Leanne Woiewodski of Lower Burrell is lead author of journal case report

2017 Mar 9

Leanne Woiewodski of Lower Burrell, a second-year medical student at Geisinger Commonwealth School of Medicine, was the lead author of a case report published in the Journal of Pediatrics. The report was entitled "Barth Syndrome with Late Onset Cardiomyopathy: A Missed Opportunity for Diagnosis."

Barth syndrome (BTHS) is an X-linked genetic condition. Though not always present, cardinal characteristics of this multi-system disorder often include combinations and varying degrees of cardiomyopathy (weak heart muscle usually associated with an enlarged heart); neutropenia (an abnormally low level of neutrophils, a common type of white blood cell important to fighting off infection); underdeveloped skeletal musculature and muscle weakness; and growth delay, among other symptoms.

The report authored by Ms. Woiewodski discussed the case of a male infant who presented with neutropenia, growth delay, and death of a maternal uncle at age two - "cardinal characteristics" of Barth syndrome.

"Despite extensive evaluation over 10 years," she wrote, "Barth syndrome was not diagnosed until he presented in acute heart failure. Although late-onset cardiomyopathy is rare, persistence of common Barth features should have enabled earlier diagnosis."

The article can be found in the Jan. 18 edition of the Journal of Pediatrics. Ms. Woiewodski's work was completed under the supervision of pediatric cardiologist, Brian David Feingold, MD. Dr. Feingold is medical director of the Heart Failure and Heart Transplant Programs at University of Pittsburgh School of Medicine and an associate professor at the school.