Literature DB >> 27903575

Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.

Dina Labib1, Haytham Soliman1, Kareem Said1, Khaled Sorour1.   

Abstract

An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Medical treatment resulted in significant improvement of dyslipidaemia. We successfully performed balloon dilation and stenting of his coarctation, as well as percutaneous coronary intervention for RCA lesion. 2016 BMJ Publishing Group Ltd.

Entities:  

Mesh：

Year:  2016        PMID： 27903575      PMCID： PMC5175009          DOI： 10.1136/bcr-2016-216147

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  12 in total

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Authors:  Michael J Lipinski; Umberto Benedetto; Ricardo O Escarcega; Giuseppe Biondi-Zoccai; Thibault Lhermusier; Nevin C Baker; Rebecca Torguson; H Bryan Brewer; Ron Waksman
Journal:  Eur Heart J       Date:  2015-11-17       Impact factor: 29.983

2.  Familial hypercholesterolemia with coarctation of aorta.

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Journal:  J Postgrad Med       Date:  2007 Jul-Sep       Impact factor: 1.476

3.  Indications for cardiac catheterization and intervention in pediatric cardiac disease: a scientific statement from the American Heart Association.

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Journal:  Circulation       Date:  2011-05-02       Impact factor: 29.690

4.  The congenitally bicuspid aortic valve. A study of 85 autopsy cases.

Authors:  W C Roberts
Journal:  Am J Cardiol       Date:  1970-07       Impact factor: 2.778

5.  Off-Pump Double Coronary Bypass in a Case of Familial Hypercholesterolemia With Coarctation of the Aorta.

Authors:  Mehmet Kaya; Korhan Erkanlı; Mugisha Kyaruzi; İhsan Bakır
Journal:  World J Pediatr Congenit Heart Surg       Date:  2016-01-21

6.  Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study.

Authors:  Marina Cuchel; Emma A Meagher; Hendrik du Toit Theron; Dirk J Blom; A David Marais; Robert A Hegele; Maurizio R Averna; Cesare R Sirtori; Prediman K Shah; Daniel Gaudet; Claudia Stefanutti; Giovanni B Vigna; Anna M E Du Plessis; Kathleen J Propert; William J Sasiela; LeAnne T Bloedon; Daniel J Rader
Journal:  Lancet       Date:  2012-11-02       Impact factor: 79.321

7.  Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Authors:  Beatrice Bissig-Choisat; Lili Wang; Xavier Legras; Pradip K Saha; Leon Chen; Peter Bell; Francis P Pankowicz; Matthew C Hill; Mercedes Barzi; Claudia Kettlun Leyton; Hon-Chiu Eastwood Leung; Robert L Kruse; Ryan W Himes; John A Goss; James M Wilson; Lawrence Chan; William R Lagor; Karl-Dimiter Bissig
Journal:  Nat Commun       Date:  2015-06-17       Impact factor: 14.919

8.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.

Authors:  Børge G Nordestgaard; M John Chapman; Steve E Humphries; Henry N Ginsberg; Luis Masana; Olivier S Descamps; Olov Wiklund; Robert A Hegele; Frederick J Raal; Joep C Defesche; Albert Wiegman; Raul D Santos; Gerald F Watts; Klaus G Parhofer; G Kees Hovingh; Petri T Kovanen; Catherine Boileau; Maurizio Averna; Jan Borén; Eric Bruckert; Alberico L Catapano; Jan Albert Kuivenhoven; Päivi Pajukanta; Kausik Ray; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen
Journal:  Eur Heart J       Date:  2013-08-15       Impact factor: 29.983

Review 9.  Mechanisms of disease: genetic causes of familial hypercholesterolemia.

Authors:  Anne K Soutar; Rossi P Naoumova
Journal:  Nat Clin Pract Cardiovasc Med       Date:  2007-04

10.  Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

Authors:  Marina Cuchel; Eric Bruckert; Henry N Ginsberg; Frederick J Raal; Raul D Santos; Robert A Hegele; Jan Albert Kuivenhoven; Børge G Nordestgaard; Olivier S Descamps; Elisabeth Steinhagen-Thiessen; Anne Tybjærg-Hansen; Gerald F Watts; Maurizio Averna; Catherine Boileau; Jan Borén; Alberico L Catapano; Joep C Defesche; G Kees Hovingh; Steve E Humphries; Petri T Kovanen; Luis Masana; Päivi Pajukanta; Klaus G Parhofer; Kausik K Ray; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Albert Wiegman; Olov Wiklund; M John Chapman
Journal:  Eur Heart J       Date:  2014-07-22       Impact factor: 35.855
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  1 in total

1.  Early myocardial functional abnormalities in primary dyslipidemia: clinical and echocardiographic observations in young children from a highly consanguineous population.

Authors:  Nehal M El-Koofy; Aya M Fattouh; Areef Ramadan; Mohamed A Elmonem; Dina H Hamed
Journal:  Clin Exp Pediatr       Date:  2021-12-08
  1 in total

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