Genetics of inherited cardiomyopathies in Africa

Shaboodien, Gasnat; Spracklen, Timothy; Kamuli, Stephen; Ndibangwi, Polycarp; Niekerk, Carla Van; Ntusi, Ntobeko

doi:10.21037/cdt.2019.10.03

Cited by 7 publications

(6 citation statements)

References 180 publications

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“…Correlating genetic information with phenotypic presentation and disease outcome could have profound implications on patient management and should be explored further. This is particularly true in African populations, where the risk of PPCM is higher [ 4 , 84 ], the prognosis is poorer [ 85 ], and the knowledge of cardiomyopathy genetics is scarce [ 86 ]. PPCM has a broader aetiology than other forms of heritable cardiomyopathy, and further research is needed into the role of additional genes such as those involved in (auto)immunity, angiogenesis, metabolism, and oxidative stress.…”

Section: Discussionmentioning

confidence: 99%

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

Spracklen

Chakafana

Schwartz

et al. 2021

Genes

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Peripartum cardiomyopathy (PPCM) is a condition in which heart failure and systolic dysfunction occur late in pregnancy or within months following delivery. Over the last decade, genetic advances in heritable cardiomyopathy have provided new insights into the role of genetics in PPCM. In this review, we summarise current knowledge of the genetics of PPCM and potential avenues for further research, including the role of molecular chaperone mutations in PPCM. Evidence supporting a genetic basis for PPCM has emanated from observations of familial disease, overlap with familial dilated cardiomyopathy, and sequencing studies of PPCM cohorts. Approximately 20% of PPCM patients screened for cardiomyopathy genes have an identified pathogenic mutation, with TTN truncations most commonly implicated. As a stress-associated condition, PPCM may be modulated by molecular chaperones such as heat shock proteins (Hsps). Recent studies have led to the identification of Hsp mutations in a PPCM model, suggesting that variation in these stress-response genes may contribute to PPCM pathogenesis. Although some Hsp genes have been implicated in dilated cardiomyopathy, their roles in PPCM remain to be determined. Additional areas of future investigation may include the delineation of genotype-phenotype correlations and the screening of newly-identified cardiomyopathy genes for their roles in PPCM. Nevertheless, these findings suggest that the construction of a family history may be advised in the management of PPCM and that genetic testing should be considered. A better understanding of the genetics of PPCM holds the potential to improve treatment, prognosis, and family management.

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Section: Discussionmentioning

confidence: 99%

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

Spracklen

Chakafana

Schwartz

et al. 2021

Genes

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“…For example, in a review by Shaboodien et al the authors looked for all studies discussing the genetics of inherited cardiomyopathies in Africa and only found four studies on ACM, one on RCM, and none on LVNC. 75 Furthermore, racial disparities may not solely originate from pathogenic mutations themselves but extend to the clinical expression of the disease, influenced by both intrinsic (biological) and extrinsic factors, such as disparities in socioeconomic status or discriminatory practices within health care systems, as previously elucidated. 76 77 Unfortunately, many patients do not receive genetic testing and would not receive genetic-specific management.…”

Section: Exploring Disparities In Cardiomyopathy From Clinical Practi...mentioning

confidence: 99%

Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives

Huang,

Verma,

Mok

et al. 2024

Glob Med Genet

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Background Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant mortality, requiring robust risk stratification with genetic testing and early diagnosis. Hypothesis We hypothesized that health care disparities exist in genetic testing for hereditary cardiomyopathies within clinical practice and research studies. Methods In a narrative fashion, we conducted a literature search with online databases such as PubMed/MEDLINE, Google Scholar, EMBASE, and Science Direct on papers related to hereditary cardiomyopathies. A comprehensive analysis of findings from articles in English on disparities in diagnostics and treatment was grouped into four categories. Results Racial and ethnic disparities in research study enrollment and health care delivery favor White populations and higher socioeconomic status, resulting in differences in the development and implementation of effective genetic screening. Such disparities have shown to be detrimental, as minorities often suffer from disease progression to heart failure and sudden cardiac death. Barriers related to clinical genetic testing included insurance-related issues and health illiteracy. The underrepresentation of minority populations extends to research methodologies, as testing in ethnic minorities resulted in a significantly lower detection rate and diagnostic yield, as well as a higher likelihood of misclassification of variants. Conclusions Prioritizing minority-based participatory research programs and screening protocols can address systemic disparities. Diversifying research studies can improve risk stratification strategies and impact clinical practice.

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“…Nevertheless, in SSA studies on genetics of cardiomyopathies, including DCM is limited to southern region specifically South Africa, while in other parts of SSA its diagnosis is based on laboratory findings and imaging techniques with limited access [32,33]. Shaboodien et al, in a review on genetics of inherited cardiomyopathies in Africa, identified only nine studies in DCM, of which seven were conducted in South Africa, while the other two were from Tunisia and Egypt [34]. A study done in South Africa by Ntusi et al, which looked into clinical characteristics and outcomes of familial and idiopathic DCM in 109 patients, noted that the majority of the study population were young, with male predominance, and clinicaly presented with HF by New York Heart Association(NYHA) class III-IV [35].…”

Section: Idiopathic Dcm In Hf Patients In Ssamentioning

confidence: 99%

Risk Factors and Prevalence of Dilated Cardiomyopathy in Sub-Saharan Africa: A Systematic Review

Fundikira

Chillo

Mutagaywa

et al. 2022

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Genetics of inherited cardiomyopathies in Africa

Cited by 7 publications

References 180 publications

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives

Risk Factors and Prevalence of Dilated Cardiomyopathy in Sub-Saharan Africa: A Systematic Review

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