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Cytogenetic, molecular, and clinical genetic studies have contributed to our understanding of the etiology, pathogenesis, and natural history of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Submicroscopic deletions of chromosome 22q11.2 are the leading ca ...

Cardiac septation defects are among the most common birth defects in humans. The frequency of these defects reflects the complexity of cardiogenesis, which involves such processes as cell proliferation, migration, differentiation, and morphogenetic interactions. Major adva ...

In this chapter, the up-to-date understanding of the molecular basis of disorders causing arrhythmias are outlined. Several arrhythmic disorders have been well described at the molecular level, including the long QT syndromes (LQTS), Brugada syndrome, and polymorphic ventricular ...

Marfan syndrome is an autosomal-dominant connective tissue disorder characterized by pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems and resulting from mutations in the gene for fibrillin, FBN1. The clinical diagnosis is based on a set of w ...

The chapter details the methodology for polymerase chain reaction amplification and WAVE denaturing high-performance liquid chromatography (DHPLC) analysis for all coding exons for the gene PTPN11, which is mutated in approx 50% of cases of Noonan Syndrome. Although DNA sequencing ...

Williams-Beuren syndrome (WBS) is most commonly caused by a 1.5-Mb hemizygous deletion of chromosome 7q11.23. Other genomic rearrangements of this region have also been described, some as polymorphisms and others as rare variants, the latter often being directly associated with clini ...

Supravalvular aortic stenosis (SVAS) is a congenital heart disease that can occur as an iso-lated autosomal-dominant condition or as part of the developmental disorder Williams-Beuren syndrome (WBS) and is caused by heterozygous genetic lesions involving the elastin (ELN) gene loc ...

Congestive heart failure (CHF) is characterized by impaired cardiovascular reflexes and increased neurohumoral drive. The long-term sympatho-excitation increases the progression and risk of mortality during CHF. The paraventricular nucleus (PVN) of the hypothalamus is a ve ...

In view of the limitations of current cardiac gene transfer techniques by direct myocardial injection, or via the coronary vasculature, we have been attempting to develop potentially clinically applicable methods. Selective catheterization of the coronary arteries has been per ...

In this chapter we provide a detailed technique-focused protocol for expression of human endothelial nitric oxide synthase (eNOS) gene delivered by replication-deficient adenovirus. It includes construction of recombinant plasmid with human eNOS gene full-length cDNA (heN ...

TAT protein transduction is a novel method of delivering biologically active proteins into cells and tissues through the fusion of a protein transduction domain to the protein of interest. The present chapter outlines the methodology pertaining to the preparation of TAT-fusion prote ...

The use of specialized reporter genes to monitor real-time, tissue-specific transgene expression in animal models offers an opportunity to circumvent current limitations associated with the establishment of transgenic mouse mod els. The Cre-loxP and the tetracycline (Tet)-in ...

RNA interference (RNAi) is a new and rapidly progressing technology for facilitating functional gene silencing. To perform highly efficient RNAi in cardiomyocytes, vascular smooth muscle cells, and vascular endothelial cells, which are known to have very low transfection effici ...

Cell transplantation is a novel therapy for patients with postinfarction ven tricular dysfunction and congestive heart failure. The potential of mesenchy mal stem cells (MSCs) to be used in the injured myocardium is unlimited because of their ability to self-renew and differentiate in ...

Embryonic stem (ES) cells represent a source for cell-based regenerative therapies of heart failure. The pluripotency and the plasticity of ES cells allow them to be committed to a cardiac lineage following treatment with growth factors of the transforming growth factor (TGF)-β superfa ...

Cardiomyocytes are final differentiated cells that lose the ability to regen erate. Autologous cellular transplantation for cardiac repair has recently emerged as a promising new approach for end-stage heart failure that avoids the risk of immune rejection and ethical problems. Sk ...

We review an experimental protocol for investigating concepts and methods for myocardial repair using fetal cardiomyocyte transplantation. We describe methods of cell isolation, culture, labeling, and assessment of the influence of the engrafted cells on left ventricular remo ...

Currently, the tenet that heart muscle cells are terminally differentiated and incapable of self-repair is being challenged. Recent experimental observations suggest that both endogenous and exogenous stem cell populations have the potential to regenerate damaged areas wit ...

Bone marrow-derived endothelial progenitor cells (EPCs) are present in the systemic circulation, are augmented in response to certain cytokines and/or tissue ischemia, and home to as well as incorporate into sites of neovascularization. The EPC cell culture is extremely important for ...

Earlier studies from our laboratory have demonstrated the appearance of a high Mr (182-kDa) phosphoprotein during early stages of development of cardiac hypertrophy in the sera of animals subjected to aortic constriction. Furthermore, it has been reported that the injection of purifi ...