Pediatric Cardiomyopathies
Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pedi...
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| Veröffentlicht in: | Circulation research 2017-09, Vol.121 (7), p.855-873 |
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| creator | Lee, Teresa M Hsu, Daphne T Kantor, Paul Towbin, Jeffrey A Ware, Stephanie M Colan, Steven D Chung, Wendy K Jefferies, John L Rossano, Joseph W Castleberry, Chesney D Addonizio, Linda J Lal, Ashwin K Lamour, Jacqueline M Miller, Erin M Thrush, Philip T Czachor, Jason D Razoky, Hiedy Hill, Ashley Lipshultz, Steven E |
| description | Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.
CLINICAL TRIAL REGISTRATION:URLhttp://www.clinicaltrials.gov. Unique identifiersNCT02549664 and NCT01912534. |
| doi_str_mv | 10.1161/CIRCRESAHA.116.309386 |
| format | Article |
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CLINICAL TRIAL REGISTRATION:URLhttp://www.clinicaltrials.gov. Unique identifiersNCT02549664 and NCT01912534.</description><identifier>ISSN: 0009-7330</identifier><identifier>EISSN: 1524-4571</identifier><identifier>DOI: 10.1161/CIRCRESAHA.116.309386</identifier><identifier>PMID: 28912187</identifier><language>eng</language><publisher>United States: American Heart Association, Inc</publisher><subject>Age of Onset ; Arteriosclerosis ; Cardiac Imaging Techniques ; Cardiomyopathies - diagnosis ; Cardiomyopathies - epidemiology ; Cardiomyopathies - genetics ; Cardiomyopathies - therapy ; Cardiomyopathy ; Children ; Clinical trials ; Coronary artery ; Diabetes mellitus ; Dilated cardiomyopathy ; Epidemiology ; Gene expression ; Genetic Markers ; Genetic Predisposition to Disease ; Heart ; Humans ; Incidence ; Infants ; Molecular Diagnostic Techniques ; Mutation ; Myocardium - pathology ; Pathogenesis ; Pediatrics ; Phenotype ; Prognosis ; Rare diseases ; Renal function ; Risk Factors ; Transplantation ; Ventricle ; Ventricular Function</subject><ispartof>Circulation research, 2017-09, Vol.121 (7), p.855-873</ispartof><rights>2017 American Heart Association, Inc.</rights><rights>Copyright Lippincott Williams & Wilkins Ovid Technologies Sep 15, 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c6020-8af11e475ba5dd60cea50262078bc2a887d33f14eef9732ad4f85560c672d8383</citedby><cites>FETCH-LOGICAL-c6020-8af11e475ba5dd60cea50262078bc2a887d33f14eef9732ad4f85560c672d8383</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,3674,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28912187$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lee, Teresa M</creatorcontrib><creatorcontrib>Hsu, Daphne T</creatorcontrib><creatorcontrib>Kantor, Paul</creatorcontrib><creatorcontrib>Towbin, Jeffrey A</creatorcontrib><creatorcontrib>Ware, Stephanie M</creatorcontrib><creatorcontrib>Colan, Steven D</creatorcontrib><creatorcontrib>Chung, Wendy K</creatorcontrib><creatorcontrib>Jefferies, John L</creatorcontrib><creatorcontrib>Rossano, Joseph W</creatorcontrib><creatorcontrib>Castleberry, Chesney D</creatorcontrib><creatorcontrib>Addonizio, Linda J</creatorcontrib><creatorcontrib>Lal, Ashwin K</creatorcontrib><creatorcontrib>Lamour, Jacqueline M</creatorcontrib><creatorcontrib>Miller, Erin M</creatorcontrib><creatorcontrib>Thrush, Philip T</creatorcontrib><creatorcontrib>Czachor, Jason D</creatorcontrib><creatorcontrib>Razoky, Hiedy</creatorcontrib><creatorcontrib>Hill, Ashley</creatorcontrib><creatorcontrib>Lipshultz, Steven E</creatorcontrib><title>Pediatric Cardiomyopathies</title><title>Circulation research</title><addtitle>Circ Res</addtitle><description>Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.
