Genetics of inherited cardiomyopathies in Africa.

Autor:	Shaboodien G; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Spracklen TF; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Kamuli S; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Ndibangwi P; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Van Niekerk C; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Ntusi NAB; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Cape Universities Body Imaging Centre, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Jazyk:	angličtina
Zdroj:	Cardiovascular diagnosis and therapy [Cardiovasc Diagn Ther] 2020 Apr; Vol. 10 (2), pp. 262-278.
DOI:	10.21037/cdt.2019.10.03
Abstrakt:	In sub-Saharan Africa (SSA), the burden of noncommunicable diseases (NCDs) is rising disproportionately in comparison to the rest of the world, affecting urban, semi-urban and rural dwellers alike. NCDs are predicted to surpass infections like human immunodeficiency virus, tuberculosis and malaria as the leading cause of mortality in SSA over the next decade. Heart failure (HF) is the dominant form of cardiovascular disease (CVD), and a leading cause of NCD in SSA. The main causes of HF in SSA are hypertension, cardiomyopathies, rheumatic heart disease, pericardial disease, and to a lesser extent, coronary heart disease. Of these, the cardiomyopathies deserve greater attention because of the relatively poor understanding of mechanisms of disease, poor outcomes and the disproportionate impact they have on young, economically active individuals. Morphofunctionally, cardiomyopathies are classified as dilated, hypertrophic, restrictive and arrhythmogenic; regardless of classification, at least half of these are inherited forms of CVD. In this review, we summarise all studies that have investigated the incidence of cardiomyopathy across Africa, with a focus on the inherited cardiomyopathies. We also review data on the molecular genetic underpinnings of cardiomyopathy in Africa, where there is a striking lack of studies reporting on the genetics of cardiomyopathy. We highlight the impact that genetic testing, through candidate gene screening, association studies and next generation sequencing technologies such as whole exome sequencing and targeted resequencing has had on the understanding of cardiomyopathy in Africa. Finally, we emphasise the need for future studies to fill large gaps in our knowledge in relation to the genetics of inherited cardiomyopathies in Africa. Competing Interests: Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/cdt.2019.10.03). The series “Cardiovascular Diseases in Low-and Middle-Income Countries” was commissioned by the editorial office without any funding or sponsorship. NABN served as the unpaid Guest Editor of the series, and acknowledges funding from the South African Medical Research Council, National Research Foundation, the Harry Crossley Foundation and the Lily and Ernst Hausmann Trust. The authors have no other conflicts of interest to declare. (2020 Cardiovascular Diagnosis and Therapy. All rights reserved.)
Databáze:	MEDLINE
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