Cardiac involvement in limb-girdle muscular dystrophy 2I: Conventional cardiac diagnostic and cardiovascular magnetic resonance

Journal of Neurology

Volumn 253, Issue 10, 2006, Pages 1317-1322

  Gaul, C ^a   Deschauer, M ^a   Tempelmann, C ^b   Vielhaber, S ^b   Klein, H U ^b   Heinze, H J ^b   Zierz, S ^a   Grothues, F ^b  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

Cardiac involvement; Cardiovascular magnetic resonance imaging; Fukutin related protein; Limb girdle muscular dystrophy (LGMD)

Indexed keywords

FUKUTIN;

ADULT; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; GENE MUTATION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HOMOZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 21; MALE; MYALGIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; HEART DISEASES; HEART FUNCTION TESTS; HEART VENTRICLES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PAIN; PROTEINS;

EID: 33750619100     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0213-0     Document Type: Article

References (14)

1. Bellenger NG, Grothues F, Smit GC, Pennell DJ (2000) Quantification of right and left ventricular fubction by cardiovascular magnetic resonance Herz 25: 392-399
2. Brockington M, Yuva Y, Prandini P, Brown SC, Trelli S, Benson MA, Hermann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F (2001) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular -dystrophy MDC1C Hum Mol Genet 10:2851-2859
3. de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cassia Pavanello R, Vainzof M, Nigro V, Zatz M (2003) Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum Eur J Hum Genet 12:923-30
4. Finsterer J, Stöllberger C (2000) Cardiac involvement in primary myopathies Cardiology 94: 1-11
5. Grothues F, Smith GS, Moon JCC, Bellenger NG, Collins P, Klein HU, Pennell DJ (2002) Comparison of interstudy reproducibility of Cardiovascular Magnetic Resonance and 2D Echocardiography in normals, and in patients with heart failure or left ventricular hypertrophy Am J Cardiol 90: 29-34
6. Grothues F, Moon JC, Bellenger NG, Smith GS, Klein HU, Pennell DJ (2004) Interstudy reproductibility of right ventricular volumes, function, and mass with cardiovascular magnetic resonance Am Heart J 147:218-23
7. Hudsmith LE, Petersen SE, Francis JM, Robson MD, Neubauer S (2005) Normal human left and right ventricular and left atrial dimensions using steady state free precession magnetic resonance imaging J Cardiovasc Magn Reson. 7:775-82
8. Katz J, Milliken MC, Stray-Gundersen J, Mitchell JH, Peshock RM (1988). Estimation of human myocardial mass with with MR imaging Radiology 169:495-498
9. Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC (2002) Defective glycosylation in muscular dystrophy Lancet 360:1419-21
10. Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S (2005) Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation Neuromusc Disord 15:372-376
11. Poppe M, Cree L, Bourke J, Eagle M, Anderson LVB, Birchall D, Brockington M, Buddles M, Busby M, Mutoni F, Wills A, Bushby K (2003) The phenotype of limb-girdle muscular dystrophy type 2I Neurology 60:1246-1251
12. Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Busby K (2004) Cardiac and respiratory failure in Limb-Girdle Muscular Dystrophy 2I Ann Neurol 56:738-741
13. Sohn DW, Chai IH, Lee DJ, Kim HC, Kim HS, Oh BH, Lee MM, Park YB, Choi YS, Seo JD, Lee YW (1997) Assessment of mitral annulus velocity by Doppler Tissue Imaging in the evaluation of left ventricular diastolic function J Am Coll Cardiol 30:474-480
14. Walter MC, Petersen JA, Stucka R, Fischer D, Schröder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebener A, Barisic N, Horvarth R, Komoly S, Reilich P, Müller-Felber W, Pongratz D, Müller JS, Auerswald EA, Lochmüller H (2004) FKRP (826C > A) frequently causes limb-girdle muscular dystrophy in german patients J Med Gent 41:e50