Literature DB >> 24954991

Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report.

Ammar M H Qadi1, Hussam K Hamadah1, Abdulraouf M Z Jijeh1, Omar M Hijazi1, Mohamad S Kabbani1.   

Abstract

In this report, we present a rare association between Ebstein anomaly (EA) and isovaleric acidemia (IVA) in a newborn who was admitted to our cardiac center. He underwent for PDA stenting to maintain adequate pulmonary blood flow, later he developed recurrent metabolic acidosis, prominent sweaty feet odor, neutropenia and thrombocytopenia. His organic acids profile in the urine confirmed the diagnosis of IVA. To the best of our knowledge, there is no association between these two rare diseases. We are presenting this case report to highlight this rare association.

Entities:  

Keywords:  Congenital heart disease; Ebstein anomaly; Isovaleric acidemia; Metabolic disorder

Year:  2014        PMID: 24954991      PMCID: PMC4062762          DOI: 10.1016/j.jsha.2014.01.004

Source DB:  PubMed          Journal:  J Saudi Heart Assoc        ISSN: 1016-7315


  12 in total

Review 1.  How I manage neonatal Ebstein's anomaly.

Authors:  Edward L Bove; Jennifer C Hirsch; Richard G Ohye; Eric J Devaney
Journal:  Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu       Date:  2009

2.  Management of functional pulmonary atresia with isoproterenol in a neonate with Ebstein's anomaly.

Authors:  H Suzuki; M Nakasato; S Sato; H Komatsu; K Hayasaka
Journal:  Tohoku J Exp Med       Date:  1997-04       Impact factor: 1.848

3.  The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia.

Authors:  K Tanaka; K J Isselbacher
Journal:  J Biol Chem       Date:  1967-06-25       Impact factor: 5.157

4.  Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Authors:  Regina Ensenauer; Ralph Fingerhut; Esther M Maier; Roman Polanetz; Bernhard Olgemöller; Wulf Röschinger; Ania C Muntau
Journal:  Clin Chem       Date:  2011-02-18       Impact factor: 8.327

5.  Cardiac disease in methylmalonic acidemia.

Authors:  Carlos E Prada; Fatma Al Jasmi; Edwin P Kirk; Maxwell Hopp; Owen Jones; Nancy D Leslie; T Andrew Burrow
Journal:  J Pediatr       Date:  2011-07-23       Impact factor: 4.406

6.  Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Authors:  M Dercksen; M Duran; L Ijlst; L J Mienie; C J Reinecke; J P N Ruiter; H R Waterham; R J A Wanders
Journal:  J Inherit Metab Dis       Date:  2012-02-17       Impact factor: 4.982

7.  A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Authors:  Regina Ensenauer; Jerry Vockley; Jan-Marie Willard; Joseph C Huey; Jörn Oliver Sass; Steven D Edland; Barbara K Burton; Susan A Berry; René Santer; Sarah Grünert; Hans-Georg Koch; Iris Marquardt; Piero Rinaldo; Sihoun Hahn; Dietrich Matern
Journal:  Am J Hum Genet       Date:  2004-10-14       Impact factor: 11.025

8.  Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

Authors:  Jozef L Hertecant; Imen Ben-Rebeh; Muhaned A Marah; Thikra Abbas; Leila Ayadi; Salma Ben Salem; Fatma A Al-Jasmi; Lihadh Al-Gazali; Said A Al-Yahyaee; Bassam R Ali
Journal:  Eur J Med Genet       Date:  2012-08-16       Impact factor: 2.708

9.  Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

Authors:  Stéphane Romano; Vassili Valayannopoulos; Guy Touati; Jean-Pierre Jais; Daniel Rabier; Yves de Keyzer; Damien Bonnet; Pascale de Lonlay
Journal:  J Pediatr       Date:  2010-01       Impact factor: 4.406

Review 10.  Review: Metabolic cardiomyopathy and conduction system defects in children.

Authors:  Enid Gilbert-Barness
Journal:  Ann Clin Lab Sci       Date:  2004       Impact factor: 1.256

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  2 in total

Review 1.  Organic acid disorders.

Authors:  Jessica Ramsay; Jacob Morton; Marie Norris; Shibani Kanungo
Journal:  Ann Transl Med       Date:  2018-12

2.  Ventricular tachycardia an atypical presentation of Ebstein's disease.

Authors:  Gabriel E Baztarrica; Gastón G Sereno; Sebastían A Villecco; Rafael Porcile
Journal:  Saudi Med J       Date:  2014-12       Impact factor: 1.484

  2 in total

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