Rheumatic heart disease in Africa: is there a role for genetic studies? : review article

Mocumbi, Ana Olga

doi:10.5830/cvja-2015-037

Cited by 24 publications

(17 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The detection of genetic susceptibility loci through whole-genome scanning might supply a clinically beneficial genetic risk-prediction marker that will possibly permit an echocardiographic screening and the secondary prophylaxis to point to those at higher risk, thus decreasing the disease burden on the health system of this resource-strained continent [43]. When a hypothetical 2000 birth cohort analysis was done from a societal perspective, the prevention strategy in the form of genetic screening and prophylaxis for high-risk individuals decreased the number of RF patients and elevated the life span at an estimated discounted cost of $7900 per quality-adjusted life-years gained.…”

Section: Discussionmentioning

confidence: 99%

Association of ficolin-2 (FCN2) functional polymorphisms and protein levels with rheumatic fever and rheumatic heart disease: relationship with cardiac function

Elshamaa¹,

Hamza²,

Rahman³

et al. 2018

Arch Med Sci Atheroscler Dis

View full text Add to dashboard Cite

IntroductionA role for ficolin (FCN) 2 gene polymorphisms in the pathogenesis of recurrent severe streptococcal infections and rheumatic carditis has been suggested. The aim of the study was to evaluate a possible relationship between single nucleotide polymorphisms located at positions -602 and -4 of the FCN2 gene and FCN2 serum levels and risk of development of rheumatic fever (RF) and rheumatic heart disease (RHD).Material and methodsSeventy-seven Caucasian Egyptian patients with RF were recruited with a control group of 43 healthy subjects. DNA was extracted for analysis of the FCN2 gene at positions -602 and -4 and serum protein level was measured by ELISA.ResultsFCN2 AA genotype at the -4 position was more frequently observed in RF and RHD patients, as compared to healthy subjects (p = 0.005 and p = 0.013, respectively); furthermore, the A allele was identified as a possible risk factor for the development of RF (p = 0.023, OR = 1.852, 95% CI: 1.085–3.159). The haplotype –602/–4 G/A, which was associated with low median levels of L-ficolin, was observed more frequently in the RF group when compared to the healthy subjects (74/162, 48.1% vs. 29/420, 33.7%, OR = 1.834, 95% CI: 1.034–3.252, p = 0.038). Low serum ficolin-2 level was associated with ESV and EDV increases. FCN 2 level was significantly lower with AA genotypes than GG+AG genotypes of the -4 position (56.68 ±17.90 vs. 66.05 ±18.79, p = 0.008).ConclusionsPolymorphisms linked to low levels of L-ficolin may render an individual at risk of recurrent and/or severe streptococcal infection. The -4 AA genotype and -602/-4 G/A haplotype are possible risk factors for the development of carditis.

show abstract

Section: Discussionmentioning

confidence: 99%

Association of ficolin-2 (FCN2) functional polymorphisms and protein levels with rheumatic fever and rheumatic heart disease: relationship with cardiac function

Elshamaa¹,

Hamza²,

Rahman³

et al. 2018

Arch Med Sci Atheroscler Dis

View full text Add to dashboard Cite

show abstract

“…Recently, a meta-analysis of several published case-control studies showed a correlation between polymorphisms on several genes encoding for cytokines and predisposition for RHD (103–106). Studies in Europe have associated RHD to particular HLA (107–109), however, HLA results were inconsistent, and two recent genome-wide association studies (GWAS) conducted in Oceanian populations and European ancestry individuals showed no significance with the risk of developing RHD or ARF, respectively (110, 111). Interestingly, a novel susceptibility signal was identified in the immunoglobulin heavy chain (IGH) locus (110).…”

