RESUMO
BACKGROUND: Rheumatic heart disease (RHD) is a major cause of cardiovascular disease in developing nations, leading to more than 230,000 deaths annually. Most patients seek medical care only when long-term structural and hemodynamic complications have already occurred. Echocardiographic screenings ensure the early detection of asymptomatic subjects who could benefit from prophylaxis, monitoring and intervention, when appropriate. The aim of this study is to assess the feasibility of a screening program and the prevalence of RHD in a Ugandan orphanage. METHODS: We performed an RHD-focused echocardiogram on all the children (5-14 years old) living in a north Ugandan orphanage. Exams were performed with a portable machine (GE Vivid-I). All the time intervals were recorded (minutes). RESULTS: A total of 163 asymptomatic children were screened over 8 days (medium age 9.1; 46% male; 17% affected by severe motor impairment). The feasibility rate was 99.4%. An average of 20.4 exams were performed per day, with an average of 15.5 images collected per subject. Pathological mitral regurgitation (MR) was found in 5.5% of subjects, while at least two morphological features of RHD were found in 4.3%, leading to 1 "definite RHD" (0.6%) case and 13 "borderline RHD" cases (8.1%). Six congenital heart defects were also noted (3.7%): four atrial septal defects, one coronary artery fistula and one Patent Ductus Arteriosus. CONCLUSIONS: We demonstrated the feasibility of an echocardiographic screening for RHD in an orphanage in Uganda. A few factors, such as good clinical and hygienic care, the availability of antibiotics and closeness to a big hospital, may account for the low prevalence of the disease in our population.
RESUMO
BACKGROUND: Williams-Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS children. Data on WS patients in sub-Saharan Africa are scarce. A genetic study is usually required for a definite diagnosis, but genetic testing is often unavailable in developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis. CASE REPORT: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS. CONCLUSION: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.
RESUMO
BACKGROUND: Complications of rheumatic heart disease are associated with severe morbidity and mortality in developing countries where the disease prevalence remains high. Due to lack of screening services, many patients present late, with severe valve disease. In Uganda, the disease and its complications are still not well studied. OBJECTIVE: To profile and describe cardiovascular complications in newly diagnosed rheumatic heart disease patients attending the Mulago National Referral Hospital in Uganda. METHODS: This was a cross-sectional study where consecutive, newly diagnosed rheumatic heart disease patients were assessed and followed up for complications, such as heart failure, pulmonary hypertension, atrial fibrillation, recurrence of acute rheumatic fever, and stroke. RESULTS: A total of 309 (115 males and 196 females) definite rheumatic heart disease patients aged 15-60 years were enrolled in the study and analysed. Complications occurred in 49% (152/309) of the newly diagnosed rheumatic heart disease cases, with heart failure (46.9%) the most common complication, followed by pulmonary arterial hypertension (32.7%), atrial fibrillation (13.9%), recurrence of acute rheumatic fever (11.4%), infective endocarditis (4.5%) and stroke (1.3%). Atrial fibrillation and acute rheumatic fever were the most common complications associated with heart failure. CONCLUSION: In this study we found that about 50% of newly diagnosed rheumatic heart disease patients in Uganda presented with complications. Heart failure and pulmonary arterial hypertension were the most commonly observed complications.
