Ventricular noncompaction in a female patient with nephropathic cystinosis: A case report

Journal of Medical Case Reports

Volumn 3, Issue , 2009, Pages

  Ahmed, Ibrar ^a   Phan, Thanh Trung ^a   Lipkin, Graham W ^b   Frenneaux, Michael ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALFACALCIDOL; CALCIUM CARBONATE; CARVEDILOL; FOLIC ACID; LEVOTHYROXINE; MERCAPTAMINE; NOVEL ERYTHROPOIESIS STIMULATING PROTEIN; PERINDOPRIL; PREDNISOLONE;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; CYSTINOSIS; DEFIBRILLATION; DYSPNEA; ECHOCARDIOGRAPHY; FEMALE; HEART ARREST; HEART FAILURE; HEART VENTRICLE TACHYCARDIA; HEMODIALYSIS; HUMAN; HYPOTENSION; ISOLATED VENTRICULAR NONCOMPACTION; KIDNEY FAILURE; NEPHROPATHIC CYSTINOSIS; PRIORITY JOURNAL; SINUS RHYTHM; TRANSTHORACIC ECHOCARDIOGRAPHY;

EID: 61849162327     PISSN: 17521947     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-3-31     Document Type: Article

References (16)

1. Abderhalden E Familiare Cystindiathese Z Physiol Chem 1903, 38:557-561
2. Geraldine A et al Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group Nat Genet 1995, 10:246-248 10.1038/ng0695-246 7663525
3. Gahl WA Dalakas MC Charnas L Chen KT Pezeshkpour GH Kuwabara T Davis SL Chesney RW Fink J Hutchison HT Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis N Engl J Med 1988, 319:1461-1464 3185663
4. Dixit MP Greifer I Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up BMC Nephrol 2002, 3:8 137602 12425721 10.1186/1471-2369-3-8
5. Nugent AW Daubeney PE Chondros P Carlin JB Cheung M Wilkinson LC Davis AM Kahler SG Chow CW Wilkinson JL Weintraub RG National Australian Childhood Cardiomyopathy Study The epidemiology of childhood cardiomyopathy in Australia N Engl J Med 2003, 348:1639-1646 10.1056/ NEJMoa021737 12711738
6. Stollberger C Finsterer J Pitfalls in the diagnosis of left ventricular hypertrabeculation/non-compaction Postgrad Med J 2006, 82:679-683 10.1136/pgmj.2006.046169 17068279
7. Ritter M Oechslin E Sutsch G Attenhofer C Schneider J Jenni R Isolated noncompaction of the myocardium in adults Mayo Clin Proc 1997, 72:26-31 10.4065/72.1.26 9005281
8. Sasse-Klaassen S Probst S Gerull B Oechslin E Nürnberg P Heuser A Jenni R Hennies HC Thierfelder L Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15 Circulation 2004, 109:2720-2723 10.1161/01.CIR.0000131865.21260.56 15173023
9. Chen R Tsuji T Ichida F Bowles KR Yu X Watanabe S Hirono K Tsubata S Hamamichi Y Ohta J Imai Y Bowles NE Miyawaki T Towbin JA Noncompaction study collaborators Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction Mol Genet Metab 2002, 77:319-325 10.1016/S1096-7192(02)00195-6 12468278
10. Chin TK Perloff JK Williams RG Jue K Mohrmann R Isolated noncompaction of left ventricular myocardium. A study of eight cases Circulation 1990, 82:507-513 2372897
11. Stollberger C Finsterer J Blazek G Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders Am J Cardiol 2002, 90:899-902 10.1016/ S0002-9149(02)02723-6 12372586
12. Oechslin EN Attenhofer Jost CH Rojas JR Kaufmann PA Jenni R Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis J Am Coll Cardiol 2000, 36:493-500 10.1016/S0735-1097(00)00755-5 10933363
13. Ichida F Hamamichi Y Miyawaki T Ono Y Kamiya T Akagi T Hamada H Hirose O Isobe T Yamada K Kurotobi S Mito H Miyake T Murakami Y Nishi T Shinohara M Seguchi M Tashiro S Tomimatsu H Clinical features of isolated noncompaction of the ventricular myocardium: Long-term clinical course, hemodynamic properties, and genetic background J Am Coll Cardiol 1999, 34:233-240 10.1016/S0735-1097(99)00170-9 10400016
14. Jenni R Oechslin E Schneider J Attenhofer JC Kaufmann PA Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy Heart 2001, 86:666-671 1730012 11711464 10.1136/ heart.86.6.666
15. Agmon Y Connolly HM Olson LJ Khandheria BK Seward JB Noncompaction of the ventricular myocardium J Am Soc Echocardiogr 1999, 12:859-863 10.1016/S0894-7317(99)70192-6 10511656
16. Boyd MT Seward JB Tajik AJ Edwards WD Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: Implications for valuation of mural thrombi by two-dimensional echocardiography Am Coll Cardiol 1987, 9:J323-326