2f:I[703058,["/_next/static/immutable/chunks/3bhq_5eh1d760.js","/_next/static/immutable/chunks/1855-ogyi8eh4.js","/_next/static/immutable/chunks/2pfsjpn6k6zlg.js","/_next/static/immutable/chunks/26c7v3_3uwnwu.js","/_next/static/immutable/chunks/25a3ozcrvi1ff.js","/_next/static/immutable/chunks/2r4wx50nvjh_4.js","/_next/static/immutable/chunks/23fsw06hsi5b1.js","/_next/static/immutable/chunks/06_yt270h41rg.js","/_next/static/immutable/chunks/3ezsiz-7shkna.js","/_next/static/immutable/chunks/20x2y96ldu5wx.js","/_next/static/immutable/chunks/2lxntcm3pd1_h.js","/_next/static/immutable/chunks/00dgco8irq3jw.js","/_next/static/immutable/chunks/00nwe-kq0rboc.js","/_next/static/immutable/chunks/2051ffx3xzio9.js"],"PaperListPageClient"] 30:T660,This study was designed to identify genes for further study as modifiers of the severity of cardiomyopathy in DMD-related Duchenne Muscular Dystrophy (DMD). We evaluated genome sequencing results in a well-phenotyped DMD cohort with severe cardiomyopathy against those with less severe cardiomyopathy. Using combined annotation-dependent depletion variant annotation to look at variant burden, we created a difference between group mean (DBGM) summative C-Scores by gene. We completed analyses on three groups. For each analysis, we normalized DBGM summative C-Score and determined which genes had a value > three standard deviations from the mean in all three analyses. There were 54 DMD males in this analysis. 18 individuals (33%) had severe cardiomyopathy and 36 individuals (67%) had less severe cardiomyopathy. Nine genes were identified as possible cardiomyopathy severity modifiers: ANKLE1, ESRRA, FRAS1, GEMIN4, GXYLT1, MTCH2, PKD1L2, PRSS2 and QRFPR. DBGM summative C-Scores in well-phenotyped groups are a feasible exploratory method to identify genetic targets for additional study. There is preliminary evidence from this and other studies suggesting further evaluation of ESRRA, GEMIN4, and MTCH2 as modifiers of cardiomyopathy severity could advance understanding of DMD cardiomyopathy progression. This article identifies possible genetic modifiers of DMD cardiomyopathy severity via a novel method of looking at variant burden between groups. This adds to the existing literature by providing new evidence for modifier pathway targets for possible therapeutic targets or drug repurposing in a rare genetic disorder.31:Te89,Abstract Background This study was designed to identify genes for further study as modifiers of the severity of cardiomyopathy in DMD- related Duchenne Muscular Dystrophy (DMD). Methods We evaluated genome sequencing results in a well-phenotyped DMD cohort with severe cardiomyopathy against those with less severe cardiomyopathy. Using combined annotation-dependent depletion variant annotation to look at variant burden, we created a difference between group mean (DBGM) summative C-Scores by gene. We completed analyses on three groups. For each analysis, we normalized DBGM summative C-Score and determined which genes had a value > three standard deviations from the mean in all three analyses. Results There were 54 DMD males in this analysis. 18 individuals (33%) had severe cardiomyopathy and 36 individuals (67%) had less severe cardiomyopathy. Nine genes were identified as possible cardiomyopathy severity modifiers: ANKLE1 , ESRRA , FRAS1 , GEMIN4 , GXYLT1 , MTCH2 , PKD1L2 , PRSS2 and QRFPR . Conclusion DBGM summative C-Scores in well-phenotyped groups are a feasible exploratory method to identify genetic targets for additional study. There is preliminary evidence from this and other studies suggesting further evaluation of ESRRA , GEMIN4 , and MTCH2 as modifiers of cardiomyopathy severity could advance understanding of DMD cardiomyopathy progression. Impact

This article identifies possible genetic modifiers of DMD cardiomyopathy severity via a novel method of looking at variant burden between groups. This adds to the existing literature by providing new evidence for modifier pathway targets for possible therapeutic targets or drug repurposing in a rare genetic disorder.

