New insights in cardiac structural changes in patients with Fabry’s disease
Background Fabry’s disease is an X-linked recessive genetic deficiency of the enzyme α-galactosidase leading to the pathologic intracellular deposition of neutral glycosphingolipids. Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventric...
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| Veröffentlicht in: | The American heart journal 2000-06, Vol.139 (6), p.1101-1108 |
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| creator | Linhart, Aleš Paleček, Tomáš Bultas, Jan Ferguson, James J. Hrudová, Jana Karetová, Debora Zeman, Jiři Ledvinová, Jana Poupětová, Helena Elleder, Milan Aschermann, Michael |
| description | Background Fabry’s disease is an X-linked recessive genetic deficiency of the enzyme α-galactosidase leading to the pathologic intracellular deposition of neutral glycosphingolipids. Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular involvement. Methods Clinical evaluation (disease severity scaling, laboratory tests, and echocardiography) was performed in 13 hemizygous men (mean age 39 ± 10 years) and 17 heterozygous women (mean age 35 ± 19 years). Results LV hypertrophy (LVH) was frequent in subjects older than 30 years, more often in men (61%) than in women (18%, P |
| doi_str_mv | 10.1067/mhj.2000.105105 |
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Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular involvement. Methods Clinical evaluation (disease severity scaling, laboratory tests, and echocardiography) was performed in 13 hemizygous men (mean age 39 ± 10 years) and 17 heterozygous women (mean age 35 ± 19 years). Results LV hypertrophy (LVH) was frequent in subjects older than 30 years, more often in men (61%) than in women (18%, P <.001). The degree of LVH was independently associated with age and the logarithm of α-galactosidase activity (r2 = 0.70, P <.001). The predominant LV geometric patterns were concentric LVH and remodeling, both present in 11 subjects (36%). Three patients had an asymmetric septal hypertrophy mimicking hypertrophic cardiomyopathy. In most subjects with LVH, the systolic function was normal and severe diastolic dysfunction (restrictive pattern) was not noted. Minor structural abnormalities of the mitral valve were found in 17 subjects (57%). The aortic valve was affected in 14 patients (47%). Valvular abnormalities were frequently accompanied by regurgitation of minor to mild degree. The presence of LVH or valvular changes was associated with increased disease severity. Conclusions Echocardiographically detectable cardiac involvement is frequent with Fabry’s disease, particularly in older subjects, and more pronounced in affected hemizygous men than in heterozygous women. LVH is frequently observed but usually not associated with significant systolic or restrictive diastolic dysfunction. Concentric LVH and remodeling appear to be the major manifestations of LV structural alteration. The frequently noted valvular abnormalities were not associated with a significant degree of regurgitation. Valvular and especially LV structural changes may serve as a useful marker of disease severity. (Am Heart J 2000;139:1101-8.)</description><identifier>ISSN: 0002-8703</identifier><identifier>EISSN: 1097-6744</identifier><identifier>DOI: 10.1067/mhj.2000.105105</identifier><identifier>PMID: 10827394</identifier><identifier>CODEN: AHJOA2</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adolescent ; Adult ; alpha-Galactosidase - blood ; Biological and medical sciences ; Biomarkers - blood ; Biomarkers - urine ; Biopsy ; Diagnosis, Differential ; Echocardiography ; Electrocardiography ; Errors of metabolism ; Fabry Disease - complications ; Fabry Disease - diagnosis ; Fabry Disease - enzymology ; Fabry Disease - genetics ; Female ; Genotype ; Glycosphingolipids - urine ; Heart Valves - diagnostic imaging ; Heart Valves - ultrastructure ; Heart Ventricles - diagnostic imaging ; Heart Ventricles - pathology ; Heart Ventricles - physiopathology ; Humans ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical sciences ; Metabolic diseases ; Middle Aged ; Myocardial Contraction ; Retrospective Studies ; Severity of Illness Index ; Sex Characteristics ; Ventricular Dysfunction, Left - diagnosis ; Ventricular Dysfunction, Left - etiology ; Ventricular Dysfunction, Left - physiopathology</subject><ispartof>The American heart journal, 2000-06, Vol.139 (6), p.1101-1108</ispartof><rights>2000 Mosby, Inc.