{"doi":"10.1161/circheartfailure.123.010700","title":"Imaging and Serum Biomarkers for Cardiomyopathy in Duchenne Muscular Dystrophy","abstract":"Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder characterized by profound muscle weakness and cardiomyopathy.DMD arises from mutations that completely ablate dystrophin production, and most commonly, these are large genetic deletions that disrupt the reading frame of the DMD gene.Becker Muscular Dystrophy (BMD) also arises from DMD gene mutations, but in BMD the nature of the gene mutations, typically in-frame genetic deletions, leaves some dystrophin protein production intact.Consequently, BMD patients have symptom onset later than DMD patients.Most DMD boys are diagnosed by age 5 with weakness and elevated serum creatine kinase.Boys with DMD are treated with glucocorticoid steroids to prolong ambulation and improve cardiopulmonary function. 1Many young DMD boys will improve on motor function tests, especially after initiating steroids. 2Despite steroids, most DMD patients lose ambulation in the early second decade, transitioning to full time wheelchair use.Cardiomyopathy in DMD and BMD is frequent, with current guidelines recommending early institution of angiotensin converting enzyme inhibitors or angiotensin receptor blockers (ACEi/ARB), along with guidance on beta blockers and aldosterone antagonism. 3arly institution of guideline-directed medical therapy (GDMT) slows progression of DMD cardiomyopathy. 4Medical treatment, including steroids and GDMT, along with noninvasive respiratory support, has shifted the DMD lifespan so that many individuals now survive into the fourth decade.Although lifespan has improved, quality of life remains impaired by muscle weakness limiting activities of daily living.Approved gene-directed treatments for DMD include exon skipping antisense drugs that produce re-framed dystrophin. 5These agents, which produce from 1-8% of dystrophin, require regular intravenous infusions.Viral gene therapy is currently being evaluated in clinical trials, and, to date, more than 150 boys with DMD have received adeno-associated viruses expressing micro-dystrophin.Because of limited viral carrying capacity, microdystrophin includes only a fraction of the entire dystrophin gene, specifically lacking","journal":"Circulation Heart Failure","year":2023,"id":394688,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9596,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":574489,"name":"Karisma Chhabria","orcid":"0000-0001-7571-2836","position":1,"is_corresponding":false},{"id":991948,"name":"Dominic E. Fullenkamp","orcid":"0000-0001-7627-7119","position":2,"is_corresponding":false},{"id":297686,"name":"Elizabeth M. McNally","orcid":"0000-0002-1221-719X","position":0,"is_corresponding":true}],"reference_count":9,"raw_metadata":null,"created_at":"2026-07-19T01:19:14.590635Z","pmid":"37288552","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}