Do rates of arthritis and chorea predict the incidence of acute rheumatic fever?

BACKGROUND: Acute rheumatic fever (ARF), a major cause of acquired heart disease worldwide, remains a significant public health problem. However, the precise incidence of ARF in Africa, where a large number of cases occur, remains unknown. We hypothesize that focused attention on non-cardiac features of ARF, namely joint manifestations and chorea, might enhance its detection in settings with limited resources. METHODS: This hypothesis was tested by reviewing the medical records at Vanderbilt Children's Hospital from 1998 to 2008. In addition, an extensive literature review of published studies was performed to assess rates of joint findings or chorea in confirmed cases of ARF. RESULTS: Fifty-nine new cases of ARF were diagnosed in children at Vanderbilt from 1998 to 2008. Of these cases, 91% presented with joint manifestations or chorea, and 80% satisfied major Jones criteria findings of polyarthritis or chorea. These findings are consistent with literature published from our region and internationally. CONCLUSIONS: Most patients presenting with ARF have either joint symptoms or chorea, features that could be recognized by community health workers and individuals with limited medical training. The referral of patients presenting with these manifestations for further evaluation might improve detection rates of ARF in resource-limited countries and lead to improved estimates of disease burden.

Spontaneous rupture of atrioventricular valve tensor apparatus as late manifestation of anti-Ro/SSA antibody-mediated cardiac disease.

Atrioventricular (AV) block and endocardial fibroelastosis associated with dilated cardiomyopathy are the most common clinical manifestations of anti-Ro/SSA-mediated fetal cardiac disease. Valvar dysfunction has not been a prominent feature of this disease; however, recent anecdotal cases have suggested an association between rupture of the AV valve tensor apparatus and maternal anti-Ro/SSA antibodies. In the present study, we have described the clinical and laboratory findings and reviewed the published data for infants of anti-Ro/SSA-positive pregnancies with AV valve insufficiency due to chordal rupture from the papillary muscles. The histopathologic features of the papillary muscle and ventricular free wall and septum biopsy specimens were examined and compared to the sections of AV leaflets from 6 autopsied fetuses with anti-Ro/SSA-mediated complete AV block without chordal disruption. Specific epitopes to the p200 region of Ro52, and Ro60 antibodies were evaluated in cases with chordal rupture. Severe AV valve insufficiency was detected prenatally (as early as 34 weeks of gestation) or postnatally (as late as 182 days) after areas of patchy echogenicity were noted in the papillary muscle at 19 to 22 weeks of gestation. Postnatally, urgent valve surgery was performed in 5 of 6 patients; 1 of 6 patients died preoperatively. All patients tested positive for Ro52. Valve leaflet tissue from the autopsy specimens was normal. The ventricular free wall and septum biopsy specimens from a patient with chordal rupture showed normal tissue; however, the papillary muscle biopsy specimens demonstrated severe atrophy with near total replacement of myocytes by fibrosis and dystrophic calcifications, and negative immunochemistry findings. In conclusion, these findings have defined an underappreciated complication of fetal antibody-mediated cardiac inflammation.

Thromboses in the native aorta in patients with hypoplastic left heart syndrome.

We present four children with hypoplastic left heart syndrome (HLHS) and development of thrombus in the native aortic root. There are only two previously reported cases in the literature. In all four of our patients, thrombus was noted on transthoracic echocardiography. In one patient, surgical thrombectomy was performed, with subsequent deterioration and death. Thrombolysis was used in one patient, with suspected embolic events following his treatment. In the remaining two patients, medical management with chronic anticoagulation was successful in reducing the size of the thrombus.

Report of the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease.

A member of the Tennessee state legislature recently proposed a bill that would mandate all newborn infants to undergo pulse oximetry screening for the purpose of identifying those with critical structural heart disease before discharge home. The Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Defects was convened on September 29, 2005. This group reviewed the current medical literature on this topic, as well as data obtained from the Tennessee Department of Health, and debated the merits and potential detriments of a statewide screening program. The estimated incidence of critical congenital heart disease is 170 in 100,000 live births, and of those, 60 in 100,000 infants have ductal-dependent left-sided obstructive lesions with the potential of presentation by shock or death if the diagnosis is missed. Of the latter group, the diagnosis is missed in approximately 9 in 100,000 by fetal ultrasound assessment and discharge examination and might be identified by a screening program. Identification of the missed diagnosis in these infants before discharge could spare many of them death or neurologic sequelae. Four major studies using pulse oximetry screening were analyzed, and when data were restricted to critical left-sided obstructive lesions, sensitivity values of 0% to 50% and false-positive rates of between 0.01% and 12% were found in asymptomatic populations. Because of this variability and other considerations, a meaningful cost/benefit analysis could not be performed. It was the consensus of the task force to provide a recommendation to the legislature that mandatory screening not be implemented at this time. In addition, we determined that a very large, prospective, perhaps multistate study is needed to define the sensitivity and false-positive rates of lower-limb pulse oximetry screening in the asymptomatic newborn population and that there needs to be continued partnering between the medical community, parents, and local, state, and national governments in decisions regarding mandated medical care.