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Genetic Testing Improves Prognosis for Genetic Cardiomyopathy

Genetic testing that may improve the prognosis for inherited cardiomyopathy patients is now available at Nebraska Medicine. "Knowing a patient's DNA can help us map out a personalized plan for care based on the type of cardiomyopathy a person has," says Brian Lowes, MD, PhD, cardiologist at Nebraska Medicine.

The Munroe-Meyer Institute, which specializes in providing services and support for persons with intellectual, developmental and/or genetic disorders, recently developed testing that singles out the genes that are known to increase a person's risk for cardiomyopathy. The cost for genetic testing has come down considerably making it more feasible and practical for people and insurance companies.

Candidates for testing include those with heart muscle disease of unknown etiology and family members of patients with certain forms of cardiomyopathy. Many cardiomyopathies are inherited. "With this new capability, relatives, children and siblings of cardiomyopathy patients can now be identified earlier, screened for disease causing mutations, receive counseling and started on appropriate therapy sooner if desired, which may help delay the progression of the disease," says Dr. Lowes.

This is important because the natural history of heart failure is difficult to predict and not everyone responds to the same therapies, notes Dr. Lowes. "Certain mutations have a much worse prognosis than others and require more advanced heart failure therapies," he says. "If we can deliver the right therapy at the right time, we can help extend the lives of many of these patients but therapy needs to be given in a timely fashion before too much damage has been done."

"Genetic testing can help us correctly diagnose a cardiomyopathy and select the appropriate treatments. In children especially, it is better to know and deal with it than to not know and wait for something to happen."

Cardiomyopathies are complex diseases that can be life-threatening and need to be treated and managed by physicians who specialize in diseases of the heart muscle. "We offer patients a multi-disciplinary team of health care professionals with expertise in genetic testing, counseling, arrhythmias, heart surgery, transplants and advanced heart failure to provide a very experienced and comprehensive approach to their care," says Dr. Lowes, who is board certified in advanced heart failure. His research focuses on predictive molecular pathology in advanced heart failure.

Other members of the heart failure team include cardiologists Ioana Dumitru, MD, also board certified in heart failure and Eugenia Raichlin, MD, as well as advanced heart failure/transplant coordinators Kayla Carlson, RN, BSN, CCRN, Margie Chartrand, RN, BSN, CCTC, Melissa Christian, RN, BSN, CCRN and Trish Fischer, RN, BSN, CCRC-BC.

"Genetic testing continues to improve and get better," says Dr. Lowes. "In a few years, I expect the cost will continue to drop considerably and targeted testing to become more common."