Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy is usually caused by mutations in sarcomere proteins, but in some patients such mutations are not found. This study identified mutations in genes encoding enzymes involved in glycogen metabolism as causes of hypertrophic cardiomyopathy. Thus, glycogen storage diseases may...
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| Published in | The New England journal of medicine Vol. 352; no. 4; pp. 362 - 372 |
|---|---|
| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Boston, MA
Massachusetts Medical Society
27.01.2005
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0028-4793 1533-4406 1533-4406 |
| DOI | 10.1056/NEJMoa033349 |
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| Abstract | Hypertrophic cardiomyopathy is usually caused by mutations in sarcomere proteins, but in some patients such mutations are not found. This study identified mutations in genes encoding enzymes involved in glycogen metabolism as causes of hypertrophic cardiomyopathy. Thus, glycogen storage diseases may sometimes present as hypertrophic cardiomyopathy, owing to accumulation of glycogen-filled vacuoles in myocytes.
This study identified mutations in genes encoding enzymes involved in glycogen metabolism as causes of hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy, an autosomal dominant disorder associated with increased morbidity and premature mortality, is traditionally diagnosed on the basis of increased cardiac mass with histopathological findings of myocyte enlargement, myocyte disarray, and cardiac fibrosis.
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However, given the availability of sophisticated noninvasive imaging techniques, an echocardiographic demonstration of unexplained left ventricular hypertrophy constitutes the current basis for a diagnosis of hypertrophic cardiomyopathy.
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Echocardiography has shown that there is considerable diversity in the manifestations of hypertrophic cardiomyopathy, including variable age at onset, from early childhood to late adulthood, and severity of left ventricular hypertrophy. Left ventricular wall thickness in hypertrophic cardiomyopathy . . . |
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| AbstractList | Hypertrophic cardiomyopathy is usually caused by mutations in sarcomere proteins, but in some patients such mutations are not found. This study identified mutations in genes encoding enzymes involved in glycogen metabolism as causes of hypertrophic cardiomyopathy. Thus, glycogen storage diseases may sometimes present as hypertrophic cardiomyopathy, owing to accumulation of glycogen-filled vacuoles in myocytes.
This study identified mutations in genes encoding enzymes involved in glycogen metabolism as causes of hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy, an autosomal dominant disorder associated with increased morbidity and premature mortality, is traditionally diagnosed on the basis of increased cardiac mass with histopathological findings of myocyte enlargement, myocyte disarray, and cardiac fibrosis.
1
–
3
However, given the availability of sophisticated noninvasive imaging techniques, an echocardiographic demonstration of unexplained left ventricular hypertrophy constitutes the current basis for a diagnosis of hypertrophic cardiomyopathy.
3
Echocardiography has shown that there is considerable diversity in the manifestations of hypertrophic cardiomyopathy, including variable age at onset, from early childhood to late adulthood, and severity of left ventricular hypertrophy. Left ventricular wall thickness in hypertrophic cardiomyopathy . . . Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism. Genetic analyses performed in 75 consecutive unrelated patients with hypertrophic cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2, lysosome-associated membrane protein 2 (LAMP2), alpha-galactosidase (GLA), and acid alpha-1,4-glucosidase (GAA) genes were studied. Gene defects causing Fabry's disease (GLA) and Pompe's disease (GAA) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy (left ventricular wall thickness, > or =30 mm) but without electrophysiological abnormalities revealed mutations in neither LAMP2 nor PRKAG2. Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins. LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation. Background Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase γ2 (PRKAG2 ) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism. Methods Genetic analyses performed in 75 consecutive unrelated patients with hypertrophic cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2, lysosome-associated membrane protein 2 (LAMP2 ), α-galactosidase (GLA ), and acid α-1,4-glucosidase (GAA ) genes were studied. Results Gene defects causing Fabry's disease (GLA ) and Pompe's disease (GAA ) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy (left ventricular wall thickness, ≥30 mm) but without electrophysiological abnormalities revealed mutations in neither LAMP2 nor PRKAG2 . Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins. Conclusions LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation. Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.BACKGROUNDUnexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.Genetic analyses performed in 75 consecutive unrelated patients with hypertrophic cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2, lysosome-associated membrane protein 2 (LAMP2), alpha-galactosidase (GLA), and acid alpha-1,4-glucosidase (GAA) genes were studied.METHODSGenetic analyses performed in 75 consecutive unrelated patients with hypertrophic cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2, lysosome-associated membrane protein 2 (LAMP2), alpha-galactosidase (GLA), and acid alpha-1,4-glucosidase (GAA) genes were studied.Gene defects causing Fabry's disease (GLA) and Pompe's disease (GAA) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy (left ventricular wall thickness, > or =30 mm) but without electrophysiological abnormalities revealed mutations in neither LAMP2 nor PRKAG2. Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins.RESULTSGene defects causing Fabry's disease (GLA) and Pompe's disease (GAA) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy (left ventricular wall thickness, > or =30 mm) but without electrophysiological abnormalities revealed mutations in neither LAMP2 nor PRKAG2. Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins.LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation.CONCLUSIONSLAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation. |
| Author | Seidman, Christine E Perez-Atayde, Antonio R Saul, J. Philip Maron, Barry J Kanter, Ronald J Spirito, Paolo Wright, Gregory B Seidman, J.G Gorham, Joshua M Johnson, Walter H Arad, Michael |
| Author_xml | – sequence: 1 givenname: Michael surname: Arad fullname: Arad, Michael – sequence: 2 givenname: Barry J surname: Maron fullname: Maron, Barry J – sequence: 3 givenname: Joshua M surname: Gorham fullname: Gorham, Joshua M – sequence: 4 givenname: Walter H surname: Johnson fullname: Johnson, Walter H – sequence: 5 givenname: J. Philip surname: Saul fullname: Saul, J. Philip – sequence: 6 givenname: Antonio R surname: Perez-Atayde fullname: Perez-Atayde, Antonio R – sequence: 7 givenname: Paolo surname: Spirito fullname: Spirito, Paolo – sequence: 8 givenname: Gregory B surname: Wright fullname: Wright, Gregory B – sequence: 9 givenname: Ronald J surname: Kanter fullname: Kanter, Ronald J – sequence: 10 givenname: J.G surname: Seidman fullname: Seidman, J.G – sequence: 10 givenname: Christine E surname: Seidman fullname: Seidman, Christine E |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16440192$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/15673802$$D View this record in MEDLINE/PubMed |
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| CODEN | NEJMAG |
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| Cites_doi | 10.1056/NEJM199508033330504 10.1016/S0140-6736(00)02533-2 10.1016/S0962-8924(03)00005-9 10.1161/01.CIR.0000012626.81324.38 10.1056/NEJM200006153422403 10.1172/JCI14571 10.1056/NEJM199912023412302 10.1212/WNL.58.12.1773 10.1016/S0733-8619(05)70182-1 10.1212/WNL.31.1.51 10.1038/35022604 10.1101/sqb.2002.67.383 10.1016/S0735-1097(03)00941-0 10.1093/hmg/10.11.1215 10.1056/NEJM199703133361107 10.1161/01.CIR.0000075270.13497.2B 10.1016/S0735-1097(03)00850-7 10.1007/s004390100505 10.1056/NEJMra022783 10.1161/hc4301.097430 10.1056/NEJM199804303381802 10.1001/jama.287.10.1308 10.1161/01.CIR.92.9.2748 10.1016/S0092-8674(01)00242-2 10.1056/NEJM200106143442403 |
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| Keywords | Medicine Glycogenosis Heart disease Hypertrophic cardiomyopathy Cardiovascular disease Metabolic diseases Carbohydrate Enzymopathy Myocardial disease Inaugural sign Genetic disease |
| Language | English |
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| Snippet | Hypertrophic cardiomyopathy is usually caused by mutations in sarcomere proteins, but in some patients such mutations are not found. This study identified... Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in... Background Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because... |
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| SubjectTerms | Adolescent Adult Aged Algorithms AMP-Activated Protein Kinases Antigens, CD - genetics Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Cardiomyopathy, Hypertrophic - etiology Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology Cardiomyopathy, Hypertrophic - physiopathology Child Diagnosis, Differential Electrocardiography Errors of metabolism Fabry Disease - genetics Female General aspects Glycogen - metabolism Glycogen Storage Disease - complications Glycogen Storage Disease - diagnosis Glycogen Storage Disease - genetics Glycogen Storage Disease Type II - complications Glycogen Storage Disease Type II - genetics Humans Hypertrophy, Left Ventricular - etiology Kinases Lysosomal Membrane Proteins Lysosomal-Associated Membrane Protein 2 Male Medical sciences Metabolic diseases Middle Aged Multienzyme Complexes - genetics Mutation Myocardium - pathology Pedigree Protein Serine-Threonine Kinases - genetics Proteins |
| Title | Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy |
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