The heart in Anderson-Fabry disease and other lysosomal storage disorders
Table 1 Lysosomal storage disease causing cardiac disease Disease group and subtypes General manifestations Cardiac manifestations Glycogen storage diseases (lysosomal) Autosomal recessive Massive LVH and RVH, cardiac failure (only in the infantile form) Myopathy, hypotonia, hepatomegaly, macrogloss...
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| description | Table 1 Lysosomal storage disease causing cardiac disease Disease group and subtypes General manifestations Cardiac manifestations Glycogen storage diseases (lysosomal) Autosomal recessive Massive LVH and RVH, cardiac failure (only in the infantile form) Myopathy, hypotonia, hepatomegaly, macroglossia cardiopulmonary failure, Short PR, broad QRS; endomyocardial fibrosis Type IIb (Danon disease, LAMP-2 deficiency) X-linked Hypertrophic cardiomyopathy, isolated cardiac variants, short PR, progressive conduction system disease Myopathy, mental retardation Mucopolysaccharidoses IH (Hurler) Autosomal recessive Valvular involvement (thickening, regurgitation, stenosis); endomyocardial infiltration; interstitial infiltration-fibrosis; hypertrophy; systolic dysfunction-dilated cardiomyopathy (less frequent); coronary artery infiltration-stenosis; aortic stenosis (abdominal); arterial hypertension IS (Scheie) X-linked - MPS II (Hunter) II (Hunter) Dysmorphic features, organomegaly, decreased joint mobility, bone deformities, loss of motor skills, mental retardation, corneal clouding, recurrent otitis or pneumonia, hearing loss III (Sanfilippo) IV (Morquio) VI (Maroteaux-Lamy) VII (Sly) IX (Natowicz) Sphingolipidoses Gaucher disease (β-glucocerebrodiase) Autosomal recessive Pulmonary hypertension, cor pulmonale; pericardial effusion (rare); valvular involvement (rare) Chronic non-neuronopathic (type I) Gaucher cells-lipid laden macrophages Acute (type II) Hepatosplenomegaly, anaemia, thrombocytopenia, bone involvement Chronic neuronopathic (type III) Neurodegeneration (neuronopathic forms) Niemann Pick disease (acid sphingomyelinase) Autosomal recessive Endomyocardial fibrosis (very rare) Type A Early onset, neurological involvement, hypotonia, psychomotor retardation (type A), hepatosplenomegaly, pancytopenia, pulmonary involvement Type B Anderson-Fabry disease (α-galactosidase A) X-linked Cardiac hypertrophy; short PR, progressive conduction system dysfunction, arrhythmias; valvular involvement; coronary involvement (decreased coronary reserve) Multiorgan involvement LVH, left ventricular hypertrophy; RVH, right ventricular hypertrophy. [...]many studies have shown that affected women experience symptoms similar to hemizygous males, albeit in a milder form with a delayed onset and slower progression compared to men; similarly, the frequency of end-stage renal disease is much lower and the median cumulative survival greater (70 years vs 50 years) in women. 1 Dise |
| doi_str_mv | 10.1136/hrt.2005.063818 |
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[...]many studies have shown that affected women experience symptoms similar to hemizygous males, albeit in a milder form with a delayed onset and slower progression compared to men; similarly, the frequency of end-stage renal disease is much lower and the median cumulative survival greater (70 years vs 50 years) in women. 1 Disease expression in female patients is attributed to random X chromosome inactivation and the incapacity of cells expressing the wild-type allele to cross-correct the metabolic defect. 5 Pathogenesis of cardiac disease in AFD Cross-sectional data in patients of different ages suggest that disease evolution in the heart is characterised initially by myocardial hypertrophy; as the disease progresses interstitial abnormalities and replacement myocardial fibrosis become important.