Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course i...
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| Veröffentlicht in: | Pediatric cardiology 2013-02, Vol.34 (2), p.455-458 |
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| creator | Mahamid, Jamal Lorber, Avraham Horovitz, Yoseph Shalev, Stavit A. Collin, Gayle B. Naggert, Jürgen K. Marshall, Jan D. Spiegel, Ronen |
| description | Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the
ALMS1
gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease. |
| doi_str_mv | 10.1007/s00246-012-0296-6 |
| format | Article |
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ALMS1
gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease.</description><identifier>ISSN: 0172-0643</identifier><identifier>EISSN: 1432-1971</identifier><identifier>DOI: 10.1007/s00246-012-0296-6</identifier><identifier>PMID: 22447358</identifier><language>eng</language><publisher>New York: Springer-Verlag</publisher><subject>Alstrom Syndrome - complications ; Alstrom Syndrome - diagnosis ; Alstrom Syndrome - genetics ; Cardiac Surgery ; Cardiology ; Cardiomyopathy, Dilated ; Cardiomyopathy, Dilated - diagnosis ; Cardiomyopathy, Dilated - etiology ; Cardiomyopathy, Dilated - genetics ; Case Report ; Child, Preschool ; Codon, Nonsense ; Development and progression ; DNA - genetics ; DNA Mutational Analysis ; Echocardiography ; Furosemide ; Genetic aspects ; Heart ; Homozygote ; Humans ; Male ; Medicine ; Medicine & Public Health ; Proteins - genetics ; Respiratory tract diseases ; Siblings ; Type 2 diabetes ; Vascular Surgery</subject><ispartof>Pediatric cardiology, 2013-02, Vol.34 (2), p.455-458</ispartof><rights>Springer Science+Business Media, LLC 2012</rights><rights>COPYRIGHT 2013 Springer</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c509t-5786c4485279f87690edb594c28ba003df167da7798008d6f29f04cb4a69b63f3</citedby><cites>FETCH-LOGICAL-c509t-5786c4485279f87690edb594c28ba003df167da7798008d6f29f04cb4a69b63f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00246-012-0296-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00246-012-0296-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22447358$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mahamid, Jamal</creatorcontrib><creatorcontrib>Lorber, Avraham</creatorcontrib><creatorcontrib>Horovitz, Yoseph</creatorcontrib><creatorcontrib>Shalev, Stavit A.</creatorcontrib><creatorcontrib>Collin, Gayle B.</creatorcontrib><creatorcontrib>Naggert, Jürgen K.</creatorcontrib><creatorcontrib>Marshall, Jan D.</creatorcontrib><creatorcontrib>Spiegel, Ronen</creatorcontrib><title>Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome</title><title>Pediatric cardiology</title><addtitle>Pediatr Cardiol</addtitle><addtitle>Pediatr Cardiol</addtitle><description>Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the
ALMS1
gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease.</description><subject>Alstrom Syndrome - complications</subject><subject>Alstrom Syndrome - diagnosis</subject><subject>Alstrom Syndrome - genetics</subject><subject>Cardiac Surgery</subject><subject>Cardiology</subject><subject>Cardiomyopathy, Dilated</subject><subject>Cardiomyopathy, Dilated - diagnosis</subject><subject>Cardiomyopathy, Dilated - etiology</subject><subject>Cardiomyopathy, Dilated - genetics</subject><subject>Case Report</subject><subject>Child, Preschool</subject><subject>Codon, Nonsense</subject><subject>Development and progression</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Echocardiography</subject><subject>Furosemide</subject><subject>Genetic aspects</subject><subject>Heart</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Proteins - genetics</subject><subject>Respiratory tract diseases</subject><subject>Siblings</subject><subject>Type 2 diabetes</subject><subject>Vascular Surgery</subject><issn>0172-0643</issn><issn>1432-1971</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kd9qFDEYxYModl19AG8k4I03U5NMJn9uhGVtVSh40apXEjKZZDclk6zJrHZezBfwxcyytVgQyUUg53dOvo8DwHOMTjFC_HVBiFDWIEwaRCRr2AOwwLQlDZYcPwQLhHlVGG1PwJNSrhFCAonuMTghhFLedmIBvp7dTNmOFq6Dj97oAD_r7HXvg59mmBx864Oe7ADXOg8-jXPa6Wk7Qx_h1Y8EL31ffZsCv_hpC1ehTPnXzxFeznHIabRPwSOnQ7HPbu8l-HR-drV-31x8fPdhvbpoTIfk1HRcMEOp6AiXTnAmkR36TlJDRK8RageHGR8051LUFQbmiHSImp5qJnvWunYJ3hxzd_t-tIOxcco6qF32o86zStqr-0r0W7VJ31VbM1n9YQle3Qbk9G1vy6RGX4wNQUeb9kVhIoSURCBW0ZdHdKODVT66VBPNAVcrjruOtKTjlTr9B1XPYEdvUrTO1_d7Bnw0mJxKydbdTY-ROrStjm2r2rY6tK0Oo7z4e-07x596K0COQKlS3NisrtM-x1rFf1J_AxCrtSw</recordid><startdate>20130201</startdate><enddate>20130201</enddate><creator>Mahamid, Jamal</creator><creator>Lorber, Avraham</creator><creator>Horovitz, Yoseph</creator><creator>Shalev, Stavit A.