The telomeric repeat amplification protocol (TRAP) assay has been used to test telomerase activity in numerous cancer specimens. We describe primers, controls and quantification methods for the TRAP assay to accurately measure the level of telomerase activity in clinical samples. The assay is reliable and reproducible in routine analyses and can be used to estimate the processivity of telomerase activity.

ABSTRACT:Life expectancy and quality of life for those born with congenital heart disease (CHD) have greatly improved over the past 3 decades. While representing a great advance for these patients, who have been able to move from childhood to successful adult lives in increasing numbers, this development has resulted in an epidemiological shift and a generation of patients who are at risk of developing chronic multisystem disease in adulthood. Noncardiac complications significantly contribute to the morbidity and mortality of adults with CHD. Reduced survival has been documented in patients with CHD with renal dysfunction, restrictive lung disease, anemia, and cirrhosis. Furthermore, as this population ages, atherosclerotic cardiovascular disease and its risk factors are becoming increasingly prevalent. Disorders of psychosocial and cognitive development are key factors affecting the quality of life of these individuals. It is incumbent on physicians who care for patients with CHD to be mindful of the effects that disease of organs other than the heart may have on the well-being of adults with CHD. Further research is needed to understand how these noncardiac complications may affect the long-term outcome in these patients and what modifiable factors can be targeted for preventive intervention.

The Fontan procedure has undergone many modifications since first being performed on a patient with tricuspid valve atresia in 1968. It is now the procedure of choice for individuals born with single-ventricle physiology or for those in whom a biventricular repair is not feasible. Forty years of experience with the Fontan procedure have gradually revealed the shortfalls of such a circulatory arrangement. Sequelae related to the underlying congenital anomaly or to the altered physiology of passive, nonpulsatile flow through the pulmonary arterial bed can result in failure of the Fontan circulation over time. Liver abnormalities including abnormalities in the clotting cascade have been well documented in Fontan patients. The clinical significance of these findings, however, has remained poorly understood. As Fontan survivors have increased in age and number, we have begun to better recognize subclinical hepatic dysfunction and the contribution of liver disease to adverse outcomes in this population. The purpose of this review is to summarize the existing data pertaining to liver disease in the Fontan population and to identify some questions that have yet to be answered.

Fontan patients with a higher MELD-XI score have shorter freedom from sudden cardiac death, death from congestive heart failure and cardiac transplantation.