Congenital Heart Disease
In 2003, scientists completed the 13-year process of mapping the first human genome. Available today is a human genome processor with a cloud-based platform that reduces sequencing analysis time from 26 minutes to nearly real time.
“The pace at which fundamental discoveries of basic science are being uncovered is accelerating, as is the speed at which medical practice is being transformed by these inventions,” physician and health policy analyst Dr. Scott Gottlieb wrote in a June 2015 Forbes magazine essay.
Transformational treatments for children born with heart defects is what led Lutheran Medical Group cardiologist Dr. Sabeena Ramrakhiani to seek a new subspecialty. In 2016, she became the first cardiologist in the region and among the first in the nation to earn board certification in adult congenital heart disease (CHD).
About one in every 110 U.S. babies is born with CHD. In 75 percent of them, the conditions will not require surgical intervention, at least not within the first year. For the other 25 percent, their complex CHD requires surgery or other interventions shortly after or within months of birth; multiple surgeries are often needed, yet their outlook has greatly improved from 50 years ago, when only about 15 percent of such children lived to adulthood.
“The corrective surgeries have evolved…we are getting those babies to their 40s and their 50s,” Ramrakhiani says, noting pediatric heart surgery advanced significantly with infant cardiac pulmonary bypass in the mid-1970s. About 20,000 individuals with CHD are entering adulthood each year; an increasing number now need specialized care.
“They need medications for heart failure or treatment for pulmonary hypertension,” she says. Others have arrhythmic events from the early-age surgery such as scar tissue affecting the heart’s electrical system. The normal aging process brings additional challenges. A baby born with a hole in the heart or an abnormal valve may not have required surgery at birth but has increased risk of stroke or atrial fibrillation later on.
Despite new discoveries and accelerated research, much is still unknown, particularly about the brain. Diagnosis of Alzheimer’s, for example, is still not 100 percent definitive until the brain is examined post-mortem, says neuropsychologist Dr. Paula Neuman with Parkview Physicians Group. The presence of abnormal clusters of a protein called beta-amyloid and tangles, which are twisted fibers of a protein called tau, are among the knowns.
“They’ve narrowed down some genes that put people at risk for Alzheimer’s,” Neuman says, but it remains a puzzle why some with those genetic markers will never develop symptoms. A blood test can identify who has the genetic markers but cannot predict who will or will not develop Alzheimer’s.
“There’s additional research looking at cholinergic markers in neurons,” Neuman says. Cholinergic neurons use the neurotransmitter acetylcholine. Loss of these neurons in the brain is associated with Alzheimer’s, but Neuman says, “We really don’t fully understand how that cholinergic system is working in the Alzheimer’s process.” No cure to date exists, but “medications can help slow or delay the progress or prevent the symptoms from becoming worse for a limited period of time.”
Prevention of Alzheimer’s remains elusive, though researchers have identified at least one gene that appears to have a protective role. Staying physically and mentally active is important. Neuman says, “Our brain loves movement. Eat a healthy diet, avoiding high fat, high carb foods. Keep blood pressure and diabetes under control.”
Like Alzheimer’s, much about autism remains a mystery. The good news is that diagnosis is occurring much earlier, says Lutheran Medical Group pediatrician Dr. Heather Wolfe. One of every 68 children is on the autism spectrum, reflecting a 30 percent increase in rate of diagnosis within the last five years.
The increase is likely because of greater attention to early signs as well as a rise in precipitating factors. Research points to a genetic link. Autism is likely a perfect example of an epigenetic condition, Wolfe says, meaning a genetic abnormality is modified by environmental factors. The latter is the big unknown.
“The average age of diagnosis is 4, but the goal is to get (children) diagnosed by age 2,” Wolfe says. Physicians used to test only if symptoms such as lack of eye contact, sensory issues, language delays and repetitive behaviors were noted. Early, ongoing developmental screening is now recommended. “The earlier the diagnosis, the earlier the intervention.”
Applied behavioral therapy (ABA) is a very effective treatment, Wolfe says, advising, “It has to be one-on-one and can be 20 to 40 hours a week.” Intensity early on is crucial because “the brain still has modeling going on until age 3.”