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  1. From Molecule to Men [electronic resource] : Molecular Basis of Congenital Cardiovascular Disorders
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  3. From Molecule to Men: Molecular Basis of Congenital Cardiovascular Disorders
  4. The molecular basis of congenital heart disease.

From Molecule to Men [electronic resource] : Molecular Basis of Congenital Cardiovascular Disorders

Newer molecular cytogenetics techniques with high resolution such as fluorescence in situ hybridization FISH , microsatellites ie, repeated DNA units of base pairs in length, neutral and co-dominant, present in both nucleus and organelles, they are used as molecular markers to study gene dosage and identification of duplications or deletions of a particular genetic region genotyping and bioinformatics ie, information technology applied to the field of molecular biology are some of the techniques capable to facilitate the clinical diagnoses of chromosomal damage such as chromosomal microdeletions and small translocations..

The authors believe that this type of evaluation on siblings of the proband will be valuable in early diagnosis and treatment.. Notwithstanding, using microsatellite genotyping, Lee et al were able to identify a higher number of deletions compared to FISH methodology, probably because the resolution was higher with microsatellite and likely because in some cases a syndromic VSD was present. To explain these results it is suggested that some other chromosomal regions might be affected. This is an important finding that underlines the importance of screening siblings of each proband..

Taking advantage of available bioinformatics methodology Lee et al were able to establish the identity of a number of genes within the HSA22q11 regions, and genomic dosages were measured using quantitative PCR. Previously, TBX1 mutations have been found in patients with HSA22q11 deletion but without 22q11 microdeletion or apparent rearrangement within this region. In animal models, mutations in a large number of genes have been associated with VSD, usually in combination with other complex heart defects.

Furthermore, the signaling function of the Notch receptors, members of a gene family encoding transmembrane receptors and ligands involved in cell fate decisions, may be critical for ventricular septation. Targeted disruption of many other genes participating in signaling pathways have been implicated in animal models that produce VSD.

RXR defects may primarily relate to an epicardial abnormality in trophic signaling required for cardiomyocyte proliferation and ventricular morphogenesis. Hence, diverse mechanisms in multiple cell types can converge to result in a phenotype that includes VSD.. Large chromosomal deletions have also been implicated in developmental and structural malformations of the heart, which include conotruncal abnormalities, AVC, VSD, and ASD.

Most patients are hemizygous for a 1. A gene TBX1 derived from the central area of the deleted region has been identified as the critical factor in the development of this congenital defect. TBX1, a member of a phylogenetically conserved family of genes that share a common DNA-binding domain ie, the T-box 21 encodes a transcription factor involved in the regulation of cardiac development; reduction in TBX1 expression, which occurs in the deleted hemizygous state, often referred to as haploinsufficiency impacts greatly on the early gene expression involved in cardiac morphogenesis..

In summary, recent progress in molecular genetics technology have just begun to be applied in studies of CHD by allowing chromosomal mapping, and the identification of many genes involved in both the primary etiology and also as significant risk factors in the development of these anomalies.

Identification of novel genes involved in cardiac organogenesis and vascular development will serve as an important foundation for our understanding how specific congenital gene defects generates their cardiac phenotypes. Although not yet precisely known, the mechanisms governing the early specification of cardiac chambers in the developing heart tube appear to involve novel cell-to-cell signaling amongst migrating cells, as well as the triggering of chamber-specific gene expression programs, mediated by specific transcription factors and growth factors.


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Forthcoming research will focus on elucidating the role of network modules of signaling molecules using conditional gene knock-outs in a variety of genetic backgrounds , and accessing their interaction with critical transcription factors. These approaches may become important tools in the early diagnosis of cardiac defects during embryogenesis increasing the possibilities of treatment eg, gene delivery , prior to the forming of the heart.

Finally, as pointed out by Lee et al, evaluation of CHD at the genomic level may allow a more effective stratification of patient subclasses, as well as the targeting and optimization of patient-specific therapy. Correspondence: Dr J. Home Articles in press Current Issue Archive. ISSN: Previous article Next article. Issue 3. Pages March Download PDF.

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Moreover, developing new technology may offer a great opportunity for further advancement in genetic diagnostics and for the future of gene therapy. It is of interest that clinically distinct malformations can arise from single genetic defects, suggesting that unrelated cardiac structures likely share similar developmental pathways. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics..

Circulation, , pp. Rev Esp Cardiol, 57 , pp. Nature, , pp. Congenital heart disease caused by mutations in the transcription factor NKX Science, , pp. Nat Genet, 25 , pp. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.. Cell, , pp.

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From Molecule to Men: Molecular Basis of Congenital Cardiovascular Disorders

Clinical and molecular genetics of Alagille syndrome.. Curr Opin Pediatr, 11 , pp. Nat Genet, 29 , pp. J Med Genet, 39 , pp. Rev Esp Cardiol, 62 , pp. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q deletions.. Am J Hum Genet, 80 , pp.

The molecular basis of congenital heart disease.

J Clin Invest, , pp. RXR mutant mice establish a genetic basis for vitamin A signaling in heart morphogenesis.. Genes Dev, 8 , pp. Book Description Condition: Brand New. Printing in English language. We may ship the books from Asian regions for inventory purpose. More information about this seller Contact this seller. Book Description Steinkopff , Condition: New. Seller Inventory ZZN.

Congenital Heart Disease: Many Genes Lead to a Broken Heart

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