{"id":"https://openalex.org/W7220397303","doi":"https://doi.org/10.3389/fped.2026.1891137","title":"Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure","display_name":"Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure","publication_year":2026,"publication_date":"2026-10-05","ids":{"openalex":"https://openalex.org/W7220397303","doi":"https://doi.org/10.3389/fped.2026.1891137","pmid":"https://pubmed.ncbi.nlm.nih.gov/42898550","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13677932"},"language":"en","primary_location":{"id":"doi:10.3389/fped.2026.1891137","doi":"https://doi.org/10.3389/fped.2026.1891137","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fped.2026.1891137","pdf_url":"https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1891137/pdf","source":{"id":"https://openalex.org/S2596117549","display_name":"Frontiers in Pediatrics","issn_l":"2296-2360","issn":["2296-2360"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1891137/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5157486278","display_name":"Belinda Kwartemaa Nti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Belinda Kwartemaa Nti","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, Mayo Clinic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Mayo Clinic","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114204320","display_name":"Noah Trapp","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Noah Trapp","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, Mayo Clinic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Mayo Clinic","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086452721","display_name":"Asma Ali","orcid":"https://orcid.org/0000-0003-4400-6749","observed_orcids":["https://orcid.org/0000-0003-4400-6749"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Asma Ali","raw_affiliation_strings":["Department of Clinical Genomics, Mayo Clinic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088068332","display_name":"Brendan C. Lanpher","orcid":"https://orcid.org/0000-0002-8899-3582","observed_orcids":["https://orcid.org/0000-0002-8899-3582"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brendan Lanpher","raw_affiliation_strings":["Department of Clinical Genomics, Mayo Clinic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044824587","display_name":"Jeffrey R. Weatherhead","orcid":"https://orcid.org/0000-0001-6954-7256","observed_orcids":["https://orcid.org/0000-0001-6954-7256"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey Weatherhead","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, Division of Pediatric Critical Care Medicine, Mayo Clinic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Critical Care Medicine, Mayo Clinic","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5157486278"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.75646817,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":null,"first_page":"1891137","last_page":"1891137"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.00430000014603138,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11112","display_name":"Viral Infections and Immunology Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2725","display_name":"Infectious Diseases"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/propionic-acidemia","display_name":"propionic acidemia","score":0.9789999723434448},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.765999972820282},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.9789999723434448},{"id":"https://openalex.org/keywords/acute-heart-failure","display_name":"acute heart failure","score":0.9549999833106995},{"id":"https://openalex.org/keywords/ventricular-arrhythmias","display_name":"ventricular arrhythmias","score":0.734000027179718},{"id":"https://openalex.org/keywords/propionylcarnitine","display_name":"propionylcarnitine","score":0.968999981880188},{"id":"https://openalex.org/keywords/l-carnitine-supplementation","display_name":"carnitine supplementation","score":0.8169999718666077},{"id":"https://openalex.org/keywords/adolescents","display_name":"adolescents","score":0.6209999918937683},{"id":"https://openalex.org/keywords/hospice-care","display_name":"hospice care","score":0.5789999961853027}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9373999834060669},{"id":"https://openalex.org/C2779488543","wikidata":"https://www.wikidata.org/wiki/Q7250337","display_name":"Propionic acidemia","level":2,"score":0.9143000245094299},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.7601000070571899},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.7300999760627747},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.6557999849319458},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.6299999952316284},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.5568000078201294},{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.5519000291824341},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5442000031471252},{"id":"https://openalex.org/C2779246250","wikidata":"https://www.wikidata.org/wiki/Q1598200","display_name":"Metabolic acidosis","level":2,"score":0.4237000048160553},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.4059000015258789},{"id":"https://openalex.org/C111566952","wikidata":"https://www.wikidata.org/wiki/Q1303462","display_name":"Cardiac function curve","level":3,"score":0.38179999589920044},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.35850000381469727},{"id":"https://openalex.org/C2779295919","wikidata":"https://www.wikidata.org/wiki/Q4677930","display_name":"Acute decompensated heart