Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies
Abstract We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and ca...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2008-06, Vol.18 (6), p.475-482 |
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| creator | Strach, Katharina Sommer, Torsten Grohé, Christian Meyer, Carsten Fischer, Dirk Walter, Maggie C Vorgerd, Matthias Reilich, Peter Bär, Harald Reimann, Jens Reuner, Ulrike Germing, Alfried Goebel, Hans Hilmar Lochmüller, Hanns Wintersperger, Bernd Schröder, Rolf |
| description | Abstract We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy. |
| doi_str_mv | 10.1016/j.nmd.2008.03.012 |
| format | Article |
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Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. 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Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Cardiac magnetic resonance imaging</subject><subject>Cardiomyopathy</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Cardiomyopathy, Hypertrophic - metabolism</subject><subject>Cardiomyopathy, Hypertrophic - pathology</subject><subject>Congenital myopathy</subject><subject>Desmin - deficiency</subject><subject>Desminopathy</subject><subject>Echocardiography - methods</subject><subject>Electrocardiography</subject><subject>Female</subject><subject>Gadolinium DTPA</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Middle Aged</subject><subject>MR delayed enhancement imaging</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Muscle, Skeletal - pathology</subject><subject>Myocardium - metabolism</subject><subject>Myocardium - pathology</subject><subject>Neurology</subject><subject>Tomography, X-Ray Computed</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUuLFDEUhYMoTjv6A9xIVq6mam4enaQQhKHxMTDgYsadENLJrTZtVapNqoX596btAsGFqwuHcw7Jdwh5zaBlwNT1vk1jaDmAaUG0wPgTsmJGi4YLJZ-SFXQKGtMpdUFelLIHYGut9HNywcwaJONmRb5thpiid8MV3WHCOfor6lKg3uUQnaej2_1RacYyJZc80li1mHa0jynUW2hM9JCrmh9pwDLGNB3c_D1ieUme9W4o-Gq5l-Trxw8Pm8_N3ZdPt5ubu8ZLUHMjtAxacRVwzV2vu3XnlNK99NwI33kl_JZ5DUIKrpUD1cFW9pJvg3PGGQnikrw99x7y9POIZbZjLB6HwSWcjsWqjstOKF2N7Gz0eSolY2-Xh1sG9oTU7m1Fak9ILQhbkdbMm6X8uB0x_E0sDKvh3dmA9Yu_ImZbfMRKKsSMfrZhiv-tf_9P2i-L_MBHLPvpmFNlZ5kt3IK9P216mhQMAGgG4jfH8Ju-</recordid><startdate>20080601</startdate><enddate>20080601</enddate><creator>Strach, Katharina</creator><creator>Sommer, Torsten</creator><creator>Grohé, Christian</creator><creator>Meyer, Carsten</creator><creator>Fischer, Dirk</creator><creator>Walter, Maggie C</creator><creator>Vorgerd, Matthias</creator><creator>Reilich, Peter</creator><creator>Bär, Harald</creator><creator>Reimann, Jens</creator><creator>Reuner, Ulrike</creator><creator>Germing, Alfried</creator><creator>Goebel, Hans Hilmar</creator><creator>Lochmüller, Hanns</creator><creator>Wintersperger, Bernd</creator><creator>Schröder, Rolf</creator><general>Elsevier B.V</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></search><sort><creationdate>20080601</creationdate><title>Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies</title><author>Strach, Katharina ; Sommer, Torsten ; Grohé, Christian ; Meyer, Carsten ; Fischer, Dirk ; Walter, Maggie C ; Vorgerd, Matthias ; Reilich, Peter ; Bär, Harald ; Reimann, Jens ; Reuner, Ulrike ; Germing, Alfried ; Goebel, Hans Hilmar ; Lochmüller, Hanns ; Wintersperger, Bernd ; Schröder, Rolf</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c406t-374d7626de52af7959a667f4c283c9c63cb1c70343276a0690b4f42bdaa8a8403</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Cardiac magnetic resonance imaging</topic><topic>Cardiomyopathy</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Cardiomyopathy, Hypertrophic - metabolism</topic><topic>Cardiomyopathy, Hypertrophic - pathology</topic><topic>Congenital myopathy</topic><topic>Desmin - deficiency</topic><topic>Desminopathy</topic><topic>Echocardiography - methods</topic><topic>Electrocardiography</topic><topic>Female</topic><topic>Gadolinium DTPA</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Middle Aged</topic><topic>MR delayed enhancement imaging</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Muscle, Skeletal - pathology</topic><topic>Myocardium - metabolism</topic><topic>Myocardium - pathology</topic><topic>Neurology</topic><topic>Tomography, X-Ray Computed</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Strach, Katharina</creatorcontrib><creatorcontrib>Sommer, Torsten</creatorcontrib><creatorcontrib>Grohé, Christian</creatorcontrib><creatorcontrib>Meyer, Carsten</creatorcontrib><creatorcontrib>Fischer, Dirk</creatorcontrib><creatorcontrib>Walter, Maggie C</creatorcontrib><creatorcontrib>Vorgerd, Matthias</creatorcontrib><creatorcontrib>Reilich, Peter</creatorcontrib><creatorcontrib>Bär, Harald</creatorcontrib><creatorcontrib>Reimann, Jens</creatorcontrib><creatorcontrib>Reuner, Ulrike</creatorcontrib><creatorcontrib>Germing, Alfried</creatorcontrib><creatorcontrib>Goebel, Hans Hilmar</creatorcontrib><creatorcontrib>Lochmüller, Hanns</creatorcontrib><creatorcontrib>Wintersperger, Bernd</creatorcontrib><creatorcontrib>Schröder, Rolf</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><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Strach, Katharina</au><au>Sommer, Torsten</au><au>Grohé, Christian</au><au>Meyer, Carsten</au><au>Fischer, Dirk</au><au>Walter, Maggie C</au><au>Vorgerd, Matthias</au><au>Reilich, Peter</au><au>Bär, Harald</au><au>Reimann, Jens</au><au>Reuner, Ulrike</au><au>Germing, Alfried</au><au>Goebel, Hans Hilmar</au><au>Lochmüller, Hanns</au><au>Wintersperger, Bernd</au><au>Schröder, Rolf</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>2008-06-01</date><risdate>2008</risdate><volume>18</volume><issue>6</issue><spage>475</spage><epage>482</epage><pages>475-482</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Abstract We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>18504128</pmid><doi>10.1016/j.nmd.2008.03.012</doi><tpages>8</tpages></addata></record> |
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| ispartof | Neuromuscular disorders : NMD, 2008-06, Vol.18 (6), p.475-482 |
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| subjects | Adolescent Adult Cardiac magnetic resonance imaging Cardiomyopathy Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - metabolism Cardiomyopathy, Hypertrophic - pathology Congenital myopathy Desmin - deficiency Desminopathy Echocardiography - methods Electrocardiography Female Gadolinium DTPA Humans Magnetic Resonance Imaging Male Middle Aged MR delayed enhancement imaging Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Myocardium - metabolism Myocardium - pathology Neurology Tomography, X-Ray Computed |
| title | Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies |
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