CLINICAL TRIAL REGISTRATION:URLhttp://www.clinicaltrials.gov. Unique identifiersNCT02549664 and NCT01912534.</description><subject>Age of Onset</subject><subject>Arteriosclerosis</subject><subject>Cardiac Imaging Techniques</subject><subject>Cardiomyopathies - diagnosis</subject><subject>Cardiomyopathies - epidemiology</subject><subject>Cardiomyopathies - genetics</subject><subject>Cardiomyopathies - therapy</subject><subject>Cardiomyopathy</subject><subject>Children</subject><subject>Clinical trials</subject><subject>Coronary artery</subject><subject>Diabetes mellitus</subject><subject>Dilated cardiomyopathy</subject><subject>Epidemiology</subject><subject>Gene expression</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Heart</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infants</subject><subject>Molecular Diagnostic Techniques</subject><subject>Mutation</subject><subject>Myocardium - pathology</subject><subject>Pathogenesis</subject><subject>Pediatrics</subject><subject>Phenotype</subject><subject>Prognosis</subject><subject>Rare diseases</subject><subject>Renal function</subject><subject>Risk Factors</subject><subject>Transplantation</subject><subject>Ventricle</subject><subject>Ventricular Function</subject><issn>0009-7330</issn><issn>1524-4571</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkUlLBDEQhYMoOi5_QFAEL15aq7L3RRiacQFBcTmHTHfaae2ZjEm34r83w7ifiqp89aj3QsgewjGixJPi8ra4Hd0NL4aL_phBzrRcIQMUlGdcKFwlAwDIM8UYbJDNGJ8AkDOar5MNqnOkqNWA7N64qrFdaMqDwoaq8dN3P7fdpHFxm6zVto1u57NukYez0X1xkV1dn18Ww6uslEAh07ZGdFyJsRVVJaF0VgCVFJQel9RqrSrGauTO1bli1Fa81kIkTipaaabZFjld6s778dRVpZt1wbZmHpqpDe_G28b8fZk1E_PoX42QQtF8IXD0KRD8S-9iZ6ZNLF3b2pnzfTSYcwCeHNOEHv5Dn3wfZsmeoQBSKy2FTJRYUmXwMQZXfx-DYBbpm5_0F71Zpp_29n87-d76ijsBfAm8-bZzIT63_ZsLZuJs201M-i5ggDSjgApyFJClCQL7APmUjxY</recordid><startdate>20170915</startdate><enddate>20170915</enddate><creator>Lee, Teresa M</creator><creator>Hsu, Daphne T</creator><creator>Kantor, Paul</creator><creator>Towbin, Jeffrey A</creator><creator>Ware, Stephanie M</creator><creator>Colan, Steven D</creator><creator>Chung, Wendy K</creator><creator>Jefferies, John L</creator><creator>Rossano, Joseph W</creator><creator>Castleberry, Chesney D</creator><creator>Addonizio, Linda J</creator><creator>Lal, Ashwin K</creator><creator>Lamour, Jacqueline M</creator><creator>Miller, Erin M</creator><creator>Thrush, Philip T</creator><creator>Czachor, Jason D</creator><creator>Razoky, Hiedy</creator><creator>Hill, Ashley</creator><creator>Lipshultz, Steven E</creator><general>American Heart Association, Inc</general><general>Lippincott Williams & Wilkins Ovid Technologies</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>7QP</scope><scope>7T5</scope><scope>7TK</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20170915</creationdate><title>Pediatric Cardiomyopathies</title><author>Lee, Teresa M ; Hsu, Daphne T ; Kantor, Paul ; Towbin, Jeffrey A ; Ware, Stephanie M ; Colan, Steven D ; Chung, Wendy K ; Jefferies, John L ; Rossano, Joseph W ; Castleberry, Chesney D ; Addonizio, Linda J ; Lal, Ashwin K ; Lamour, Jacqueline M ; Miller, Erin M ; Thrush, Philip T ; Czachor, Jason D ; Razoky, Hiedy ; Hill, Ashley ; Lipshultz, Steven E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c6020-8af11e475ba5dd60cea50262078bc2a887d33f14eef9732ad4f85560c672d8383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Age of Onset</topic><topic>Arteriosclerosis</topic><topic>Cardiac Imaging Techniques</topic><topic>Cardiomyopathies - diagnosis</topic><topic>Cardiomyopathies - epidemiology</topic><topic>Cardiomyopathies - genetics</topic><topic>Cardiomyopathies - therapy</topic><topic>Cardiomyopathy</topic><topic>Children</topic><topic>Clinical