Her husband and their five children call Rosa Wernher "the Energizer bunny" because she is always on the go. For decades, not even her genetically inherited Marfan syndrome could keep her off her feet to prevent her from oil painting or from gliding down a ski slope--until it did.
"I have always been active, almost manic--jumping from one activity to another, chasing my children around to their various activities and never requiring a great deal of sleep," said Wernher, 53, who lives in Redlands, California. "But as I aged, I started quietly slowing down, needing to rest and sleep just a bit more than usual. I chalked it up to perimenopause, never attributing the new-onset symptoms to my genetic heart condition."
Shortly after she turned 51, Wernher decided it was time to check up on her heart. She was referred to Robert Siegel, MD, a Marfan syndrome expert and cardiologist in the Smidt Heart Institute at Cedars-Sinai.
After a routine exam and ultrasound imaging of her heart, Siegel discovered that Wernher had an enlarged aorta and a leaking aortic valve. These common complications of Marfan syndrome, which causes abnormalities in connective tissue, can become a life-threatening emergency.
The aorta, which rises from the heart's left ventricle--the major chamber that pumps blood out of the heart--is filled with oxygen-rich blood that travels throughout the body. If a tear occurs, blood spills through the inner layer tear and into the middle layers of the aorta, causing them to separate, or dissect. When that happens, it can deprive the body's organs of vital blood supply.
"I was told to see a cardiac surgeon, and fast," said Wernher. "It was really scary to learn that despite my overall good health and energy, I had been a walking time bomb."
Siegel sent Wernher to see Pedro Catarino, MD, director of Aortic Surgery in the Smidt Heart Institute, who confirmed that she had a large aortic root aneurysm and severe aortic valve regurgitation.
A tear or rupture in the aorta is a surgical emergency. We do everything we can to avoid patients presenting in this progressive, severe way, and instead, treat them before a life-threatening complication occurs. Rosa was fortunate that her enlarged aorta had not yet reached this critical, life-threatening point."
Pedro Catarino, Director, Aortic Surgery, Smidt Heart Institute
A national leader in aortic surgery, the Smidt Heart Institute recently became an accredited Marfan Center of Excellence, a distinction given by the Marfan Foundation. As one of only 35 accredited medical centers in the nation, the Cedars-Sinai program utilizes a multidisciplinary team of cardiac and vascular surgeons, cardiologists, and radiologists who use advanced imaging techniques to predict patient risk and identify the best surgical options.
The medical consensus for Wernher: She was a candidate for a technically complex surgery called a valve-sparing aortic root replacement.
"During Rosa's surgery, we kept her aortic valve and reconnected it to a new section of aortic tissue," said Catarino. "This specialized technique isn't offered everywhere, and it really requires a team of experts who can deliver it."
Wernher's four-hour surgery was a success. Although it was challenging for her energetic self to lie low after surgery, she gained more zest within six weeks. Now, nearly eight months after surgery, Wernher has already skied Mammoth Mountain and is back to standing on her feet for hours, painting nature scenes of flowers and landscapes.
She's also more committed than ever to staying on top of her health.
"With my kids now grown and out of the house, I'm more vigilant about my own health and wellbeing," said Wernher. "I'm even trying to relax and slow down a bit and offering myself grace for these changing phases of life. I'm just grateful to be alive."
Genetic study uncovers key drivers of metabolic syndrome with brain tissue links