved 132 of the 137 samples selected for MLPA analysis and found 27 (20.5%) patients with an imbalance (Table 1).…”

Section: Resultsmentioning

confidence: 92%

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Delea

Massara

Espeche

et al. 2020

The 1st International Electronic Conference on Genes: Theoretical and Applied Genomics

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In this work, we aim to identify the genetic causes of pathogenesis in Argentinean patients with multiple congenital anomalies (MCA) and isolated Congenital Heart Disease (iCHD). We recruited 174 MCA and 194 iCHD patients from 15 public hospitals. Karyotyping was performed for MCA patients, and MLPA for conotruncal CHD or suspected 2q11 Deletion Syndrome (22q11DS). Selected samples were analyzed by array-CGH (Comparative genomic hybridization) (n = 89) and/or Next-Generation Sequencing (NGS) (n = 18). We successfully analyzed 252/368 patients: 14 had cytogenetic abnormalities, 27 had imbalances in 22q11, and 16 had other clinically relevant copy number variations (CNVs). NGS revealed 12 relevant nucleotide variants (five novels). Combining molecular, clinical and genetic evaluations, the diagnostic yield was 26.2%.

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Transcription Factor Pathways and Congenital Heart Disease

McCulley

Black

2012

Current Topics in Developmental Biology

273

199

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Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result.

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Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare

Cited by 4 publications

References 13 publications

DiGeorge Syndrome: a not so rare disease

DiGeorge Syndrome: a not so rare disease

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Transcription Factor Pathways and Congenital Heart Disease

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