trials</topic><topic>Coronary artery</topic><topic>Diabetes mellitus</topic><topic>Dilated cardiomyopathy</topic><topic>Epidemiology</topic><topic>Gene expression</topic><topic>Genetic Markers</topic><topic>Genetic Predisposition to Disease</topic><topic>Heart</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infants</topic><topic>Molecular Diagnostic Techniques</topic><topic>Mutation</topic><topic>Myocardium - pathology</topic><topic>Pathogenesis</topic><topic>Pediatrics</topic><topic>Phenotype</topic><topic>Prognosis</topic><topic>Rare diseases</topic><topic>Renal function</topic><topic>Risk Factors</topic><topic>Transplantation</topic><topic>Ventricle</topic><topic>Ventricular Function</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lee, Teresa M</creatorcontrib><creatorcontrib>Hsu, Daphne T</creatorcontrib><creatorcontrib>Kantor, Paul</creatorcontrib><creatorcontrib>Towbin, Jeffrey A</creatorcontrib><creatorcontrib>Ware, Stephanie M</creatorcontrib><creatorcontrib>Colan, Steven D</creatorcontrib><creatorcontrib>Chung, Wendy K</creatorcontrib><creatorcontrib>Jefferies, John L</creatorcontrib><creatorcontrib>Rossano, Joseph W</creatorcontrib><creatorcontrib>Castleberry, Chesney D</creatorcontrib><creatorcontrib>Addonizio, Linda J</creatorcontrib><creatorcontrib>Lal, Ashwin K</creatorcontrib><creatorcontrib>Lamour, Jacqueline M</creatorcontrib><creatorcontrib>Miller, Erin M</creatorcontrib><creatorcontrib>Thrush, Philip T</creatorcontrib><creatorcontrib>Czachor, Jason D</creatorcontrib><creatorcontrib>Razoky, Hiedy</creatorcontrib><creatorcontrib>Hill, Ashley</creatorcontrib><creatorcontrib>Lipshultz, Steven E</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Circulation research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lee, Teresa M</au><au>Hsu, Daphne T</au><au>Kantor, Paul</au><au>Towbin, Jeffrey A</au><au>Ware, Stephanie M</au><au>Colan, Steven D</au><au>Chung, Wendy K</au><au>Jefferies, John L</au><au>Rossano, Joseph W</au><au>Castleberry, Chesney D</au><au>Addonizio, Linda J</au><au>Lal, Ashwin K</au><au>Lamour, Jacqueline M</au><au>Miller, Erin M</au><au>Thrush, Philip T</au><au>Czachor, Jason D</au><au>Razoky, Hiedy</au><au>Hill, Ashley</au><au>Lipshultz, Steven E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pediatric Cardiomyopathies</atitle><jtitle>Circulation research</jtitle><addtitle>Circ Res</addtitle><date>2017-09-15</date><risdate>2017</risdate><volume>121</volume><issue>7</issue><spage>855</spage><epage>873</epage><pages>855-873</pages><issn>0009-7330</issn><eissn>1524-4571</eissn><abstract>Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.
CLINICAL TRIAL REGISTRATION:URLhttp://www.clinicaltrials.gov. Unique identifiersNCT02549664 and NCT01912534.</abstract><cop>United States</cop><pub>American Heart Association, Inc</pub><pmid>28912187</pmid><doi>10.1161/CIRCRESAHA.116.309386</doi><tpages>19</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; American Heart Association Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Journals@Ovid Complete |
| subjects | Age of Onset Arteriosclerosis Cardiac Imaging Techniques Cardiomyopathies - diagnosis Cardiomyopathies - epidemiology Cardiomyopathies - genetics Cardiomyopathies - therapy Cardiomyopathy Children Clinical trials Coronary artery Diabetes mellitus Dilated cardiomyopathy Epidemiology Gene expression Genetic Markers Genetic Predisposition to Disease Heart Humans Incidence Infants Molecular Diagnostic Techniques Mutation Myocardium - pathology Pathogenesis Pediatrics Phenotype Prognosis Rare diseases Renal function Risk Factors Transplantation Ventricle Ventricular Function |
| title | Pediatric Cardiomyopathies |
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