</rights><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c444t-a23186f73a99b0c5a82cbbe77b8f5121a14eb5a2cfad3b2d7ce8aa504bbec3673</citedby><cites>FETCH-LOGICAL-c444t-a23186f73a99b0c5a82cbbe77b8f5121a14eb5a2cfad3b2d7ce8aa504bbec3673</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1067/mhj.2000.105105$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1386533$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10827394$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Linhart, Aleš</creatorcontrib><creatorcontrib>Paleček, Tomáš</creatorcontrib><creatorcontrib>Bultas, Jan</creatorcontrib><creatorcontrib>Ferguson, James J.</creatorcontrib><creatorcontrib>Hrudová, Jana</creatorcontrib><creatorcontrib>Karetová, Debora</creatorcontrib><creatorcontrib>Zeman, Jiři</creatorcontrib><creatorcontrib>Ledvinová, Jana</creatorcontrib><creatorcontrib>Poupětová, Helena</creatorcontrib><creatorcontrib>Elleder, Milan</creatorcontrib><creatorcontrib>Aschermann, Michael</creatorcontrib><title>New insights in cardiac structural changes in patients with Fabry’s disease</title><title>The American heart journal</title><addtitle>Am Heart J</addtitle><description>Background Fabry’s disease is an X-linked recessive genetic deficiency of the enzyme α-galactosidase leading to the pathologic intracellular deposition of neutral glycosphingolipids. Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular involvement. Methods Clinical evaluation (disease severity scaling, laboratory tests, and echocardiography) was performed in 13 hemizygous men (mean age 39 ± 10 years) and 17 heterozygous women (mean age 35 ± 19 years). Results LV hypertrophy (LVH) was frequent in subjects older than 30 years, more often in men (61%) than in women (18%, P <.001). The degree of LVH was independently associated with age and the logarithm of α-galactosidase activity (r2 = 0.70, P <.001). The predominant LV geometric patterns were concentric LVH and remodeling, both present in 11 subjects (36%). Three patients had an asymmetric septal hypertrophy mimicking hypertrophic cardiomyopathy. In most subjects with LVH, the systolic function was normal and severe diastolic dysfunction (restrictive pattern) was not noted. Minor structural abnormalities of the mitral valve were found in 17 subjects (57%). The aortic valve was affected in 14 patients (47%). Valvular abnormalities were frequently accompanied by regurgitation of minor to mild degree. The presence of LVH or valvular changes was associated with increased disease severity. Conclusions Echocardiographically detectable cardiac involvement is frequent with Fabry’s disease, particularly in older subjects, and more pronounced in affected hemizygous men than in heterozygous women. LVH is frequently observed but usually not associated with significant systolic or restrictive diastolic dysfunction. Concentric LVH and remodeling appear to be the major manifestations of LV structural alteration. The frequently noted valvular abnormalities were not associated with a significant degree of regurgitation. Valvular and especially LV structural changes may serve as a useful marker of disease severity. (Am Heart J 2000;139:1101-8.)