From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
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- 作者：Livia Kapusta (1) (2)
Nili Zucker (3)
George Frenckel (4)
Benjamin Medalion (5)
Tuvia Ben Gal (6)
Einat Birk (3)
Hanna Mandel (7)
Nadim Nasser (8)
Sarah Morgenstern (9)
Andreas Zuckermann (10)
Dirk J. Lefeber (11) (12)
Arjen de Brouwer (13)
Ron A. Wevers (12)
Avraham Lorber (14)
Eva Morava (15) - 关键词：Dilated cardiomyopathy ; Heart failure ; CDG ; Im ; Congenital disorders of glycosylation ; Dolichol kinase deficiency ; Cardiac transplantation
- 刊名：Heart Failure Reviews
- 出版年：2013
- 出版时间：March 2013
- 年：2013
- 卷：18
- 期：2
- 页码：187-196
- 全文大小：552KB
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Nili Zucker (3)
George Frenckel (4)
Benjamin Medalion (5)
Tuvia Ben Gal (6)
Einat Birk (3)
Hanna Mandel (7)
Nadim Nasser (8)
Sarah Morgenstern (9)
Andreas Zuckermann (10)
Dirk J. Lefeber (11) (12)
Arjen de Brouwer (13)
Ron A. Wevers (12)
Avraham Lorber (14)
Eva Morava (15)
1. Children’s Heart Centre, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
2. Pediatric Cardiology Unit, Edith Wolfson Medical Center, Holon, Israel
3. Heart Institute, Schneider Children’s Medical Centre of Israel, Petach Tikva, Israel
4. Pediatric Cardiothoracic Surgery, Schneider Children’s Medical Centre of Israel, Petach Tikva, Israel
5. Department of Cardiothoracic Surgery, Rabin Medical Centre, Petach Tikva, Israel
6. Department of Cardiology, Rabin Medical Centre, Petach Tikva, Israel
7. Metabolic Unit, Meyer Children’s Hospital, Rambam Medical Center, Haifa, Israel
8. Family Physician, High Gallilee-Acre, Israel
9. Department of Pathology, Rabin Medical Center, Petach Tikva, Israel
10. Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria
11. Institute of Genetic Metabolic and Endocrine Diseases, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
12. Institute of Genetic Metabolic and Endocrine Diseases, Laboratory of Genetic, Endocrine and Metabolic Diseases, Department Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
13. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
14. Pediatric Cardiology and Adults with Congenital Heart Disease, Rambam Medical Center, Haifa, Israel
15. Institute of Genetic Metabolic and Endocrine Diseases, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands - ISSN：1573-7322
文摘
Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes, usually with a lethal outcome. We report on cardiac pathology in nine patients from three unrelated Israeli families, diagnosed with dolichol kinase deficiency, due to novel, homozygous DK1 gene mutations. The cardiac symptoms varied from discrete, mild dilation to overt heart failure with death. Two children died unexpectedly with acute symptoms of heart failure before the diagnosis of DK1-CDG and heart transplantation could take place. Three other affected children with mild dilated cardiomyopathy at the time of the diagnosis deteriorated rapidly, two of them within days after an acute infection. They all went through successful heart transplantation; one died unexpectedly and 2 others are currently (after 1-?years) clinically stable. The other 4 children diagnosed with mild dilated cardiomyopathy are doing well on supportive heart failure therapy. In most cases, the cardiac findings dominated the clinical picture, without central nervous system or multisystem involvement, which is unique in CDG syndrome. We suggest to test for DK1-CDG in patients with dilated cardiomyopathy. Patients with discrete cardiomyopathy may remain stable on supportive treatment while others deteriorate rapidly. Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome.