Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis

• Published in: Circulation (New York, N.Y.) Vol. 105; no. 7; pp. 843 - 848
• Main Authors: NIELD, Lynne E, SILVERMAN, Earl D, HAMILTON, Robert M, HORNBERGER, Lisa K, TAYLOR, Glenn P, SMALLHORN, Jeffrey F, MULLEN, J. Brendan M, SILVERMAN, Norman H, FINLEY, John P, LAW, Yuk M, HUMAN, Derek G, SEAWARD, P. Gareth
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 19.02.2002; American Heart Association, Inc
• Subjects: Adult; Autoantibodies - immunology; Autoantigens - immunology; Biological and medical sciences; Cardiac Pacing, Artificial; Cardiology. Vascular system; Cohort Studies; Echocardiography; Endocardial and cardiac valvular diseases; Endocardial Fibroelastosis - complications; Endocardial Fibroelastosis - diagnosis; Endocardial Fibroelastosis - immunology; Endocardial Fibroelastosis - mortality; Female; Fetus; Heart; Heart Block - complications; Heart Block - diagnosis; Heart Block - immunology; Heart Block - therapy; Humans; Hydrops Fetalis - complications; Hydrops Fetalis - diagnosis; Hydrops Fetalis - mortality; Immunohistochemistry; Infant; Infant, Newborn; Male; Medical sciences; Mothers; Pregnancy; Retrospective Studies; Ribonucleoproteins - immunology; RNA, Small Cytoplasmic; SS-B Antigen; Ultrasonography, Prenatal; Ventricular Dysfunction - complications; Ventricular Dysfunction - diagnosis; Ventricular Dysfunction - immunology; Human; Immunohistochemistry; Arrhythmia; Antibody; Pathogenesis; Autoantibody; Endocardium; Cardiovascular disease; Conduction disorder; Fibroelastosis; Pathology; Heart disease; Heart block; Endocardial disease
• ISSN: 0009-7322; 1524-4539
• DOI: 10.1161/hc0702.104182

Maternal anti-Ro and anti-La antibodies are associated with congenital heart block (CHB). Although endocardial fibroelastosis (EFE) has been described in isolated cases of autoantibody-mediated CHB, the natural history and pathogenesis of this disease are poorly understood. We retrospectively reviewed the clinical history, echocardiography, and pathology of fetuses and children with EFE associated with CHB born to mothers positive for anti-Ro or anti-La antibodies at 5 centers. Thirteen patients were identified, 6 with a prenatal and 7 with a postnatal diagnosis. Six mothers were positive for anti-Ro and anti-La antibodies, and 7 were positive for anti-Ro antibodies only. Only 1 mother had autoimmune disease. Severe ventricular dysfunction was seen in all fetal and postnatal cases. Four fetal and 3 postnatal cases had EFE at initial presentation. However, 2 fetal and 4 postnatal cases developed EFE 6 to 12 weeks and 7 months to 5 years from CHB diagnosis, respectively, even despite ventricular pacing in 6 postnatal cases. Eleven (85%) either died (n=9) or underwent cardiac transplantation (n=2) secondary to the EFE. Pathologic assessment of the explanted heart, available in 10 cases, revealed moderate to severe EFE in 7 and mild EFE in 3 cases, predominantly involving the left ventricle. Immunohistochemistry in 4 cases (including 3 fetuses) demonstrated deposition of IgG in 4 and IgM in 3 and T-cell infiltrates in 3 cases, suggesting an immune response by the affected fetus or child. EFE occurs in the presence of autoantibody-mediated CHB despite adequate ventricular pacing. Autoantibody-associated EFE has a very high mortality rate, whether developing in fetal or postnatal life.