title: Autosomal dominant myocardial disease diagnosed by fetal presentation of proband with an aneurysm of the muscular interventricular septum.
abstract: We describe an inherited form of a disorder in which four patients spanning three generations were affected with congenital myocardial disease. The youngest member of the family, diagnosed as a fetus with a large aneurysm of the muscular interventricular septum, demonstrates an antenatal pathogenic process. Study of the specific findings in each patient suggests that congenital aneurysms of the muscular interventricular septum may be in some way associated with specific developmental pathways of the heart. We believe that screening family members of patients with muscular interventricular septal aneurysms may be indicated to assess for silent myocardial disease.
authors.affiliation: Department of Pediatrics, Division of Pediatric Cardiology, The Medical College of Virginia Hospitals of the Virginia Commonwealth University, Richmond 23298, USA.
authors.forename: M T
authors.initials: MT
authors.lastname: Donofrio
authors.forename: D R
authors.initials: DR
authors.lastname: Allen
authors.forename: M
authors.initials: M
authors.lastname: Tekin
authors.forename: J
authors.initials: J
authors.lastname: Bodurtha
mesh_terms: D000328:Adult; D006328:Cardiac Catheterization; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006322:Heart Aneurysm / Q000151:congenital* / Q000000981:diagnostic imaging; D006346:Heart Septum; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D016216:Ultrasonography, Prenatal