Liddle's syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene.

Abstract:

:Resistant hypertension is a common clinical problem in South Africa and is frequently associated with low renin and aldosterone levels, especially in black Africans. In South Africa, novel variants in the epithelial sodium channel (ENaC) have been described to be associated with varying degrees of hypokalaemia and hypertension due to primary sodium retention. We report here a case of Liddle's syndrome due to a novel c.1709del11 (p.Ser570Tyrfs*20) deletion in the beta-subunit of the ENaC in a young black African male. We discuss the likely pathogenesis of hypertension in this setting as well as the treatment options available in South Africa aimed at the ENaC. This case highlights the need for vigilance in detecting and appropriately treating low-renin and low-aldosterone hypertension in view of the frequency of the described variants of the ENaC channel in our country. Specific therapy such as amiloride should be made more widely available.

journal_name

Cardiovasc J Afr

authors

Freercks R,Meldau S,Jones E,Ensor J,Weimers-Willard C,Rayner B

doi

10.5830/CVJA-2017-012

subject

Has Abstract

pub_date

2017-09-23 00:00:00

pages

e4-e6

issue

4

eissn

1995-1892

issn

1680-0745

journal_volume

28

pub_type

杂志文章
  • Acute aortic dissection with a dangerous duo in an adolescent boy.

    abstract::Acute type II aortic dissection and aortic coarctation are rare combined disorders. This report is of a patient with coarctation, a bicuspid aortic valve and type II dissection, who underwent emergency repair for the dissection, with aortic valve preservation. Repair of the coarctation was planned for a future occasio...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2013-064

    authors: Bezgin T,Doğan C,Elveran A,Karagöz A,Yücel C,Esen AM

    更新日期:2013-09-23 00:00:00

  • Aortic dissection, a complication during successful angioplasty of chronic total occlusion of the right coronary artery, was treated conservatively.

    abstract::Aortic dissection is an uncommon but potentially lethal complication that can occur during the engagement of a guiding catheter. We report a case of a 59-year-old woman with acute aortic dissection due to percutaneous coronary intervention. This resulted in a retrograde extension of the dissection into the proximal p...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2011-050

    authors: Chunlai S,Stella PR,Belkacemi A,Agostoni P

    更新日期:2012-05-12 00:00:00

  • The history of the Pan-African Society of Cardiology (PASCAR): the first 30 years, 1981-2011.

    abstract::The year 2011 marks the 30th anniversary of the founding of the Pan-African Society of Cardiology (PASCAR). Throughout its brief history, PASCAR has been integral to improving the cardiovascular health of the people of Africa. During the past three decades, many African countries have been vulnerable to political and ...

    journal_title:Cardiovascular journal of Africa

    pub_type: 社论,历史文章

    doi:

    authors: Watkins D,Omokhodion SI,Mayosi BM

    更新日期:2011-05-01 00:00:00

  • Sustained idiopathic ventricular tachycardia originating from the posteroseptal tricuspid annulus.

    abstract::Tricuspid annular ventricular tachycardia (VT) is a rarely encountered entity. Despite abundant data on idiopathic VTs, the prevalence and clinical characteristics of this infrequent form are not well defined and the efficacy of radiofrequency (RF) catheter ablation treatment remains unknown. We report on a case of a ...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2012-010

    authors: Celik T,Bugan B,Kose S,Yuksel UC,Iyisoy A,Kabul HK,Kursaklioglu H,Isik E

    更新日期:2012-07-12 00:00:00

  • A fatal complication after repair of post-infarction ventricular septal rupture: heparin-induced thrombocytopenia with thrombosis.

    abstract::Heparin-induced thrombocytopenia (HIT) is a rare but potentially devastating and life-threatening complication from using heparin. HIT not only causes thrombocytopenia, but it also carries an increased risk for fatal thrombotic complications. In this report, we describe the case of a patient in whom fatal HIT develope...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2015-001

    authors: Nazli Y,Colak N,Demircelik B,Alpay MF,Cakir O,Cagli K

    更新日期:2015-05-23 00:00:00

  • The clinical prognostic significance of myocardial performance index (MPI) in stable placental-mediated disease.

    abstract:AIM:To determine whether a single elevated myocardial performance index (MPI) value in the third trimester of pregnancy is a marker for later adverse obstetric outcomes in stable placental-mediated disease, defined as well-controlled pre-eclampsia (PE) on a single agent and/or uncompensated intra-uterine growth restric...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2018-036

    authors: Bhorat I,Pillay M,Reddy T

    更新日期:2018-09-01 00:00:00

  • A diagnostic algorithm for pulmonary hypertension due to left heart disease in resource-limited settings: can busy clinicians adopt a simple, practical approach?