failure","level":3,"score":0.34880000352859497},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.33169999718666077},{"id":"https://openalex.org/C2779681694","wikidata":"https://www.wikidata.org/wiki/Q8034532","display_name":"Work-up","level":2,"score":0.3294000029563904},{"id":"https://openalex.org/C2780886150","wikidata":"https://www.wikidata.org/wiki/Q152234","display_name":"Edema","level":2,"score":0.2784999907016754},{"id":"https://openalex.org/C2780505380","wikidata":"https://www.wikidata.org/wiki/Q7142931","display_name":"Past medical history","level":2,"score":0.2572000026702881},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.25130000710487366}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.3389/fped.2026.1891137","doi":"https://doi.org/10.3389/fped.2026.1891137","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fped.2026.1891137","pdf_url":"https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1891137/pdf","source":{"id":"https://openalex.org/S2596117549","display_name":"Frontiers in Pediatrics","issn_l":"2296-2360","issn":["2296-2360"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pediatrics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13677932","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13677932/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13677932/pdf/fped-14-1891137.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Pediatr","raw_type":"Text"},{"id":"pmid:42898550","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42898550","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in pediatrics","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:bbdbbdb1f5744e61827d66845ba4cf45","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/bbdbbdb1f5744e61827d66845ba4cf45","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Pediatrics, Vol 14 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fped.2026.1891137","doi":"https://doi.org/10.3389/fped.2026.1891137","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fped.2026.1891137","pdf_url":"https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1891137/pdf","source":{"id":"https://openalex.org/S2596117549","display_name":"Frontiers in Pediatrics","issn_l":"2296-2360","issn":["2296-2360"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9907000064849854}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7220397303.pdf","grobid_xml":"https://content.openalex.org/works/W7220397303.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W2089594215","https://openalex.org/W2095302469","https://openalex.org/W2752244023","https://openalex.org/W2793832568","https://openalex.org/W2809143107","https://openalex.org/W2988395836","https://openalex.org/W3000559724","https://openalex.org/W3089917185","https://openalex.org/W3094323304","https://openalex.org/W3116894307","https://openalex.org/W4296181298","https://openalex.org/W4308267243","https://openalex.org/W4366084344","https://openalex.org/W4384945406","https://openalex.org/W4393046461","https://openalex.org/W4417467195"],"related_works":["https://openalex.org/W2089594215","https://openalex.org/W4280489779","https://openalex.org/W7222320073","https://openalex.org/W2122647621","https://openalex.org/W4413965139","https://openalex.org/W2092783684","https://openalex.org/W4412091027","https://openalex.org/W412593389","https://openalex.org/W2400924344","https://openalex.org/W4226358900"],"abstract_inverted_index":{"Background:":[0],"Propionic":[1],"acidemia":[2],"(PA)":[3],"is":[4,30,163],"a":[5,46,126],"rare":[6],"inborn":[7],"error":[8],"of":[9,51,53,67,75,160],"metabolism":[10],"that":[11],"typically":[12],"presents":[13],"in":[14,72,156,165,169],"infancy;":[15],"however,":[16,130],"late-onset":[17,116],"variants":[18],"may":[19],"manifest":[20],"with":[21,40,61,89,122,138],"atypical":[22],"features,":[23],"including":[24],"cardiac":[25,131],"involvement.":[26],"Dilated":[27],"cardiomyopathy":[28,52,155],"(DCM)":[29],"an":[31,57],"uncommon":[32],"but":[33,45],"serious":[34],"complication.":[35],"Case":[36],"summary:":[37],"A":[38],"15-year-old":[39],"no":[41],"prior":[42],"medical":[43],"history":[44,50],"significant":[47],"maternal":[48],"family":[49,139],"unknown":[54],"etiology":[55],"from":[56],"Amish":[58],"background":[59],"presented":[60],"altered":[62],"mental":[63],"status,":[64],"increased":[65,111],"work":[66],"breathing,":[68],"and":[69,86,102,110,125],"progressive":[70],"edema":[71],"the":[73],"context":[74],"preceding":[76],"viral":[77],"illness.":[78],"Evaluation":[79],"revealed":[80],"severe":[81],"biventricular":[82],"dysfunction,":[83],"chamber":[84],"dilation,":[85],"findings":[87],"consistent":[88],"chronic":[90],"DCM.":[91],"Despite":[92],"supportive":[93],"management,":[94],"her":[95],"course":[96],"was":[97,120,142],"complicated":[98],"by":[99],"ventricular":[100],"arrhythmias":[101],"clinical":[103],"deterioration.":[104],"Metabolic":[105],"workup":[106],"demonstrated":[107],"elevated":[108],"propionylcarnitine":[109],"urinary":[112],"2-methylcitric":[113],"acid,":[114],"confirming":[115],"variant":[117],"PA.":[118],"She":[119],"treated":[121],"intravenous":[123],"carnitine":[124],"specialized":[127],"metabolic":[128,161],"formula;":[129],"function":[132],"remained":[133],"severely":[134],"impaired.":[135],"In":[136],"accordance":[137],"wishes,":[140],"she":[141],"discharged":[143],"home":[144],"on":[145],"hospice":[146],"care.":[147],"Conclusion:":[148],"Late-onset":[149],"PA":[150],"can":[151],"present":[152],"as":[153],"isolated":[154],"adolescence.":[157],"Early":[158],"consideration":[159],"etiologies":[162],"essential":[164],"unexplained":[166],"DCM,":[167],"particularly":[168],"high-risk":[170],"populations.":[171]},"counts_by_year":[],"updated_date":"2026-10-29T09:56:32.521200","created_date":"2026-10-06T00:00:00"}