</description><subject>Adolescent</subject><subject>Adult</subject><subject>alpha-Galactosidase - blood</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - blood</subject><subject>Biomarkers - urine</subject><subject>Biopsy</subject><subject>Diagnosis, Differential</subject><subject>Echocardiography</subject><subject>Electrocardiography</subject><subject>Errors of metabolism</subject><subject>Fabry Disease - complications</subject><subject>Fabry Disease - diagnosis</subject><subject>Fabry Disease - enzymology</subject><subject>Fabry Disease - genetics</subject><subject>Female</subject><subject>Genotype</subject><subject>Glycosphingolipids - urine</subject><subject>Heart Valves - diagnostic imaging</subject><subject>Heart Valves - ultrastructure</subject><subject>Heart Ventricles - diagnostic imaging</subject><subject>Heart Ventricles - pathology</subject><subject>Heart Ventricles - physiopathology</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Myocardial Contraction</subject><subject>Retrospective Studies</subject><subject>Severity of Illness Index</subject><subject>Sex Characteristics</subject><subject>Ventricular Dysfunction, Left - diagnosis</subject><subject>Ventricular Dysfunction, Left - etiology</subject><subject>Ventricular Dysfunction, Left - physiopathology</subject><issn>0002-8703</issn><issn>1097-6744</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kM1O3EAMgEeoCLa0596qHCpugflJMpMjQvxUonBpzyPHcdhB2ex2nIC48Rp9vT4Js81K5YJkybb82bI-Ib4oeaJkZU9Xy4cTLeW2K1PsiYWStc0rWxQfxCINdO6sNIfiI_NDaivtqgNxqKTT1tTFQvy4pacsDBzulyOnIkOIbQDMeIwTjlOEPsMlDPf0b7qBMdCQyKcwLrNLaOLz35c_nLWBCZg-if0OeqbPu3wkfl1e_Dy_zm_urr6fn93kWBTFmIM2ylWdNVDXjcQSnMamIWsb15VKK1AFNSVo7KA1jW4tkgMoZZEgNJU1R-J4vruJ698T8ehXgZH6HgZaT-ytUsbVyiXwdAYxrpkjdX4Twwris1fSbw36ZNBvDfrZYNr4ujs9NStq3_CzsgR82wHACH0XYcDA_znjqtKYhNUzRsnDY6DoGZM6pDZEwtG36_DuD69-Uo3h</recordid><startdate>20000601</startdate><enddate>20000601</enddate><creator>Linhart, Aleš</creator><creator>Paleček, Tomáš</creator><creator>Bultas, Jan</creator><creator>Ferguson, James J.</creator><creator>Hrudová, Jana</creator><creator>Karetová, Debora</creator><creator>Zeman, Jiři</creator><creator>Ledvinová, Jana</creator><creator>Poupětová, Helena</creator><creator>Elleder, Milan</creator><creator>Aschermann, Michael</creator><general>Elsevier Inc</general><general>Elsevier</general><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>7X8</scope></search><sort><creationdate>20000601</creationdate><title>New insights in cardiac structural changes in patients with Fabry’s disease</title><author>Linhart, Aleš ; Paleček, Tomáš ; Bultas, Jan ; Ferguson, James J. ; Hrudová, Jana ; Karetová, Debora ; Zeman, Jiři ; Ledvinová, Jana ; Poupětová, Helena ; Elleder, Milan ; Aschermann, Michael</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c444t-a23186f73a99b0c5a82cbbe77b8f5121a14eb5a2cfad3b2d7ce8aa504bbec3673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>alpha-Galactosidase - blood</topic><topic>Biological and medical sciences</topic><topic>Biomarkers - blood</topic><topic>Biomarkers - urine</topic><topic>Biopsy</topic><topic>Diagnosis, Differential</topic><topic>Echocardiography</topic><topic>Electrocardiography</topic><topic>Errors of metabolism</topic><topic>Fabry Disease - complications</topic><topic>Fabry Disease - diagnosis</topic><topic>Fabry Disease - enzymology</topic><topic>Fabry Disease - genetics</topic><topic>Female</topic><topic>Genotype</topic><topic>Glycosphingolipids - urine</topic><topic>Heart Valves - diagnostic imaging</topic><topic>Heart Valves - ultrastructure</topic><topic>Heart Ventricles - diagnostic imaging</topic><topic>Heart Ventricles - pathology</topic><topic>Heart Ventricles - physiopathology</topic><topic>Humans</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Myocardial Contraction</topic><topic>Retrospective Studies</topic><topic>Severity of Illness Index</topic><topic>Sex Characteristics</topic><topic>Ventricular Dysfunction, Left - diagnosis</topic><topic>Ventricular Dysfunction, Left - etiology</topic><topic>Ventricular Dysfunction, Left - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Linhart, Aleš</creatorcontrib><creatorcontrib>Paleček, Tomáš</creatorcontrib><creatorcontrib>Bultas, Jan</creatorcontrib><creatorcontrib>Ferguson, James J.