    abstract::Pulmonary hypertension (PH) has progressively moved from an orphan disease to a significant global health problem with a major disease burden in limited7hyphen;resource countries, where over 97% of patients live. The aetiologies of PH differ between high- and low-income nations, but PH due to left heart disease is cre...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,评审

    doi:10.5830/CVJA-2018-042

    authors: Dzudie A,Kengne AP,Lamont K,Dzekem BS,Aminde LN,Abanda MH,Thienemann F,Sliwa K

    更新日期:2019-01-01 00:00:00

  • Familial hypercholesterolaemia in South Africans: tracking findings and developments over time - with reference to : prevalence of hypercholesterolaemia in young Afrikaners with myocardial infarction. Ischaemic heart disease risk factors.

    abstract::This review discusses the 1987 article by Wyndham, Seftel, Pilcher and Baker on familial hypercholesterolaemia (FH) and myocardial infarction (MI) in young Afrikaners, in terms of the significance at the time of publication, as well as the relevance of their findings versus current observations on hypercholesterolaemi...

    journal_title:Cardiovascular journal of Africa

    pub_type: 历史文章,杂志文章

    doi:

    authors: Delport R

    更新日期:2009-01-01 00:00:00

  • Infliximab, an anti-TNF-alpha agent, improves left atrial abnormalities in patients with rheumatoid arthritis: preliminary results.

    abstract:BACKGROUND:Rheumatoid arthritis (RA) is associated with increased cardiovascular morbidity and mortality. In the current prospective study, we addressed the impact of RA on left atrial (LA) function and electrical remodelling. Further, we tried to demonstrate the effects of infliximab, an anti-TNF-alpha agent, on echoc...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2014-036

    authors: Çetin S,Mustafa G,Keskin G,Yeter E,Doğan M,Öztürk MA

    更新日期:2014-07-01 00:00:00

  • ACCORD LIPID study results strengthen guideline approach of adding fenofibrate to therapy of dyslipidaemic type 2 diabetic patients.

    abstract::Type 2 diabetic patients treated with statins but still experiencing elevated serum levels of triglycerides (2.3 mmol/l or higher) and low HDL cholesterol (0.8 mmol/l or lower), a pre-specified subgroup, benefited from the addition of fenofibrate to their treatment regimen. Risk of cardiovascular events was reduced by...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:

    authors: Aalbers J

    更新日期:2010-03-01 00:00:00

  • The effect of perindopril on echocardiographic parameters, NYHA functional class and serum NT-proBNP values in patients with diastolic heart failure.

    abstract:INTRODUCTION:Growing evidence has demonstrated that diastolic heart failure occurs in about half of heart failure (HF) patients. We investigated the effects of perindopril on echocardiographic parameters, New York Heart Association (NYHA) functional class and serum N-terminal pro B-type natriuretic peptide (NT-proBNP) ...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,随机对照试验

    doi:10.5830/CVJA-2019-022

    authors: Yuksek U,Cerit L,Eren NK,Ergene O

    更新日期:2019-07-01 00:00:00

  • Assessing perinatal depression as an indicator of risk for pregnancy-associated cardiovascular disease.

    abstract::Cardiovascular conditions associated with pregnancy are serious complications. In general, depression is a well-known risk indicator for cardiovascular disease (CVD). Mental distress and depression are associated with physiological responses such as inflammation and oxidative stress. Both inflammation and oxidative st...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,评审

    doi:10.5830/CVJA-2015-087

    authors: Nicholson L,Lecour S,Wedegärtner S,Kindermann I,Böhm M,Sliwa K

    更新日期:2016-03-01 00:00:00

  • Transcatheter closure of the patent ductus arteriosus at a public sector hospital in Soweto, South Africa: a review of patient outcomes over 15 years.

    abstract:BACKGROUND:Methods of closing patent ductus arteriosus (PDA) have evolved over time. We review this development in our setting. METHODS:This was a retrospective analysis of children who had transcatheter PDA closure at Chris Hani Baragwanath Hospital between 1993 and 2008. RESULTS:Over 15 years, 1 254 PDAs were diagn...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2018-028

    authors: Adams PE,Chersich MF,Cilliers A

    更新日期:2018-07-01 00:00:00

  • The effect of mebudipine on cardiac function and activity of the myocardial nitric oxide system in ischaemia-reperfusion injury in rats.

    abstract:OBJECTIVES:Previous studies have suggested that failure of the synthesis of nitric oxide is involved in the pathophysiology of myocardial ischaemia-reperfusion injury. In this study, we investigated the effect of mebudipine, a new dihydropyridine calcium channel blocker, on cardiac function and activity of the myocardi...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2010-078

    authors: Ghyasi R,Mohammadi M,Badalzadeh R,Rashidi B,Sepehri G

    更新日期:2011-11-01 00:00:00

  • Differences in hypertension between blacks and whites: an overview.