</creator><creator>Collin, Gayle B.</creator><creator>Naggert, Jürgen K.</creator><creator>Marshall, Jan D.</creator><creator>Spiegel, Ronen</creator><general>Springer-Verlag</general><general>Springer</general><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><scope>5PM</scope></search><sort><creationdate>20130201</creationdate><title>Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome</title><author>Mahamid, Jamal ; Lorber, Avraham ; Horovitz, Yoseph ; Shalev, Stavit A. ; Collin, Gayle B. ; Naggert, Jürgen K. ; Marshall, Jan D. ; Spiegel, Ronen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c509t-5786c4485279f87690edb594c28ba003df167da7798008d6f29f04cb4a69b63f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Alstrom Syndrome - complications</topic><topic>Alstrom Syndrome - diagnosis</topic><topic>Alstrom Syndrome - genetics</topic><topic>Cardiac Surgery</topic><topic>Cardiology</topic><topic>Cardiomyopathy, Dilated</topic><topic>Cardiomyopathy, Dilated - diagnosis</topic><topic>Cardiomyopathy, Dilated - etiology</topic><topic>Cardiomyopathy, Dilated - genetics</topic><topic>Case Report</topic><topic>Child, Preschool</topic><topic>Codon, Nonsense</topic><topic>Development and progression</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Echocardiography</topic><topic>Furosemide</topic><topic>Genetic aspects</topic><topic>Heart</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Proteins - genetics</topic><topic>Respiratory tract diseases</topic><topic>Siblings</topic><topic>Type 2 diabetes</topic><topic>Vascular Surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mahamid, Jamal</creatorcontrib><creatorcontrib>Lorber, Avraham</creatorcontrib><creatorcontrib>Horovitz, Yoseph</creatorcontrib><creatorcontrib>Shalev, Stavit A.</creatorcontrib><creatorcontrib>Collin, Gayle B.</creatorcontrib><creatorcontrib>Naggert, Jürgen K.</creatorcontrib><creatorcontrib>Marshall, Jan D.</creatorcontrib><creatorcontrib>Spiegel, Ronen</creatorcontrib><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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Pediatric cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mahamid, Jamal</au><au>Lorber, Avraham</au><au>Horovitz, Yoseph</au><au>Shalev, Stavit A.</au><au>Collin, Gayle B.</au><au>Naggert, Jürgen K.</au><au>Marshall, Jan D.</au><au>Spiegel, Ronen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome</atitle><jtitle>Pediatric cardiology</jtitle><stitle>Pediatr Cardiol</stitle><addtitle>Pediatr Cardiol</addtitle><date>2013-02-01</date><risdate>2013</risdate><volume>34</volume><issue>2</issue><spage>455</spage><epage>458</epage><pages>455-458</pages><issn>0172-0643</issn><eissn>1432-1971</eissn><abstract>Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the
ALMS1
gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease.</abstract><cop>New York</cop><pub>Springer-Verlag</pub><pmid>22447358</pmid><doi>10.1007/s00246-012-0296-6</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Alstrom Syndrome - complications Alstrom Syndrome - diagnosis Alstrom Syndrome - genetics Cardiac Surgery Cardiology Cardiomyopathy, Dilated Cardiomyopathy, Dilated - diagnosis Cardiomyopathy, Dilated - etiology Cardiomyopathy, Dilated - genetics Case Report Child, Preschool Codon, Nonsense Development and progression DNA - genetics DNA Mutational Analysis Echocardiography Furosemide Genetic aspects Heart Homozygote Humans Male Medicine Medicine & Public Health Proteins - genetics Respiratory tract diseases Siblings Type 2 diabetes Vascular Surgery |
| title | Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome |
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