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Browsing by Author "Shaboodien, Gasnat"

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Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy

Author: Fish, Maryam Date: 2010 It has been shown that all forms of cardiomyopathy, including the dilated, hypertrophic, restrictive, and right ventricular arrhythmogenic forms, are found in African populations. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a ... Read more
Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy

Author: Fish, Maryam Date: 2016 Cardiomyopathy accounts for 20-30% of acute heart failure cases in adult Africans. Several types of cardiomyopathy have been identified; this study focused primarily on the genetic causes of arrhythmogenic right ventricular cardiomyopathy ... Read more
Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications

Author: Spracklen, Timothy F ; Chakafana, Graham ; Schwartz, Peter J ; Kotta, Maria-Christina ; Shaboodien, Gasnat ; Ntusi, Ntobeko A B ; Sliwa, Karen Date: 15 Jan 2021 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 ... Read more c b
Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects

Author: Saacks, Nicole Aimee Date: 2020 Background: Congenital heart disease (CHD) is the leading non-infectious cause of paediatric morbidity and mortality worldwide and a significant social and healthcare burden. The aetiology of CHD is poorly understood, though heritable genetic ... Read more
The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study

Author: Shaboodien, Gasnat ; Engel, Mark E ; Syed, Faisal ; Poulton, Joanna ; Badri, Motasim ; Mayosi, Bongani Date: 2009 BACKGROUND: The mitochondrial DNA (mtDNA) T16189C polymorphism, with a homopolymeric C-tract of 10-12 cytosines, is a putative genetic risk factor for idiopathic dilated cardiomyopathy in the African and British populations. We hypothesized ... Read more c b
The pathogenesis of HIV-associated cardiomyopathy : a histological, virological, and genetic study

Author: Shaboodien, Gasnat Date: 2008 Includes abstract. Includes bibliographical references (leaves 115-136). Read more
Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Author: Machipisa, Tafadzwa Date: 2016 Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive form of inherited heart muscle disease characterized by ventricular arrhythmias and sudden cardiac death. Often the pathogenesis is linked to deleterious ... Read more
Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy

Author: Kamuli, Stephen Date: 2016 Introduction: Cardiomyopathy is an endemic disease in Africa that is a major contributor to the clinical syndrome of heart failure. The various forms of cardiomyopathies pose a great challenge in Africa for many reasons, including the difficulty ... Read more