    abstract::Hypertension is more prevalent and severe in urban black populations compared to whites, and is associated with a greater degree of target-organ damage for any given blood pressure level. In general, compared to whites, blacks respond well to diuretics and calcium channel blockers and less well to beta-blockers and AC...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,评审

    doi:

    authors: Lindhorst J,Alexander N,Blignaut J,Rayner B

    更新日期:2007-07-01 00:00:00

  • The therapeutic management of South African dyslipidaemic patients at very high cardiovascular risk (CARDIO TRACK): a cross-sectional study.

    abstract:BACKGROUND:Dyslipidaemia is a major modifiable risk factor for atherosclerotic cardiovascular disease. At the time the study was conducted, guidelines recommended a low-density lipoprotein cholesterol (LDL-C) target of less than 1.8 mmol/l and a reduction of at least 50% if the baseline LDL-C was between 1.8 and 3.5 mm...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,多中心研究

    doi:10.5830/CVJA-2020-010

    authors: Blom DJ,Ranjith N,Joshi P,Naidoo P,van Tonder A,Musa MG,Joshi S,Leisegang R,Trokis JS,Makan H,Raal FJ

    更新日期:2020-09-01 00:00:00

  • Total correction in tetralogy of Fallot with anomalous major coronary artery: an alternative method to conduit use.

    abstract:INTRODUCTION:A coronary artery anomaly precludes the use of a trans-annular patch in right ventricular outflow tract (RVOT) reconstruction. Herein we present three patients with coronary artery anomalies who underwent total corrective operations without using a conduit. METHODS:Between 2007 and 2010, 84 patients with ...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2011-004

    authors: Saritas B,Ozker E,Vuran E,Yoruker U,Ayabakan C,Turkoz R

    更新日期:2012-03-12 00:00:00

  • Mean platelet volume is associated with myocardial perfusion defect in diabetic patients.

    abstract:AIM:Our aim was to evaluate whether there was a relationship between mean platelet volume and myocardial perfusion defect in diabetic patients using myocardial perfusion imaging. METHODS:Forty-four diabetic patients with myocardial perfusion defect (group 1) and 44 diabetic patients without myocardial perfusion defect...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2014-013

    authors: Sarikaya S,Sahin S,Akyol L,Borekci E,Yilmaz YK,Altunkas F,Karaman K,Karacavus S,Erbay AR

    更新日期:2014-05-01 00:00:00

  • Quality of life-associated factors among patients undergoing coronary artery bypass surgery as measured using the WHOQOL-BREF.

    abstract::This was a study of the pre-operative factors that influence quality of life (QoL) in patients with coronary artery disease and the relationship between pre-operative QoL and early outcome after coronary artery bypass surgery (CABG). Using the WHOQOL-BREF questionnaire, 283 patients who underwent isolated coronary art...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:

    authors: Najafi M,Sheikhvatan M,Montazeri A

    更新日期:2009-09-01 00:00:00

  • Haemorrhage and other complications in pregnant women on anticoagulation for mechanical heart valves: a prospective observational cohort study.

    abstract:OBJECTIVE:To document maternal and foetal morbidity and mortality in anticoagulated, pregnant patients with mechanical heart valves until 42 days postpartum. METHODS:In a tertiary single-centre, prospective cohort, 178 consecutive patients at the cardiac-obstetric clinic were screened for warfarin use between 1 July 2...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2018-029

    authors: Kariv S,Azibani F,Baard J,Osman A,Soma-Pillay P,Anthony J,Sliwa K

    更新日期:2018-09-01 00:00:00

  • Coronary stent restenosis and the association with allergy to metal content of 316L stainless steel.

    abstract:BACKGROUND:Most intra-coronary stents in use are made of 316 L stainless steel, which contains nickel, chromate and molybdenum. Whether inflammatory and allergic reactions to metals contribute to in-stent restenosis is still a matter of debate. AIM:The aim of this study was to ascertain the relationship between metal ...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2017-036

    authors: Slodownik D,Danenberg C,Merkin D,Swaid F,Moshe S,Ingber A,Lotan H,Durst R

    更新日期:2018-01-01 00:00:00

  • Achieving blood preSsure goals sTudy in uncontrolled hypeRtensive pAtients treated with a fixed-dose combination of ramipriL/hydrochlorothiazide: the ASTRAL study.

    abstract:BACKGROUND:Hypertension is a common cardiovascular disease, affecting adults worldwide and it accounts for up to 30% of all deaths. The need for better control of arterial hypertension justifies observational studies designed to better understand the real-life management of hypertensive patients. The ASTRAL study was p...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,多中心研究

    doi:10.5830/cvja-2010-086

    authors: Okpechi IG,Schoeman HS,Longo-Mbenza B,Oke DA,Kingue S,Nkoua JL,Rayner BL

