Dilated cardiomyopathy (DCM) is a rare heart muscle disorder characterized by dilation and contractile dysfunction of the left and right ventricles. Per Orphanet (Orphanet:217604) and GARD (GARD:221), DCM is a leading cause of congestive heart failure. The condition is etiologically heterogeneous, encompassing three recognized subtypes: familial dilated cardiomyopathy (heritable genetic forms), viral dilated cardiomyopathy (triggered by myocardial infection), and non-familial dilated cardiomyopathy (idiopathic or secondary to other acquired causes including myocardial infarction and alcohol use). Onset categories are not specified in this packet; both pediatric and adult presentations are reflected in the active clinical trial landscape. The condition is also known as congestive cardiomyopathy, idiopathic dilation cardiomyopathy, and primary dilated cardiomyopathy.

Detailed phenotype-level data are not included in this packet (total_phenotype_count: 0). Per the packet definition, the primary clinical consequence of ventricular dilation and impaired contractile function is congestive heart failure. The clinical trial landscape reflects involvement of pediatric populations (NCT05112237, a natural history study of MYBPC3 mutation-associated cardiomyopathy in children), indicating the condition is not limited to adults. The research landscape includes biomarker publications (243 classified publications with biomarker and gene therapy streams), reflecting ongoing characterization of clinical features. Specific symptom frequencies, HPO-coded phenotypes, and organ system involvement are not available in this packet.

DCM arises from multiple etiologies. Per the packet definition, recognized causes include idiopathic origin (unknown), myocardial infarction, myocardial infection, and alcohol use. Familial dilated cardiomyopathy, a recognized subtype, involves heritable genetic variants. The packet's known_genes field does not list specific causative genes; however, genetic forms are reflected in the active clinical trial landscape, which includes studies targeting PLN R14del (NCT07241104, AstraZeneca), MYBPC3 mutations (NCT05112237, Tenaya Therapeutics), BAG3-associated DCM (NCT07426419, Affinia Therapeutics; NCT07218887, Alexion Pharmaceuticals), and LMNA-related DCM (NCT07606274, Nuevocor). These trial references illustrate the genetic heterogeneity of the familial subtype. The clinvar_variants field documents one likely pathogenic single nucleotide variant without hotspot characterization. Inheritance patterns are not documented in this packet.

Diagnostic criteria and specific biomarkers are not documented in this packet. DCM is identified through ventricular dilation and contractile dysfunction per the definition. A long-term natural history registry for chronic cardiovascular conditions including DCM is actively recruiting (NCT07420907, Prolaio, through 2030). A natural history study in pediatric patients with MYBPC3 mutation-associated cardiomyopathy is ongoing (NCT05112237, Tenaya Therapeutics). The packet does not specify diagnostic imaging thresholds, biomarker cut-offs, or formal classification criteria.

One FDA-approved treatment with active market status is documented in this packet: CORLANOR (ivabradine, NDA, approved April 2015). Three orphan drug designations are noted: trimetazidine (Martin Pharmaceuticals, active designated status) for DCM. Two orphan designations are listed with withdrawn status — ixmyelocel-T (Vericel Corporation) and a p38 mitogen-activated kinase inhibitor (Array BioPharma, for DCM including DCM secondary to lamin A/C gene mutations). Withdrawn designations do not represent current therapeutic options. Investigational gene therapy and targeted molecular approaches are actively under clinical investigation, including AAV gene therapy (NCT07426419), targeted therapies for LMNA-related DCM (NCT07606274), and a myosin activator program (danicamtiv, Kardigan, Phase 2 NCT07210723 and Phase 3 NCT07771465).

Natural history and long-term prognosis information are not documented in this packet. Per the definition, DCM is a recognized cause of congestive heart failure, indicating significant cardiac morbidity; however, formal natural history data, survival statistics, or outcome predictors are absent from this packet.

Per ClinicalTrials.gov, 60 active trials are registered for dilated cardiomyopathy — the largest active trial count in this batch. Gene therapy studies are prominent: an AAV gene therapy trial of AFTX-201 for BAG3-associated DCM (Phase 1, NCT07426419, Affinia Therapeutics, recruiting through 2032), a study of ALXN2350 for BAG3-associated DCM (Phase 1, NCT07218887, Alexion Pharmaceuticals, through 2032), a study of NVC-001 for LMNA-related DCM (Phase 1, NCT07606274, Nuevocor, through 2030), and a study of AZD4063 in PLN R14del DCM (Phase 1, NCT07241104, AstraZeneca). A Phase 2 and Phase 3 danicamtiv program is underway for genetic and familial DCM (NCT07210723, NCT07771465, Kardigan). Cellular therapy using FAP iCDC in end-stage DCM is under Phase 1 evaluation (NCT06902896, NCT07516288, Zhejiang University). A pediatric natural history study of MYBPC3 mutation-associated cardiomyopathy is active (NCT05112237, Tenaya Therapeutics). Published research totals 243 classified publications with reviews, biomarker studies, and gene therapy publication streams represented. Authoritative resources include Orphanet (Orphanet:217604) and the NIH GARD database (GARD:221).