3 A novel molecular approach to the diagnosis of dilated cardiomyopathy

Abstract

A NOVEL MOLECULAR APPROACH TO THE DIAGNOSIS OF DILATED CARDIOMYOPATHY Jeffrey A. Towhin, M.D., F.A.A.P.,Department of Pediatrics,Baylor College of Medicine,Honston,TX Dilated cardiomyopathy @CM), a leading canse of mortality and morbidity in childhood, is typically diagnosed after symptomatic presentation using echocardiography, cardiac catheterization and right ventricular endomyocardial biopsy. Most commonly, however, the etiology remains elusive, consistent with idiopathic dilated cardiomyopathy @DC). The purpose of this study was to develop a molecular genetic approach to the diagnosis of patients with IDC. Using polymerase chain reaction @‘CR) of nucleic acid from heart and blood, 20 patients with IDC were analyzed for infections agents within the heart and gene mutations of cardiac proteins. Multiplex PCR using 14 primer pairs was used to evaluate patients for dystrophin gene deletions while myocarditis (chronic and acute) was studied using a three primer pair multiplex PCR and single primer pair FCR for enteroviral, adenovlral, cytomegalovlral (CMV), and herpes simplex virus (HSV) genome. Three children and two fetuses were diagnosed with acute myocarditis (3 adenovirus, 1 CMV, 1 enterovirns), four children had DCM, probably due to chronic viral infection (1 adenovhus, 2 HSV, 1 enterovirus), and 2 children had dystrophin mutations. CONCLUSION: A PCR panel can allow for diagnosis of DCM etiology in patients labeled as IDC, rendering the etiology in 11/20 selected cases (55%) here.