</creatorcontrib><creatorcontrib>Hrudová, Jana</creatorcontrib><creatorcontrib>Karetová, Debora</creatorcontrib><creatorcontrib>Zeman, Jiři</creatorcontrib><creatorcontrib>Ledvinová, Jana</creatorcontrib><creatorcontrib>Poupětová, Helena</creatorcontrib><creatorcontrib>Elleder, Milan</creatorcontrib><creatorcontrib>Aschermann, Michael</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>The American heart journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Linhart, Aleš</au><au>Paleček, Tomáš</au><au>Bultas, Jan</au><au>Ferguson, James J.</au><au>Hrudová, Jana</au><au>Karetová, Debora</au><au>Zeman, Jiři</au><au>Ledvinová, Jana</au><au>Poupětová, Helena</au><au>Elleder, Milan</au><au>Aschermann, Michael</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>New insights in cardiac structural changes in patients with Fabry’s disease</atitle><jtitle>The American heart journal</jtitle><addtitle>Am Heart J</addtitle><date>2000-06-01</date><risdate>2000</risdate><volume>139</volume><issue>6</issue><spage>1101</spage><epage>1108</epage><pages>1101-1108</pages><issn>0002-8703</issn><eissn>1097-6744</eissn><coden>AHJOA2</coden><abstract>Background Fabry’s disease is an X-linked recessive genetic deficiency of the enzyme α-galactosidase leading to the pathologic intracellular deposition of neutral glycosphingolipids. Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular involvement. Methods Clinical evaluation (disease severity scaling, laboratory tests, and echocardiography) was performed in 13 hemizygous men (mean age 39 ± 10 years) and 17 heterozygous women (mean age 35 ± 19 years). Results LV hypertrophy (LVH) was frequent in subjects older than 30 years, more often in men (61%) than in women (18%, P <.001). The degree of LVH was independently associated with age and the logarithm of α-galactosidase activity (r2 = 0.70, P <.001). The predominant LV geometric patterns were concentric LVH and remodeling, both present in 11 subjects (36%). Three patients had an asymmetric septal hypertrophy mimicking hypertrophic cardiomyopathy. In most subjects with LVH, the systolic function was normal and severe diastolic dysfunction (restrictive pattern) was not noted. Minor structural abnormalities of the mitral valve were found in 17 subjects (57%). The aortic valve was affected in 14 patients (47%). Valvular abnormalities were frequently accompanied by regurgitation of minor to mild degree. The presence of LVH or valvular changes was associated with increased disease severity. Conclusions Echocardiographically detectable cardiac involvement is frequent with Fabry’s disease, particularly in older subjects, and more pronounced in affected hemizygous men than in heterozygous women. LVH is frequently observed but usually not associated with significant systolic or restrictive diastolic dysfunction. Concentric LVH and remodeling appear to be the major manifestations of LV structural alteration. The frequently noted valvular abnormalities were not associated with a significant degree of regurgitation. Valvular and especially LV structural changes may serve as a useful marker of disease severity. (Am Heart J 2000;139:1101-8.)</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>10827394</pmid><doi>10.1067/mhj.2000.105105</doi><tpages>8</tpages></addata></record> |
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| subjects | Adolescent Adult alpha-Galactosidase - blood Biological and medical sciences Biomarkers - blood Biomarkers - urine Biopsy Diagnosis, Differential Echocardiography Electrocardiography Errors of metabolism Fabry Disease - complications Fabry Disease - diagnosis Fabry Disease - enzymology Fabry Disease - genetics Female Genotype Glycosphingolipids - urine Heart Valves - diagnostic imaging Heart Valves - ultrastructure Heart Ventricles - diagnostic imaging Heart Ventricles - pathology Heart Ventricles - physiopathology Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Middle Aged Myocardial Contraction Retrospective Studies Severity of Illness Index Sex Characteristics Ventricular Dysfunction, Left - diagnosis Ventricular Dysfunction, Left - etiology Ventricular Dysfunction, Left - physiopathology |
| title | New insights in cardiac structural changes in patients with Fabry’s disease |
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