</description><identifier>ISSN: 1355-6037</identifier><identifier>EISSN: 1468-201X</identifier><identifier>DOI: 10.1136/hrt.2005.063818</identifier><identifier>PMID: 17401074</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and British Cardiovascular Society</publisher><subject>Anderson-Fabry disease ; Binding sites ; Biological and medical sciences ; Cardiology. Vascular system ; Cardiomyopathy ; Cardiovascular disease ; Chromosomes ; Coronary vessels ; Diagnosis, Differential ; Education in Heart ; Enzymes ; Enzymes - therapeutic use ; Errors of metabolism ; Fabry Disease - complications ; Fabry Disease - pathology ; Fabry Disease - therapy ; Female ; Females ; Heart ; Heart Diseases - etiology ; Heart Diseases - pathology ; Humans ; Intellectual disabilities ; Kidney diseases ; Lipids (lysosomal enzyme disorders, storage diseases) ; LSD ; Lysergic acid diethylamide ; Lysosomal Storage Diseases - complications ; Lysosomal Storage Diseases - pathology ; Lysosomal Storage Diseases - therapy ; lysosomal storage disorders ; Male ; Males ; Medical prognosis ; Medical sciences ; Metabolic diseases ; Metabolism ; Middle Aged ; Mutation ; Protein folding ; Pulmonary hypertension ; Stroke ; Womens health</subject><ispartof>Heart (British Cardiac Society), 2007-04, Vol.93 (4), p.528-535</ispartof><rights>Copyright 2007 by Heart</rights><rights>2007 INIST-CNRS</rights><rights>Copyright: 2007 Copyright 2007 by Heart</rights><rights>Copyright © 2007 BMJ Publishing Group and British Cardiovascular Society.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b634t-2d7f64a9aef71aaae7f8874a995d0ca9a98880dd960e840312205fb66e8250f23</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttp://heart.bmj.com/content/93/4/528.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttp://heart.bmj.com/content/93/4/528.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,230,314,723,776,780,881,3183,23550,27901,27902,53766,53768,77342,77373</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18633232$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17401074$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Linhart, Aleš</creatorcontrib><creatorcontrib>Elliott, Perry M</creatorcontrib><title>The heart in Anderson-Fabry disease and other lysosomal storage disorders</title><title>Heart (British Cardiac Society)</title><addtitle>Heart</addtitle><description>Table 1 Lysosomal storage disease causing cardiac disease Disease group and subtypes General manifestations Cardiac manifestations Glycogen storage diseases (lysosomal) Autosomal recessive Massive LVH and RVH, cardiac failure (only in the infantile form) Myopathy, hypotonia, hepatomegaly, macroglossia cardiopulmonary failure, Short PR, broad QRS; endomyocardial fibrosis Type IIb (Danon disease, LAMP-2 deficiency) X-linked Hypertrophic cardiomyopathy, isolated cardiac variants, short PR, progressive conduction system disease Myopathy, mental retardation Mucopolysaccharidoses IH (Hurler) Autosomal recessive Valvular involvement (thickening, regurgitation, stenosis); endomyocardial infiltration; interstitial infiltration-fibrosis; hypertrophy; systolic dysfunction-dilated cardiomyopathy (less frequent); coronary artery infiltration-stenosis; aortic stenosis (abdominal); arterial hypertension IS (Scheie) X-linked - MPS II (Hunter) II (Hunter) Dysmorphic features, organomegaly, decreased joint mobility, bone deformities, loss of motor skills, mental retardation, corneal clouding, recurrent otitis or pneumonia, hearing loss III (Sanfilippo) IV (Morquio) VI (Maroteaux-Lamy) VII (Sly) IX (Natowicz) Sphingolipidoses Gaucher disease (β-glucocerebrodiase) Autosomal recessive Pulmonary hypertension, cor pulmonale; pericardial effusion (rare); valvular involvement (rare) Chronic non-neuronopathic (type I) Gaucher cells-lipid laden macrophages Acute (type II) Hepatosplenomegaly, anaemia, thrombocytopenia, bone involvement Chronic neuronopathic (type III) Neurodegeneration (neuronopathic forms) Niemann Pick disease (acid sphingomyelinase) Autosomal recessive Endomyocardial fibrosis (very rare) Type A Early onset, neurological involvement, hypotonia, psychomotor retardation (type A), hepatosplenomegaly, pancytopenia, pulmonary involvement Type B Anderson-Fabry disease (α-galactosidase A) X-linked Cardiac hypertrophy; short PR, progressive conduction system dysfunction, arrhythmias; valvular involvement; coronary involvement (decreased coronary reserve) Multiorgan involvement LVH, left ventricular hypertrophy; RVH, right ventricular hypertrophy. [...]many studies have shown that affected women experience symptoms similar to hemizygous males, albeit in a milder form with a delayed onset and slower progression compared to men; similarly, the frequency of end-stage renal disease is much lower and the median cumulative survival greater (70 years vs 50 years) in women. 1 Disease expression in female patients is attributed to random X chromosome inactivation and the incapacity of cells expressing the wild-type allele to cross-correct the metabolic defect. 