Section: A High Burden Of Disease Among Indigenous Populations In Thementioning

confidence: 99%

Health Challenges of the Pacific Region: Insights From History, Geography, Social Determinants, Genetics, and the Microbiome

et al. 2019

View full text Add to dashboard Cite

The Pacific region, also referred to as Oceania, is a geographically widespread region populated by people of diverse cultures and ethnicities. Indigenous people in the region (Melanesians, Polynesians, Micronesians, Papuans, and Indigenous Australians) are over-represented on national, regional, and global scales for the burden of infectious and non-communicable diseases. Although social and environmental factors such as poverty, education, and access to health-care are assumed to be major drivers of this disease burden, there is also developing evidence that genetic and microbiotic factors should also be considered. To date, studies investigating genetic and/or microbiotic links with vulnerabilities to infectious and non-communicable diseases have mostly focused on populations in Europe, Asia, and USA, with uncertain associations for other populations such as indigenous communities in Oceania. Recent developments in personalized medicine have shown that identifying ethnicity-linked genetic vulnerabilities can be important for medical management. Although our understanding of the impacts of the gut microbiome on health is still in the early stages, it is likely that equivalent vulnerabilities will also be identified through the interaction between gut microbiome composition and function with pathogens and the host immune system. As rapid economic, dietary, and cultural changes occur throughout Oceania it becomes increasingly important that further research is conducted within indigenous populations to address the double burden of high rates of infectious diseases and rapidly rising non-communicable diseases so that comprehensive development goals can be planned. In this article, we review the current knowledge on the impact of nutrition, genetics, and the gut microbiome on infectious diseases in indigenous people of the Pacific region.

show abstract

“…This is mainly because there is a wrong assumption that cardiovascular disease is the ailment of the rich and only the developed world. There is also a tendency to associate heart disease mainly with a sedentary lifestyle and hyper nutrition [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

Prevalence of rheumatic heart disease in a major referral cardiology clinic in Ethiopia: A retrospective cross-sectional study

et al. 2021

View full text Add to dashboard Cite

Background Rheumatic Heart Disease (RHD) remains one of the major causes of death and disability in developing countries. This preventable, treatable but not curable form of cardiovascular disease is needlessly killing scores of children and youth mainly due to the misunderstanding of the burden of the disease in these countries. We sought to describe the prevalence of RHD at one of the major referral cardiology clinics in Ethiopia. Methods This was a retrospective cross-sectional chart review of all patients referred for a cardiopathy at the Tikur Anbessa Referral Cardiac Clinic from June 2015 to August 2018. We excluded records of patients with a non-cardiac diagnosis and those without a clear diagnosis. A predesigned and tested EXCEL form was used to collect the data. The data was encoded directly from the patient record files. MATLAB’s statistics toolbox (MATLAB2019b) was used for statistical analysis. Results Among the total 7576 records analyzed 59.5% of the patients were women. 83.1% of the data belonged to adult patients with the largest concentration reported in the 18 to 27 age group. 69.7% of the patients were from urban areas. The median age of the study population was 30 (interquartile range = 21–50). 4151 cases were caused by RHD which showed that RHD constituted 54.8% of the cases. The median age for RHD patients was 25 (interquartile range = 19–34). The second most prevalent disease was hypertensive heart disease which constituted 13.6% that was followed by congenital heart disease with 9% prevalence rate. Conclusion The results of this study indicated the extent of the RHD prevalence in Ethiopia’s cardiac hospital was 54.8%. What was more critical was that almost 70% of the RHD patients were mainly the working-age group(19 to 34 years).

show abstract

Rheumatic heart disease in Africa: is there a role for genetic studies? : review article

Cited by 24 publications

References 41 publications

Association of ficolin-2 (FCN2) functional polymorphisms and protein levels with rheumatic fever and rheumatic heart disease: relationship with cardiac function

Association of ficolin-2 (FCN2) functional polymorphisms and protein levels with rheumatic fever and rheumatic heart disease: relationship with cardiac function

Health Challenges of the Pacific Region: Insights From History, Geography, Social Determinants, Genetics, and the Microbiome

Prevalence of rheumatic heart disease in a major referral cardiology clinic in Ethiopia: A retrospective cross-sectional study

Contact Info

Product

Resources

About