Clinic Seeks Genetic Causes of Pediatric Cardiomyopathy
Recognizing the difficulty and the importance of diagnosing and managing cardiomyopathy in children, Cincinnati Children’s Hospital Medical Center has opened a new Diagnostic Cardiomyopathy Clinic, part of the newly named Heart Institute.
Pediatric cardiologists, a clinical geneticist and a genetic counselor provide outpatient and inpatient consultative care for all forms of pediatric cardiomyopathy including hypertrophic dilated or restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy and left ventricular noncompaction.
Co-directed by Stephanie Ware, MD, PhD and Robert Spicer, MD, the team evaluates children with complex forms of heart muscle disease associated with genetic syndromes, inborn errors of metabolism or mitochondrial disorders. Personal and family history are obtained and the family is counseled regarding possible underlying genetic basis of the heart muscle disease and associated inheritance patterns. In addition to a thorough clinical assessment, patients may be screened utilizing ultrasonography and magnetic resonance. For selected patients, metabolic and molecular genetic testing can be utilized.
Genetic testing for pediatric cardiomyopathy has only recently become available through clinical laboratories. While more than 11 genes have been linked to cardiomyopathy within the past three years, many questions still remain. “In pediatric cardiomyopathy, we lack some fundamental knowledge about the genetic basis of disease,” Dr. Ware says.
In addition to clinical care provided through the Diagnostic Cardiomyopathy Clinic, Dr. Ware is helping to advance the field further through her research laboratory. With the help of a next-generation high throughput gene sequencer, Dr. Ware and her team are working to analyze enormous amounts of DNA from small samples of blood. Dr. Ware, who has research appointments in the Division of Molecular Cardiovascular Biology and the Division of Human Genetics, hopes it will provide answers to questions that have been perplexing doctors for years.
Dr. Ware and her team will focus on genes responsible for energy production, heart muscle contraction and the structure of the heart muscle cell. Ultimately, their goal is to find better treatments to take back to the clinic.
“We’re at a very basic level of fact finding,” says Dr. Ware. “We can’t do much from a management or therapy standpoint until we understand the actual causes. I think really exciting research will happen after we get past this first phase.”
The Diagnostic Cardiomyopathy Clinic is held the first Thursday of every month. To refer a patient, please call 513-636-4432.
About the Heart Institute
Cincinnati Children's Heart Institute integrates clinical care and research to speed the exchange of information from bench to bedside. Read more.
