Literature DB >> 32420109

Genetics of inherited cardiomyopathies in Africa.

Gasnat Shaboodien1,2, Timothy F Spracklen1,2, Stephen Kamuli1,2, Polycarp Ndibangwi1,2, Carla Van Niekerk1,2, Ntobeko A B Ntusi1,2,3.   

Abstract

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. 2020 Cardiovascular Diagnosis and Therapy. All rights reserved.

Entities:  

Keywords:  Africa; Inherited cardiomyopathy; genetics; next generation sequencing; review

Year:  2020        PMID: 32420109      PMCID: PMC7225421          DOI: 10.21037/cdt.2019.10.03

Source DB:  PubMed          Journal:  Cardiovasc Diagn Ther        ISSN: 2223-3652


  198 in total

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Review 2.  Epidemiology and etiology of cardiomyopathy in Africa.

Authors:  Karen Sliwa; Albertino Damasceno; Bongani M Mayosi
Journal:  Circulation       Date:  2005-12-06       Impact factor: 29.690

3.  Standing at the crossroads between new and historically prevalent heart disease: effects of migration and socio-economic factors in the Heart of Soweto cohort study.

Authors:  Simon Stewart; Melinda Carrington; Sandra Pretorius; Puthuma Methusi; Karen Sliwa
Journal:  Eur Heart J       Date:  2010-12-16       Impact factor: 29.983

4.  Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

Authors:  Susanne Probst; Erwin Oechslin; Pia Schuler; Matthias Greutmann; Philipp Boyé; Walter Knirsch; Felix Berger; Ludwig Thierfelder; Rolf Jenni; Sabine Klaassen
Journal:  Circ Cardiovasc Genet       Date:  2011-05-06

5.  A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.

Authors:  Ping Ouyang; Elizabeth Saarel; Ying Bai; Chunyan Luo; Qiulun Lv; Yan Xu; Fan Wang; Chun Fan; Adel Younoszai; Qiuyun Chen; Xin Tu; Qing K Wang
Journal:  Clin Chim Acta       Date:  2010-10-04       Impact factor: 3.786

6.  Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

Authors:  Joachim P Schmitt; Mitsuhiro Kamisago; Michio Asahi; Guo Hua Li; Ferhaan Ahmad; Ulrike Mende; Evangelia G Kranias; David H MacLennan; J G Seidman; Christine E Seidman
Journal:  Science       Date:  2003-02-28       Impact factor: 47.728

7.  Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Authors:  Nawel Jaafar; Juan Gómez; Ikram Kammoun; Ihsen Zairi; Wael Ben Amara; Salem Kachboura; Sondes Kraiem; Mohamed Hammami; Sara Iglesias; Belén Alonso; Eliecer Coto
Journal:  Genet Test Mol Biomarkers       Date:  2016-08-30

8.  The pattern of cardiac diseases at the cardiac clinic of jimma university specialised hospital, South west ethiopia.

Authors:  Belete Habte; Fessahaye Alemseged; Dawit Tesfaye
Journal:  Ethiop J Health Sci       Date:  2010-07

Review 9.  Endomyocardial fibrosis: still a mystery after 60 years.

Authors:  Gene Bukhman; John Ziegler; Eldryd Parry
Journal:  PLoS Negl Trop Dis       Date:  2008-02-27

10.  Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

Authors:  James S Ware; Jian Li; Erica Mazaika; Christopher M Yasso; Tiffany DeSouza; Thomas P Cappola; Emily J Tsai; Denise Hilfiker-Kleiner; Chizuko A Kamiya; Francesco Mazzarotto; Stuart A Cook; Indrani Halder; Sanjay K Prasad; Jessica Pisarcik; Karen Hanley-Yanez; Rami Alharethi; Julie Damp; Eileen Hsich; Uri Elkayam; Richard Sheppard; Angela Kealey; Jeffrey Alexis; Gautam Ramani; Jordan Safirstein; John Boehmer; Daniel F Pauly; Ilan S Wittstein; Vinay Thohan; Mark J Zucker; Peter Liu; John Gorcsan; Dennis M McNamara; Christine E Seidman; Jonathan G Seidman; Zoltan Arany
Journal:  N Engl J Med       Date:  2016-01-06       Impact factor: 91.245

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  2 in total

1.  Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting.

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Journal:  Afr J Lab Med       Date:  2022-06-23

Review 2.  Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.

Authors:  Timothy F Spracklen; Graham Chakafana; Peter J Schwartz; Maria-Christina Kotta; Gasnat Shaboodien; Ntobeko A B Ntusi; Karen Sliwa
Journal:  Genes (Basel)       Date:  2021-01-15       Impact factor: 4.096

  2 in total

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