25:[[["$","script","0",{"type":"application/ld+json","dangerouslySetInnerHTML":{"__html":"{\"@context\":\"https://schema.org\",\"@type\":\"CollectionPage\",\"name\":\"Cardiomyopathy: condition Research & Clinical Takeaways\",\"description\":\"Explore peer-reviewed papers on Cardiomyopathy (condition). Clinician-written summaries and actionable practice insights. 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In 3 patients where cardiac MRI missed CM, MCG findings matched endomyocardial biopsy results. Reproducibility was high (statistical uncertainty: 2.5%).","limitations":"Single-center prospective study with a relatively small patient cohort (n=110 suspected CM cases); control subjects were incorporated retrospectively via matching rather than prospectively enrolled; the MCG score threshold was derived from prior retrospective work by the same group, raising the risk of optimistic performance estimates.","practice_takeaway":"MCG may serve as a rapid, noninvasive first-pass screen for cardiomyopathy after ruling out ischemic disease — potentially guiding which patients warrant advanced imaging like cardiac MRI. Clinicians should note this is early-phase evidence; independent validation in larger, multi-center cohorts is needed before broad adoption."}},{"doi":"10.1161/cir.0000000000001450","pmid":"42339539","title":"Heart Failure Occurring in the Perinatal Period: A Scientific Statement From the American Heart Association","journal_title":"Circulation","journal_issn":"0009-7322","published_at":"2026-06-24T00:00:00.000Z","url":"https://doi.org/10.1161/cir.0000000000001450","source_score":19,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-07-01T13:27:22.482Z","updated_at":"2026-07-01T13:27:22.482Z","tags":[{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"age_group","value":"adult","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"category","value":"Cardiac & Cardiovascular Systems","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"condition","value":"Cardiomyopathy","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"condition","value":"Left Ventricular Systolic Dysfunction","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"condition","value":"Perinatal Heart Failure","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"condition","value":"Peripartum Cardiomyopathy","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"level_of_evidence","value":"7","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"modality","value":"Heart Failure Pharmacotherapy","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"sex","value":"female","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"study_design","value":"Scientific Statement / Expert Consensus","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"warning","value":"No sample size applicable — this is a scientific statement, not a primary study.","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"warning","value":"Prevalence figure of 1–2% cited refers to the general adult US population, not confirmed perinatal-specific prevalence.","value_numeric":null},{"paper_doi":"10.1161/cir.0000000000001450","tag_type":"warning","value":"The impact_flag 'practice_changing' reflects the AHA endorsement and call for standardized definitions/screening, not a specific clinical trial result.","value_numeric":null}],"summaries":{"what_studied":"This AHA scientific statement evaluates heart failure with reduced and mildly reduced ejection fraction during pregnancy and the postpartum period, focusing on definitions, diagnostic challenges, treatment standards, screening tools, and maternal health equity across various cardiomyopathies.","key_result":"The true incidence of perinatal heart failure is unknown; prevalence of left ventricular systolic dysfunction may reach 1–2% in the general adult US population. Diagnostic delays are common due to symptom overlap with normal pregnancy physiology (dyspnea, edema, fatigue), contributing to adverse maternal outcomes.","limitations":"No primary data are generated — this is a consensus/expert statement. The true perinatal incidence and prevalence remain undefined. Pregnant and postpartum individuals are systematically underrepresented in heart failure trials, limiting the evidence base.","practice_takeaway":"Clinicians should maintain a low threshold for cardiac workup when pregnant or postpartum patients present with dyspnea, exercise intolerance, or edema, as these overlap with normal pregnancy changes and can mask heart failure. Standardized diagnostic criteria and early initiation of evidence-based therapies are needed to reduce adverse maternal outcomes."}},{"doi":"10.1001/jamacardio.2026.1699","pmid":"42307907","title":"AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia","journal_title":"JAMA Cardiology","journal_issn":"2380-6583","published_at":"2026-06-17T00:00:00.000Z","url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13276668/","source_score":24,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-22T13:23:57.068Z","updated_at":"2026-06-22T13:23:57.068Z","tags":[{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"age_group","value":"adult","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"category","value":"Cardiac & Cardiovascular Systems","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"condition","value":"Cardiomyopathy","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"condition","value":"Friedreich