5 Pathogenesis of cardiac disease in AFD Cross-sectional data in patients of different ages suggest that disease evolution in the heart is characterised initially by myocardial hypertrophy; as the disease progresses interstitial abnormalities and replacement myocardial fibrosis become important.</description><subject>Anderson-Fabry disease</subject><subject>Binding sites</subject><subject>Biological and medical sciences</subject><subject>Cardiology. Vascular system</subject><subject>Cardiomyopathy</subject><subject>Cardiovascular disease</subject><subject>Chromosomes</subject><subject>Coronary vessels</subject><subject>Diagnosis, Differential</subject><subject>Education in Heart</subject><subject>Enzymes</subject><subject>Enzymes - therapeutic use</subject><subject>Errors of metabolism</subject><subject>Fabry Disease - complications</subject><subject>Fabry Disease - pathology</subject><subject>Fabry Disease - therapy</subject><subject>Female</subject><subject>Females</subject><subject>Heart</subject><subject>Heart Diseases - etiology</subject><subject>Heart Diseases - pathology</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Kidney diseases</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>LSD</subject><subject>Lysergic acid diethylamide</subject><subject>Lysosomal Storage Diseases - complications</subject><subject>Lysosomal Storage Diseases - pathology</subject><subject>Lysosomal Storage Diseases - therapy</subject><subject>lysosomal storage disorders</subject><subject>Male</subject><subject>Males</subject><subject>Medical prognosis</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Protein folding</subject><subject>Pulmonary hypertension</subject><subject>Stroke</subject><subject>Womens health</subject><issn>1355-6037</issn><issn>1468-201X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU1v1DAQhi0Eoh9w5oYiIXpAynZsJ7ZzQaoWCoVSLgVxsybJpMmS2MXOIvbfkyirFrhwmtHMM69n_DL2jMOKc6lO2zCuBEC-AiUNNw_YIc-USQXwbw-nXOZ5qkDqA3YU4wYAssKox-yA6ww46OyQXVy3lLSEYUw6l5y5mkL0Lj3HMuySuouEkRJ0deLHlkLS76KPfsA-iaMPeEMz48M89YQ9arCP9HQfj9mX87fX6_fp5ed3F-uzy7RUMhtTUetGZVggNZojIunGGD0ViryGaqoXxhio60IBmQwkFwLyplSKjMihEfKYvV50b7flQHVFbgzY29vQDRh21mNn_-64rrU3_qflRvEc5CRwshcI_seW4miHLlbU9-jIb6PVIIVR2Qy--Afc-G1w03GWawOqgELN1OlCVcHHGKi5W4WDnU2yk0l2NskuJk0Tz_-84J7fuzIBL_cAxgr7JqCrunjPmelZIeevSBeuiyP9uutj-G6Vljq3V1_XVr_59PEqNx_srPtq4cth898tfwMcPbak</recordid><startdate>20070401</startdate><enddate>20070401</enddate><creator>Linhart, Aleš</creator><creator>Elliott, Perry M</creator><general>BMJ Publishing Group Ltd and British Cardiovascular Society</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20070401</creationdate><title>The heart in Anderson-Fabry disease and other lysosomal storage disorders</title><author>Linhart, Aleš ; Elliott, Perry M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b634t-2d7f64a9aef71aaae7f8874a995d0ca9a98880dd960e840312205fb66e8250f23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Anderson-Fabry disease</topic><topic>Binding sites</topic><topic>Biological and medical sciences</topic><topic>Cardiology. Vascular system</topic><topic>Cardiomyopathy</topic><topic>Cardiovascular disease</topic><topic>Chromosomes</topic><topic>Coronary vessels</topic><topic>Diagnosis, Differential</topic><topic>Education in Heart</topic><topic>Enzymes</topic><topic>Enzymes - therapeutic use</topic><topic>Errors of metabolism</topic><topic>Fabry Disease - complications</topic><topic>Fabry Disease - pathology</topic><topic>Fabry Disease - therapy</topic><topic>Female</topic><topic>Females</topic><topic>Heart</topic><topic>Heart Diseases - etiology</topic><topic>Heart Diseases - pathology</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Kidney diseases</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>LSD</topic><topic>Lysergic acid diethylamide</topic><topic>Lysosomal Storage Diseases - complications</topic><topic>Lysosomal Storage Diseases - pathology</topic><topic>Lysosomal Storage Diseases - therapy</topic><topic>lysosomal storage disorders</topic><topic>Male</topic><topic>Males</topic><topic>Medical prognosis</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Protein folding</topic><topic>Pulmonary hypertension</topic><topic>Stroke</topic><topic>Womens health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Linhart, Aleš</creatorcontrib><creatorcontrib>Elliott, Perry M</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Heart (British Cardiac Society)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Linhart, Aleš</au><au>Elliott, Perry M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The heart