From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

Heart Failure Reviews

Volumn 18, Issue 2, 2013, Pages 187-196

  Kapusta, Livia ^a,b   Zucker, Nili ^c   Frenckel, George ^c   Medalion, Benjamin ^d   Gal, Tuvia Ben ^d   Birk, Einat ^c   Mandel, Hanna ^e   Nasser, Nadim ^f   Morgenstern, Sarah ^d   Zuckermann, Andreas ^g   Lefeber, Dirk J ^h   De Brouwer, Arjen ^a   Wevers, Ron A ^h   Lorber, Avraham ⁱ   Morava, Eva ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WOLFSON MEDICAL CENTER   (Israel)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d RABIN MEDICAL CENTER   (Israel)

^e MEYER CHILDREN S HOSPITAL   (Israel)

^f Family Physician ^*  (Israel)

^g UNIVERSITY OF VIENNA   (Austria)

^h RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

ⁱ RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Cardiac transplantation; CDG Im; Congenital disorders of glycosylation; Dilated cardiomyopathy; Dolichol kinase deficiency; Heart failure

Indexed keywords

ARTICLE; CARDIOVASCULAR MORTALITY; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; DISEASE SEVERITY; DK1 GENE; DOLICHOL KINASE DEFICIENCY; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; LEUKOPENIA; MALE; MICROCYTIC ANEMIA; MUTATIONAL ANALYSIS; MUTATOR GENE; TREATMENT OUTCOME;

CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GLYCOSYLATION; HEART FAILURE; HEART TRANSPLANTATION; HUMANS; MALE; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); TREATMENT OUTCOME;

EID: 84879464716     PISSN: 13824147     EISSN: 15737322     Source Type: Journal    
DOI: 10.1007/s10741-012-9302-6     Document Type: Article

References (28)

1. Freeze HH (2009) Update on congenital disorders of glycosylation. Glycobiology 19:1289
2. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change! Biochimica et Biophysica Acta-Molecular Basis of Disease 1792:825-826
3. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, et al. (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 142:203-217
4. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52:574-600
5. Iijima K, Murakami F, Nakamura K, Ikawa S, Yuasa I, Motosumi H, et al. (1994) Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome. Thromb Res 76:193-198 (Pubitemid 24327485)
6. Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F (2005) Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr 147:847-850 (Pubitemid 41774846)
7. Truin G, Guillard M, Lefeber D, Sykut-Cegielska J, Adarnowicz M, Hoppenreijs E, et al. (2008) Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab 94:481-484
8. Morava E, Wosik HN, Sykut-Cegielska J, Adamowicz M, Guillard M, Wevers RA, et al. (2009) Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol 93:350-354
9. Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, et al. (2010) A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 133:3210-3220
10. Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 15:857-861 (Pubitemid 23023187)
11. Garcia Silva MT, de CJ, Stibler H, Simon R, Chasco YA, Mateos F, et al. (1996) Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 19:257-259 (Pubitemid 26137529)
12. Malhotra A, Pateman A, Chalmers R, Coman D, Menahem S (2009) Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagn Ther 25:54-57
13. Footitt EJ, Karimova A, Burch M, Yayeh T, Dupre T, Vuillaumier-Barrot S, et al.. (2009) Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. J Inherit Metab Dis
14. Marquardt T, Hulskamp G, Gehrmann J, Debus V, Harms E, Kehl HG (2002) Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 161:524-527
15. Kranz C, Basinger AA, Gucsavas-Calikoglu M, Sun LW, Powell CM, Henderson FW, et al. (2007) Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genetics A 143A:1371-1378 (Pubitemid 46870107)
16. Iancu TC, Mahajnah M, Manov I, Cherurg S, Knopf C, Mandel H (2007) The liver in congenital disorders of glycosylation: ultrastructural features. Ultrastruct Pathol 31:189-197 (Pubitemid 47037189)
17. Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, et al. (2007) A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 80:433-440
18. Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J (2010) A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 5
19. Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verriip K, et al. (2009) Deficiency of Dol-P-man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 85:76-86
20. Wortmann SB, Rodenburg RJT, Jonckheere A, de Vries MC, Huizing M, Heldt K, et al. (2009) Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 132:136-146
21. Baig MK, Goldman JH, Caforio AL, Coonar AS, Keeling PJ, McKenna WJ (1998) Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 31:195-201 (Pubitemid 28064742)
22. Wopereis S, Grunewald S, Morava E, Penzien JM, Briones P, Garcia-Silva MT, et al. (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 49:1839-1845 (Pubitemid 37340318)
23. van Reeuwijk J, Grewal PK, Salih MAM, de Bernabe DBV, McLaughlan JM, Michielse CB, et al. (2007) Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 121:685-690 (Pubitemid 46916967)
24. Rip JW, Rupar CA, Ravi K, Carroll KK (1985) Distribution, metabolism and function of dolichol and polyprenols. Prog Lipid Res 24:269-309
25. Cantagrel V, Lefeber DJ (2011) From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases. J Inherit Metab Dis 859-867
26. Kantor PF, Mertens LL (2010) Clinical practice: heart failure in children. Part II: current maintenance therapy and new therapeutic approaches. Eur J Pediatr 169:403-410
27. Silva JN, Canter CE (2010) Current management of pediatric dilated cardiomyopathy. Curr Opin Cardiol 25:80-87
28. Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, et al. (2008) Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Mol Genet Metab 93:444-449