FYI from the NHLBI Index
January 2008: Vol. 8, Issue 3
In the News
News from Capitol Hill
Science Advances from the NHLBI
- New Research Shows that Genes Cause Hypoplastic Left Heart Syndrome
- Teenagers with Sleep Apnea Are at Risk for Heart Disease and Diabetes
- COPD May Have Origins in Infancy
News from Capitol Hill
The fiscal year (FY) 2008
appropriations process was completed on December 26, 2007, when the President signed the 2008 Consolidated
Appropriations Act (H.R. 2764) into law (Public Law 110-161). The law, which has been referred to as an gomnibush
measure because it includes several bills that typically are discussed and voted on separately, provides $29.3 billion
for the National Institutes of Health, a 1.1 percent increase over the FY 2007 appropriation.
On October 15, the House expressed support for research on Diamond-Blackfan anemia (DBA) with the
passage of H. Res. 524, a resolution introduced by Representative Carolyn McCarthy (D-NY). The House
recognized that research in this area may advance the understanding of DBA, identify implications of
cancer predisposition, and serve as an important model for understanding human development and the
molecular basis for certain birth defects. The House also commended the Daniella Maria Arturi
Foundation and the Diamond-Blackfan Anemia Foundation for their work with the National Institutes
of Health and the Centers for Disease Control and Prevention.
NHLBI Director Briefs COPD Congressional Caucus
NHLBI Director Elizabeth G. Nabel, M.D., was honored to provide an update on
COPD research and awareness-building activities to the Congressional COPD
Caucus at a Capitol Hill briefing sponsored by the U.S. COPD Coalition. Dr. Nabel
shared the dais with Senator Mike Crapo (R-ID) and Representative Cliff Stearns (R-FL),
two members of the COPD Caucus, as well as Grace Anne Dorney Koppel, patient
advocate and spokesperson for the NHLBI's COPD Learn More Breathe Better campaign.
Recent Advances from the NHLBI
New Research Shows that Genes Cause Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a severe cardiovascular malformation that is a leading cause of infant mortality
and childhood morbidity. In HLHS, the left side of the heart is underdeveloped and the aortic and mitral valves
are narrowed or closed completely, impairing the ability of the heart to supply oxygen-rich blood to the body. Research on
whether genetics plays a large or relatively minor role in the development of HLHS has been inconclusive.
Investigators supported by the NHLBI examined 38 individuals with HLHS along with several members of their families
from three generations to determine whether HLHS is primarily the result of genes passed from parent to child. Results
confirmed that many family members of individuals with HLHS also had either HLHS or various other cardiovascular
malformations including bicuspid aortic valve (BAV) defect, a less serious cardiovascular abnormality.
HLHS has been considered a candidate for fetal therapy to preempt progression of the disease from a valve
disorder to the irreversible underdevelopment of the left side of the heart. However, given the substantial
risks involved in fetal intervention therapies, the ability to predict which fetuses will progress to disease, and
to personalize their treatment based on their genetic risk factors, is critical. The study provides a foundation on which to begin to determine the genetic information needed to guide treatment decisions. In addition, the findings will allow better genetic counseling for families with a history of HLHS, including early screening and detection of HLHS, BAV, and other cardiovascular malformations.
Teenagers with Sleep Apnea Are at Risk for Heart Disease and Diabetes
Sleep apnea in children is associated with repeated stops and starts in breathing caused by obstruction
of the airway by soft tissue in the throat. Loud snoring and excessive daytime sleepiness are common symptoms.
Apnea exposes children to recurrent episodes of low blood oxygenation and disturbs the normal pattern of sleep, leading
to abnormalities in cortisol and growth hormone secretion, impaired glucose metabolism, and increased appetite for carbohydrates.
Current evidence suggests that sleep apnea is strongly associated with overweight and obesity, which affect an estimated 15-45 percent of American teenagers.
New findings from an NHLBI-supported urban community-based study of teens indicate that sleep apnea
is a risk factor for metabolic syndrome (a constellation of conditions that includes abnormalities
in glucose and lipid metabolism). The study assessed obesity, blood pressure, blood sugar, and
triglycerides in 270 children ages 13-16 and found that those with sleep apnea were 6.5 times more
likely to have metabolic syndrome than those without sleep apnea.
Teenagers with apnea and metabolic syndrome exhibited a greater degree of blood oxygen desaturation
and more frequent sleep disturbances than those without metabolic syndrome. They also had higher
blood pressures, greater fasting insulin levels indicative of insulin resistance, and elevated levels
of low-density lipoprotein cholesterol.
The findings indicate a strong association between metabolic syndrome and sleep apnea in teenagers
and underscore the importance of screening for sleep disorders as part of regular healthy-child
checkups and as a long-term approach to cardiovascular disease prevention.
COPD May Have Origins in Infancy
Chronic obstructive pulmonary disease (COPD) is a highly prevalent condition and the fourth most common
cause of death in the United States. Cigarette smoking is the most significant risk factor for developing
COPD, but the level of lung function attained in young adulthood is also a strong predictor and researchers
have speculated that a predisposition to COPD may develop even earlier in life.
Results from the NHLBI-funded Tucson Children's Respiratory Study indicate that low lung function in
infancy is correlated with impaired lung function in young adulthood. The study enrolled newborns
between 1980 and 1984 and followed them for more than 20 years. It found that participants in the lowest
quartile of lung function at 2 months of age had persistently lower lung function values through 22 years
of age than participants in the upper three quartiles. The study also found that infants in the lowest
quartile of lung function had an increased risk of developing respiratory illnesses in the first three years
of life relative to the infants with better lung function.
These findings suggest that examination of the mechanisms of low lung function in early life might
reveal promising targets for preventive interventions. This work also offers a potentially useful
predictive measure for identifying individuals at risk for COPD who might benefit from early
preventive and therapeutic interventions.
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