    更新日期:2011-03-01 00:00:00

  • Rates and predictors of stroke-associated case fatality in black Central African patients.

    abstract:OBJECTIVE:To identify case fatality rates and predictors of stroke in a private clinic in Kinshasa, Democratic Republic of Congo. METHODS:Two hundred and twelve black Africans were consecutively admitted to a clinic and prospectively assessed during the first 30 days by CT scan-proven stroke types and outcome. Univari...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:

    authors: Longo-Mbenza B,Lelo Tshinkwela M,Mbuilu Pukuta J

    更新日期:2008-03-01 00:00:00

  • A retrospective analysis of factors influencing re-operation in patients undergoing mechanical valve replacement.

    abstract:BACKGROUND:We aimed to determine the possible factors leading to re-operation in patients undergoing mechanical valve replacement and to investigate the relationship between valvular thrombus formation and mean platelet volume. METHODS:The medical records of 43 patients with mechanical valve implantation, who were adm...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2013-044

    authors: Aydin E,Yapici F

    更新日期:2013-08-01 00:00:00

  • Short-term warfarin treatment for apical thrombus in a patient with Takotsubo cardiomyopathy.

    abstract::Takotsubo cardiomyopathy (TCMP) is characterised by a temporary aneurysm of the left ventricular apex in individuals without significant stenosis of the coronary arteries. It is extremely rare to see it combined with a thrombus. In this case report, we present a 57-year-old female patient with TCMP in whom apical thro...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2016-011

    authors: Icli A,Akilli H,Kayrak M,Aribas A,Ozdemir K

    更新日期:2016-05-01 00:00:00

  • The value of community outreach for a University: a synthesis of trends in higher education The case of the University of Limpopo (ELS 45).

    abstract:BACKGROUND:The South African National Development Plan (SANDP) vision for 2030 highlights key recommendations for reducing the prevalence of non-communicable diseases (NCDs) by 28% by 2030. These are mirrored by the World Heart Federation, although it focuses on reducing the NCD prevalence by 25% by 2025. The targeted ...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2018-059

    authors: Siweya H,Monyeki KD

    更新日期:2019-01-01 00:00:00

  • Performance of re-used pacemakers and implantable cardioverter defibrillators compared with new devices at Groote Schuur Hospital in Cape Town, South Africa.

    abstract:OBJECTIVES:Little is known about the performance of re-used pacemakers and implantable cardioverter defibrillators (ICDs) in Africa. We sought to compare the risk of infection and the rate of malfunction of re-used pacemakers and ICDs with new devices implanted at Groote Schuur Hospital in Cape Town, South Africa. MET...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2015-048

    authors: Jama ZV,Chin A,Badri M,Mayosi BM

    更新日期:2015-07-01 00:00:00

  • The role of novel atherosclerosis markers in peripheral artery disease: is there a gender difference?

    abstract::Peripheral arterial disease (PAD) represents a major public health problem due to its high and increasing prevalence, worldwide distribution, and significant morbidity and mortality rate. Female gender is a risk factor for PAD globally and especially in low-income countries. In this review, we summarise the present kn...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章,评审

    doi:10.5830/CVJA-2018-023

    authors: Comşa HI,Zdrenghea D,Man SC,Pop D

    更新日期:2018-09-01 00:00:00

  • Cardiac surgery for patients with heart failure due to structural heart disease in Uganda: access to surgery and outcomes.

    abstract:OBJECTIVE:Few data are available on heart failure (HF) in sub-Saharan Africa. We aimed to provide a current picture of HF aetiologies in urban Uganda, access to heart surgery, and outcomes. METHODS:We prospectively collected clinical and echocardiographic data from 272 consecutive patients referred for suspected heart...

    journal_title:Cardiovascular journal of Africa

    pub_type: 杂志文章

    doi:10.5830/CVJA-2014-034

    authors: Grimaldi A,Ammirati E,Karam N,Vermi AC,de Concilio A,Trucco G,Aloi F,Arioli F,Figini F,Ferrarello S,Sacco FM,Grottola R,D'Arbela PG,Alfieri O,Marijon E,Freers J,Mirabel M

    更新日期:2014-09-01 00:00:00

  • Repetitive use of levosimendan in clinical practice: a case series.

    abstract::Levosimendan was developed as a treatment for acute decompensation of severe heart failure (HF). Its use has evolved during recent years, and new HF treatment strategies in different settings have been developed. This case series aimed to show indications for the use of levosimendan and to discuss the treatment respon...

    journal_title:Cardiovascular journal of Africa

    pub_type:

    doi:10.5830/CVJA-2020-058

    authors: Wawrzyniak M,Migaj J,Straburzyńska-Migaj E,Dudek M,Kałużna-Oleksy M

    更新日期:2021-01-15 00:00:00