Anatomical and pathological findings in hearts from fetuses and infants with cardiac manifestations of neonatal lupus

Department of Medicine, Division of Rheumatology, New York University School of Medicine, New York, NY, USA.
Rheumatology (Oxford, England) (Impact Factor: 4.48). 02/2012; 51(6):1086-92. DOI: 10.1093/rheumatology/ker515
Source: PubMed


The autopsy and clinical information on children dying with anti-SSA/Ro-associated cardiac manifestations of neonatal lupus (cardiac NL) were examined to identify patterns of disease, gain insight into pathogenesis and enhance the search for biomarkers and preventive therapies.
A retrospective analysis evaluating reports from 18 autopsies of cardiac NL cases and clinical data from the Research Registry for Neonatal Lupus was performed.
Of the 18 cases with autopsies, 15 had advanced heart block, including 3 who died in the second trimester, 9 in the third trimester and 3 post-natally. Three others died of cardiomyopathy without advanced block, including two dying pre-natally and one after birth. Pathological findings included fibrosis/calcification of the atrioventricular (AV) node, sinoatrial (SA) node and bundle of His, endocardial fibroelastosis (EFE), papillary muscle fibrosis, valvular disease, calcification of the atrial septum and mononuclear pancarditis. There was no association of pathology with the timing of death except that in the third-trimester deaths more valvular disease and/or extensive conduction system abnormalities were observed. Clinical rhythm did not always correlate with pathology of the conduction system, and the pre-mortem echocardiograms did not consistently detect the extent of pathology.
Fibrosis of the AV node/distal conduction system is the most characteristic histopathological finding. Fibrosis of the SA node and bundle of His, EFE and valve damage are also part of the anti-Ro spectrum of injury. Discordance between echocardiograms and pathology findings should prompt the search for more sensitive methods to accurately study the phenotype of antibody damage.

Download full-text


Available from: Marc K Halushka, Oct 02, 2015
15 Reads
  • Source
    • "In this context postmortem histologic analysis of children dying from anti-Ro-mediated cardiac damage has confirmed fibrosis of the sinoatrial node and bundle of His as the most notable findings.2 However, endocardial fibroelastosis (EFE), papillary muscle fibrosis, valvular disease, calcification of the atrial septum, and mononuclear pancarditis were also evident in a significant proportion.2 There are few reports on anti-RNP antibodies and fewer still on anti-Sm antibodies in the context of fetal cardiac damage. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by neuromuscular hypotonia and feeding difficulties was evident shortly after birth in the second child of a mother with systemic lupus erythematosus who had no indication of gestational diabetes. High-level anti-ribonucleoprotein (RNP) and Smoth (Sm) antibodies arising from transplacental transfer of maternal antibodies were detected in the child's serum. The cardiac abnormalities improved with a commensurate decline in antibody titers. Previously reported cases of neonatal cardiomyopathy with endocardial fibroelastosis have been ascribed to the transplacental transfer of maternal Sjogrens Syndrome (SS) A (Ro) and Sjogrens Syndrome (SS) B (La) antibodies and have been more severe and persistent compared with our patient. We advocate close monitoring of all babies of mothers with systemic autoimmunity for changes in heart rate during pregnancy and signs of heart failure and neuromuscular weakness after delivery.
    AJP Reports 10/2013; 3(2):91-6. DOI:10.1055/s-0033-1344003
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Brazil and Colombia have pursued extensive reforms of their health care systems in the last couple of decades. The purported goals of such reforms were to improve access, increase efficiency and reduce health inequities. Notwithstanding their common goals, each country sought a very different pathway to achieve them. While Brazil attempted to reestablish a greater level of State control through a public national health system, Colombia embraced market competition under an employer-based social insurance scheme. This work thus aims to shed some light onto why they pursued divergent strategies and what that has meant in terms of health outcomes. A critical review of the literature concerning equity frameworks, as well as the health care reforms in Brazil and Colombia was conducted. Then, the shortfall inequality values of crude mortality rate, infant mortality rate, under-five mortality rate, and life expectancy for the period 1960-2005 were calculated for both countries. Subsequently, bivariate and multivariate linear regression analyses were performed and controlled for possibly confounding factors. When controlling for the underlying historical time trend, both countries appear to have experienced a deceleration of the pace of improvements in the years following the reforms, for all the variables analyzed. In the case of Colombia, some of the previous gains in under-five mortality rate and crude mortality rate were, in fact, reversed. Neither reform seems to have had a decisive positive impact on the health outcomes analyzed for the defined time period of this research. This, in turn, may be a consequence of both internal characteristics of the respective reforms and external factors beyond the direct control of health reformers. Among the internal characteristics: underfunding, unbridled decentralization and inequitable access to care seem to have been the main constraints. Conversely, international economic adversities, high levels of rural and urban violence, along with entrenched income inequalities seem to have accounted for the highest burden among external factors.
    International Journal for Equity in Health 02/2012; 11:6. DOI:10.1186/1475-9276-11-6 · 1.71 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Purpose of review: The present article aims to review recent literature about intracardiac echogenic foci (ICEFs), with special emphasis in potential causes, relationships with aneuploidy and cardiac function. Recent findings: The presence of an ICEF may be considered as a soft marker that may be of interest only in high-risk populations for chromosomal abnormalities. In cases of isolated ICEF in euploid fetuses there is not evidence of an altered cardiac function and a detailed echocardiogram is not recommended as long as the second trimester scan is normal. Cases of fetal myocardial diffuse or multiple calcifications may be related to inflammatory and hypoxic changes in fetal heart, but the relationships between these conditions and isolated ICEF remain unclear. Summary: The origin of ICEF remains unclear. It is considered a normal developmental variant, but either inflammatory or hypoxic processes could be involved in its appearance. In low-risk populations for aneuploidy, the presence of an ICEF is not an indication for invasive procedures. In high-risk populations this depends on the previous calculated risk. In euploid fetuses, cardiac function is not significantly altered but further studies in specific populations may be justified. Fetuses with diffuse myocardial calcification or multiple foci may need further investigations.
    Current opinion in obstetrics & gynecology 01/2013; 25(2). DOI:10.1097/GCO.0b013e32835e14eb · 2.07 Impact Factor
Show more