Ataxia","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"generic","value":"AAVrh.10hFXN","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"modality","value":"AAV Gene Therapy","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"sample_size","value":"n=17","value_numeric":17},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"study_design","value":"Nonrandomized Clinical Trial","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"warning","value":"AAVrh.10hFXN is an investigational therapy without a commercial brand name at time of publication; no brand tag applied.","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"warning","value":"Full text was inaccessible (publisher page only); summary is based solely on the abstract and results excerpt provided.","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"warning","value":"One possible vector-related myocarditis event occurred at 12 months post-therapy — notably later than typical acute AAV immune reactions, which may affect post-treatment monitoring guidance.","value_numeric":null},{"paper_doi":"10.1001/jamacardio.2026.1699","tag_type":"warning","value":"The 'practice_changing' impact flag is applied cautiously — findings are preliminary from a small, non-randomized trial; no regulatory approval is reported.","value_numeric":null}],"summaries":{"what_studied":"Safety and preliminary efficacy of intravenous AAVrh.10hFXN gene therapy in 17 adults with Friedreich ataxia (FA) cardiomyopathy, tested across 3 dose cohorts (1.8×10¹¹, 5.6×10¹¹, and 1.2×10¹² vg/kg) in 2 pooled open-label dose-escalation trials with a mean follow-up of 20 months.","key_result":"All 4 serious adverse events resolved; cardiac FXN protein levels rose dose-dependently (cohort 1: +20%, cohort 2: +81%, cohort 3: +123% at 3 months). Left ventricular mass index (LVMI) fell ≥10% in 9 of 17 patients and stabilized in the remaining 8. Serum hs troponin I dropped ≥10% in 15 of 16 evaluable patients.","limitations":"- No randomized control arm, making it impossible to separate treatment effect from natural disease course.\n- Small sample (n=17) with short and variable follow-up (mean 20 months), limiting conclusions about durability and long-term safety.\n- Efficacy endpoints (LVMI, hs troponin I) are exploratory, not pre-specified primary outcomes.","practice_takeaway":"AAVrh.10hFXN appears well tolerated and shows early signs of cardiac benefit in FA, but clinicians should note the non-randomized design and small size — this is not yet a proven therapy. One case of possible vector-related myocarditis (at 12 months, fully resolved) warrants cardiac monitoring after dosing."}},{"doi":"10.1161/circresaha.125.327297","pmid":"41834725","title":"RHOT Proteins Link Mitochondrial Motility to Cardiomyocyte Sarcomere Maturation","journal_title":"Circulation Research","journal_issn":"0009-7330","published_at":"2026-03-16T00:00:00.000Z","url":"https://doi.org/10.1161/circresaha.125.327297","source_score":19,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-09T13:22:38.136Z","updated_at":"2026-05-09T13:22:38.136Z","tags":[{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"category","value":"Hematology","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"condition","value":"Cardiomyopathy","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"condition","value":"Heart Failure","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"condition","value":"Sarcomere Disarray","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"generic","value":"tamoxifen","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"level_of_evidence","value":"5","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"modality","value":"Genetic Knockout Model","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"study_design","value":"Animal Experimental Study","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"warning","value":"Sample sizes for individual experiments are not reported in the abstract or results summary; exact n values are in supplemental materials.","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"warning","value":"The 'practice_changing' impact flag reflects mechanistic novelty in basic science, not a change in clinical treatment guidelines.","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"warning","value":"The study used predominantly male mice for most adult time points; female data were collected but not the primary analysis.","value_numeric":null},{"paper_doi":"10.1161/circresaha.125.327297","tag_type":"warning","value":"This is a preclinical mouse study; direct clinical translation to human cardiomyopathy is not established.","value_numeric":null}],"summaries":{"what_studied":"This study tested whether RHOT1/2 proteins — outer mitochondrial membrane GTPases that link mitochondria to motor proteins — are required for mitochondrial positioning during cardiomyocyte development. Two mouse models were compared: embryonic cardiomyocyte-selective Rhot1/2 knockout (cRhot1/2-KO) and tamoxifen-inducible adult knockout (iRhot1/2-KO).","key_result":"Embryonic deletion of Rhot1/2 caused fatal cardiomyopathy with sarcomere disarray and perinuclear mitochondrial/ATP accumulation, despite preserved mitochondrial respiratory capacity. Adult inducible deletion impaired isolated mitochondria motility but left sarcomere structure, intracellular mitochondrial distribution, local ATP production, and cardiac function intact — the majority of cRhot1/2-KO mice died after 28 weeks.","limitations":"- Cre was driven by αMHC (Myh6), active from embryonic day 9.5, so the earliest developmental window of Rhot deletion could not be isolated; distinct early-embryonic targeting strategies were not tested.