{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T09:05:32Z","timestamp":1784883932819,"version":"3.55.0"},"reference-count":47,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"15","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2019,8,6]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">Cardiomyopathies are heterogeneous diseases with clinical presentations varying from asymptomatic to life\u2010threatening events, including severe heart failure and sudden cardiac death. The role of underlying genetic and disease\u2010modulating factors in children and adolescents is relatively unknown. In this prospective study, in\u2010depth phenotypic and genetic characterization of pediatric patients with primary cardiomyopathy and their first\u2010degree family members (FMs) was performed. Outcome was assessed to identify clinical risk factors.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Sixty index patients with primary cardiomyopathy (median age: 7.8\u00a0years) and 124 FMs were enrolled in the RIKADA (Risk Stratification in Children and Adolescents with Primary Cardiomyopathy) study. Family screening included cardiac workup and genetic testing. Using cardiologic screening, we identified 17 FMs with cardiomyopathies and 30 FMs with suspected cardiomyopathies. Adverse events appeared in 32% of index patients and were more common in those with lower body surface area (\n              <jats:italic>P<\/jats:italic>\n              =0.019), increased NT\u2010proBNP (N\u2010terminal pro\u2013brain natriuretic peptide;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001), and left ventricular dysfunction (\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001) and dilatation (\n              <jats:italic>P<\/jats:italic>\n              =0.005). The worst prognosis was observed in dilated and restrictive cardiomyopathies. Genetic variants of interest were detected in patients (79%) and FMs (67%). In all 15 families with at least 1 FM with cardiomyopathy, we found a variant of interest in the index patient. Increased number of variants of interest per patient was associated with adverse events (\n              <jats:italic>P<\/jats:italic>\n              =0.021). Late gadolinium enhancement was related to positive genotypes in patients (\n              <jats:italic>P<\/jats:italic>\n              =0.041).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">Lower body surface area, increased NT\u2010proBNP, left ventricular dysfunction or dilatation, late gadolinium enhancement, and increased number of variants of interest were associated with adverse outcome and should be considered for risk assessment in pediatric primary cardiomyopathies.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Clinical Trial Registration<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              URL:\n              <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.clinicaltrials.gov\/\">https:\/\/www.clinicaltrials.gov\/<\/jats:ext-link>\n              . Unique identifier: NCT03572569.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.119.012531","type":"journal-article","created":{"date-parts":[[2019,7,23]],"date-time":"2019-07-23T09:12:07Z","timestamp":1563873127000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":31,"title":["RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy"],"prefix":"10.1161","volume":"8","author":[{"given":"Nadya","family":"Al\u2010Wakeel\u2010Marquard","sequence":"first","affiliation":[{"name":"Department of Congenital Heart Disease\u2014Pediatric Cardiology German Heart Center Berlin Berlin Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), partner site Berlin Berlin Germany"},{"name":"Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health Institute for Imaging Science and Computational Modelling in Cardiovascular Medicine Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Degener","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease\u2014Pediatric Cardiology German Heart Center Berlin Berlin Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), partner site Berlin Berlin Germany"},{"name":"Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health Institute for Imaging Science and Computational Modelling in Cardiovascular Medicine Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Herbst","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease\u2014Pediatric Cardiology German Heart Center Berlin Berlin Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), partner site Berlin Berlin Germany"},{"name":"Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health Experimental and Clinical Research Center, a joint cooperation between the Charit\u00e9 Medical Faculty and the Max\u2010Delbr\u00fcck\u2010Center for Molecular Medicine Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jirko","family":"K\u00fchnisch","sequence":"additional","affiliation":[{"name":"DZHK (German Centre for Cardiovascular Research), partner site Berlin Berlin Germany"},{"name":"Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health Experimental and Clinical Research Center, a joint cooperation between the Charit\u00e9 Medical Faculty and the Max\u2010Delbr\u00fcck\u2010Center for Molecular Medicine 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