in Anderson-Fabry disease and other lysosomal storage disorders</atitle><jtitle>Heart (British Cardiac Society)</jtitle><addtitle>Heart</addtitle><date>2007-04-01</date><risdate>2007</risdate><volume>93</volume><issue>4</issue><spage>528</spage><epage>535</epage><pages>528-535</pages><issn>1355-6037</issn><eissn>1468-201X</eissn><abstract>Table 1 Lysosomal storage disease causing cardiac disease Disease group and subtypes General manifestations Cardiac manifestations Glycogen storage diseases (lysosomal) Autosomal recessive Massive LVH and RVH, cardiac failure (only in the infantile form) Myopathy, hypotonia, hepatomegaly, macroglossia cardiopulmonary failure, Short PR, broad QRS; endomyocardial fibrosis Type IIb (Danon disease, LAMP-2 deficiency) X-linked Hypertrophic cardiomyopathy, isolated cardiac variants, short PR, progressive conduction system disease Myopathy, mental retardation Mucopolysaccharidoses IH (Hurler) Autosomal recessive Valvular involvement (thickening, regurgitation, stenosis); endomyocardial infiltration; interstitial infiltration-fibrosis; hypertrophy; systolic dysfunction-dilated cardiomyopathy (less frequent); coronary artery infiltration-stenosis; aortic stenosis (abdominal); arterial hypertension IS (Scheie) X-linked - MPS II (Hunter) II (Hunter) Dysmorphic features, organomegaly, decreased joint mobility, bone deformities, loss of motor skills, mental retardation, corneal clouding, recurrent otitis or pneumonia, hearing loss III (Sanfilippo) IV (Morquio) VI (Maroteaux-Lamy) VII (Sly) IX (Natowicz) Sphingolipidoses Gaucher disease (β-glucocerebrodiase) Autosomal recessive Pulmonary hypertension, cor pulmonale; pericardial effusion (rare); valvular involvement (rare) Chronic non-neuronopathic (type I) Gaucher cells-lipid laden macrophages Acute (type II) Hepatosplenomegaly, anaemia, thrombocytopenia, bone involvement Chronic neuronopathic (type III) Neurodegeneration (neuronopathic forms) Niemann Pick disease (acid sphingomyelinase) Autosomal recessive Endomyocardial fibrosis (very rare) Type A Early onset, neurological involvement, hypotonia, psychomotor retardation (type A), hepatosplenomegaly, pancytopenia, pulmonary involvement Type B Anderson-Fabry disease (α-galactosidase A) X-linked Cardiac hypertrophy; short PR, progressive conduction system dysfunction, arrhythmias; valvular involvement; coronary involvement (decreased coronary reserve) Multiorgan involvement LVH, left ventricular hypertrophy; RVH, right ventricular hypertrophy. [...]many studies have shown that affected women experience symptoms similar to hemizygous males, albeit in a milder form with a delayed onset and slower progression compared to men; similarly, the frequency of end-stage renal disease is much lower and the median cumulative survival greater (70 years vs 50 years) in women. 1 Disease expression in female patients is attributed to random X chromosome inactivation and the incapacity of cells expressing the wild-type allele to cross-correct the metabolic defect. 5 Pathogenesis of cardiac disease in AFD Cross-sectional data in patients of different ages suggest that disease evolution in the heart is characterised initially by myocardial hypertrophy; as the disease progresses interstitial abnormalities and replacement myocardial fibrosis become important.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and British Cardiovascular Society</pub><pmid>17401074</pmid><doi>10.1136/hrt.2005.063818</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Anderson-Fabry disease Binding sites Biological and medical sciences Cardiology. Vascular system Cardiomyopathy Cardiovascular disease Chromosomes Coronary vessels Diagnosis, Differential Education in Heart Enzymes Enzymes - therapeutic use Errors of metabolism Fabry Disease - complications Fabry Disease - pathology Fabry Disease - therapy Female Females Heart Heart Diseases - etiology Heart Diseases - pathology Humans Intellectual disabilities Kidney diseases Lipids (lysosomal enzyme disorders, storage diseases) LSD Lysergic acid diethylamide Lysosomal Storage Diseases - complications Lysosomal Storage Diseases - pathology Lysosomal Storage Diseases - therapy lysosomal storage disorders Male Males Medical prognosis Medical sciences Metabolic diseases Metabolism Middle Aged Mutation Protein folding Pulmonary hypertension Stroke Womens health |
| title | The heart in Anderson-Fabry disease and other lysosomal storage disorders |
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