\n- Male mice were the primary focus for most time points; sex-specific differences were noted but not fully explored.\n- FRET-based ATP measurements required 48-hour adenoviral infection of isolated cardiomyocytes, which may itself alter bioenergetics.","practice_takeaway":"RHOT-mediated mitochondrial motility is critical only during cardiac development, not in the mature heart — this finding points to the developmental window as the relevant therapeutic target if RHOT dysfunction contributes to congenital or pediatric cardiomyopathy. Clinicians should be aware that mitochondrial respiratory capacity can be preserved even when mitochondrial positioning — and local ATP delivery to sarcomeres — is severely disrupted."}},{"doi":"10.1038/s41390-025-04683-w","pmid":"41501410","title":"Variant burden and severity of cardiomyopathy in patients with DMD-related Duchenne muscular dystrophy","journal_title":"Pediatric Research","journal_issn":"0031-3998","published_at":"2026-01-08T00:00:00.000Z","url":"https://doi.org/10.1038/s41390-025-04683-w","source_score":19,"is_retracted":false,"is_open_access":true,"raw_metadata":{"ooir":{"day":"2026-01-12","doi":"10.1038/s41390-025-04683-w","days":"7","issn":"0031-3998","rank":"10","field":"Clinical Medicine","score":"19","category":"Pediatrics","categories":["Pediatrics"],"_categories":["Pediatrics"]},"pubmed":{"doi":"10.1038/s41390-025-04683-w","title":"Variant burden and severity of cardiomyopathy in patients with DMD-related Duchenne muscular dystrophy.","journal":"Pediatric research","methods":"","results":"There were 54 DMD males in this analysis. 18 individuals (33%) had severe cardiomyopathy and 36 individuals (67%) had less severe cardiomyopathy. Nine genes were identified as possible cardiomyopathy severity modifiers: ANKLE1, ESRRA, FRAS1, GEMIN4, GXYLT1, MTCH2, PKD1L2, PRSS2 and QRFPR.","abstract":"$30","keywords":[],"pubmed_id":"41501410","conclusions":"DBGM summative C-Scores in well-phenotyped groups are a feasible exploratory method to identify genetic targets for additional study. There is preliminary evidence from this and other studies suggesting further evaluation of ESRRA, GEMIN4, and MTCH2 as modifiers of cardiomyopathy severity could advance understanding of DMD cardiomyopathy progression.","publication_date":"2026-01-08T00:00:00"},"crossref":{"DOI":"10.1038/s41390-025-04683-w","URL":"https://doi.org/10.1038/s41390-025-04683-w","ISSN":["0031-3998","1530-0447"],"link":[{"URL":"https://www.nature.com/articles/s41390-025-04683-w.pdf","content-type":"application/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https://www.nature.com/articles/s41390-025-04683-w","content-type":"text/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https://www.nature.com/articles/s41390-025-04683-w.pdf","content-type":"application/pdf","content-version":"vor","intended-application":"similarity-checking"}],"page":null,"type":"journal-article","issue":null,"score":1,"title":["Variant burden and severity of cardiomyopathy in patients with DMD-related Duchenne muscular dystrophy"],"author":[{"given":"Gabrielle C.","family":"Geddes","sequence":"first","affiliation":[]},{"given":"Stephanie M.","family":"Ware","sequence":"additional","affiliation":[]},{"given":"Tae-Hwi","family":"Schwantes-An","sequence":"additional","affiliation":[]},{"given":"Marco A.","family":"Abreu","sequence":"additional","affiliation":[]},{"given":"John J.","family":"Parent","sequence":"additional","affiliation":[]},{"given":"Conner C.","family":"Earl","sequence":"additional","affiliation":[]},{"given":"Jonathan H.","family":"Soslow","sequence":"additional","affiliation":[]},{"given":"Larry W.","family":"Markham","sequence":"additional","affiliation":[]}],"issued":{"date-parts":[[2026,1,7]]},"member":"297","prefix":"10.1038","source":"Crossref","volume":null,"created":{"date-time":"2026-01-07T10:23:14Z","timestamp":1767781394000,"date-parts":[[2026,1,7]]},"indexed":{"date-time":"2026-01-08T00:04:32Z","timestamp":1767830672516,"date-parts":[[2026,1,8]]},"license":[{"URL":"https://creativecommons.org/licenses/by/4.0","start":{"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000,"date-parts":[[2026,1,7]]},"delay-in-days":0,"content-version":"tdm"},{"URL":"https://creativecommons.org/licenses/by/4.0","start":{"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000,"date-parts":[[2026,1,7]]},"delay-in-days":0,"content-version":"vor"}],"subject":[],"abstract":"$31","language":"en","relation":{},"resource":{"primary":{"URL":"https://www.nature.com/articles/s41390-025-04683-w"}},"subtitle":[],"assertion":[{"name":"received","group":{"name":"ArticleHistory","label":"Article History"},"label":"Received","order":1,"value":"30 May 2025"},{"name":"revised","group":{"name":"ArticleHistory","label":"Article History"},"label":"Revised","order":2,"value":"8 October 2025"},{"name":"accepted","group":{"name":"ArticleHistory","label":"Article History"},"label":"Accepted","order":3,"value":"20 November 2025"},{"name":"first_online","group":{"name":"ArticleHistory","label":"Article History"},"label":"First Online","order":4,"value":"7 January 2026"},{"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"},"order":1,"value":"J.S. has worked as a consultant for: Boerhinger Ingelheim, Capricor, Dyne, Fibrogen, Immunoforge, Sardocor and Sarepta. 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