Identification of Cadherin 2 () Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families.

Methods And Results: Whole exome sequencing was performed on 2 cousins with ARVC.

Pregnancy-Associated Heart Failure: A Comparison of Clinical Presentation and Outcome between Hypertensive Heart Failure of Pregnancy and Idiopathic Peripartum Cardiomyopathy.

Aims: There is controversy regarding the inclusion of patients with hypertension among cases of peripartum cardiomyopathy (PPCM), as the practice has contributed significantly to the discrepancy in reported characteristics of PPCM. We sought to determine whether hypertensive heart failure of pregnancy (HHFP) (i.e.

Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis.

Objectives: This study sought to explore the potential role of noncontrast myocardial T1 mapping for detection of cardiac involvement in patients with primary amyloid light-chain (AL) amyloidosis.

Background: Cardiac involvement carries a poor prognosis in systemic AL amyloidosis. Late gadolinium enhancement (LGE) cardiac magnetic resonance (CMR) is useful for the detection of cardiac amyloid, but characteristic LGE patterns do not always occur or they appear late in the disease.

ICU-associated Acinetobacter baumannii colonisation/infection in a high HIV-prevalence resource-poor setting.

Background: There are hardly any data about the incidence, risk factors and outcomes of ICU-associated A.baumannii colonisation/infection in HIV-infected and uninfected persons from resource-poor settings like Africa.

Methods: We reviewed the case records of patients with A.

HIV/AIDS affects blood and blood product use at Groote Schuur Hospital, Cape Town.

Background: Use of blood and blood products in the medical wards at Groote Schuur Hospital, Cape Town, has increased substantially and significantly increased expenditure. It was suspected that the increased burden of HIV/AIDS could be a contributing factor.

Methods: Doctors voluntarily completed a structured questionnaire when blood or blood products were utilised over a 3-month period in 2009.

Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: a comparative study of 120 cases followed up over 14 years.

Background: It is not known whether there are differences in clinical characteristics and outcomes of patients with familial and idiopathic dilated cardiomyopathy (DCM) in an African setting.

Purpose: To compare the clinical characteristics and outcomes of familial and idiopathic DCM.

Methods: We performed a retrospective study of familial and idiopathic DCM at Groote Schuur Hospital, Cape Town, between 1 February 1996 and 31 December 2009.

Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy.

Background: Studies from Europe and North America suggest that 20 - 50% of patients with dilated cardiomyopathy (DCM) may have familial disease. There is little information on the frequency and clinical genetics of familial DCM in Africa.

Purpose: To determine the frequency and probable mode of inheritance of familial DCM in patients referred for investigation of the cause of DCM at a tertiary centre in Cape Town.

Epidemiology of heart failure in sub-Saharan Africa.

Heart failure has emerged as a dominant form of cardiovascular disease in Africa, and has great social and economic relevance owing to its high prevalence, mortality and impact on young, economically active individuals. The causes of heart failure in Africans remain largely nonischemic. Hypertension, cardiomyopathy, rheumatic heart disease, chronic lung disease and pericardial disease are the main contributors to the etiology of cardiac failure in sub-Saharan Africa, accounting for over 90% of cases.

Aetiology and risk factors of peripartum cardiomyopathy: a systematic review.

Background: Peripartum cardiomyopathy (PPCM) is a disorder of unknown aetiology in which heart failure due to left ventricular dysfunction occurs between the last month of pregnancy and first five months post-partum. Theories abound concerning the specific cause and risk factors for PPCM, but none have been accepted universally. The primary objective of this review was to summarize the state of knowledge on the pathogenesis of PPCM, especially in light of recent studies.