Ni Liu, Kai Yang, Guijuan Cao, Zixian Chen, Gang Yin, Wenhao Dong, Xiang Wang, Jinghui Li, Minjie Lu
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{"title":"Danon病性别特异性心脏磁共振表型：一项回顾性队列研究","authors":"Ni Liu, Kai Yang, Guijuan Cao, Zixian Chen, Gang Yin, Wenhao Dong, Xiang Wang, Jinghui Li, Minjie Lu","doi":"10.1002/jmri.70102","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Danon disease (DD), an X-linked disorder due to lysosome-associated membrane protein 2 (LAMP2) mutations, features life-threatening cardiomyopathy. Sex-based cardiac magnetic resonance (cardiac MR) differences are recognized but lack quantitative analysis despite their critical importance in establishing sex-specific diagnostic thresholds and personalized treatment strategies.</p><p><strong>Purpose: </strong>To investigate sex-based differences in cardiac MR manifestations in DD.</p><p><strong>Study type: </strong>Retrospective.</p><p><strong>Subjects: </strong>24 DD patients (15 males, 9 females; January 2018-February 2025).</p><p><strong>Field strength/sequence: </strong>3-T, cine imaging (gradient-echo sequence), late gadolinium enhancement (LGE) imaging (inversion-recovery gradient-echo sequence), T1 mapping (modified look-locker inversion-recovery gradient-echo sequence), T2 mapping (gradient-echo sequence with T2 preparation).</p><p><strong>Assessment: </strong>Standardized cardiac MR assessed structural indices (LV volumes/mass, wall thickness), functional metrics (EF, strain), and tissue characterization (late gadolinium enhancement [LGE extent, T1/T2 values]).</p><p><strong>Statistical tests: </strong>Sex comparisons used independent t-tests/Mann-Whitney U for continuous variables; Chi-square/Fisher's exact for categorical variables. p < 0.05 significant.</p><p><strong>Results: </strong>Males predominantly developed hypertrophic cardiomyopathy (HCM: 73.3%), whereas females universally exhibited dilated cardiomyopathy (DCM: 88.9%) with preserved septal thickness. Ventricular arrhythmias occurred in all females (100% vs. 73.3% in males). Females showed significantly worse left ventricular ejection fraction (LVEF: 37.0% ± 14.0% vs. 49.9% ± 17.9%). Cardiac MR revealed extensive LGE (21.9% ± 11.4%, diffuse free-wall involvement), elevated extracellular volume (ECV) (ECV: 38% ± 12%), and significantly prolonged T1/T2 values (1374 ± 60 ms/46.5 ± 5.4 ms; T1 was higher in females). Global longitudinal strain (GLS: -6.5% ± 4.0%), radial strain (GRS: 16.9% ± 12.2%), and circumferential strain (GCS: -10.6% ± 5.7%) were reduced, with significantly worse systolic impairment in females.</p><p><strong>Data conclusion: </strong>Sex-specific cardiac MR patterns exist in DD: males predominantly develop HCM, whereas females primarily exhibit DCM, with apical/free wall LGE observed in both sexes, though mid-basal septum sparing is more frequent in males. These findings enable sex-stratified early diagnosis and phenotype-tailored surveillance, guiding clinical management.</p><p><strong>Evidence level: </strong>4.</p><p><strong>Technical efficacy: </strong>Stage 2.</p>","PeriodicalId":16140,"journal":{"name":"Journal of Magnetic Resonance Imaging","volume":" ","pages":""},"PeriodicalIF":3.5000,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sex-Specific Cardiac Magnetic Resonance Phenotypes in Danon Disease: A Retrospective Cohort Study.\",\"authors\":\"Ni Liu, Kai Yang, Guijuan Cao, Zixian Chen, Gang Yin, Wenhao Dong, Xiang Wang, Jinghui Li, Minjie Lu\",\"doi\":\"10.1002/jmri.70102\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Danon disease (DD), an X-linked disorder due to lysosome-associated membrane protein 2 (LAMP2) mutations, features life-threatening cardiomyopathy. Sex-based cardiac magnetic resonance (cardiac MR) differences are recognized but lack quantitative analysis despite their critical importance in establishing sex-specific diagnostic thresholds and personalized treatment strategies.</p><p><strong>Purpose: </strong>To investigate sex-based differences in cardiac MR manifestations in DD.</p><p><strong>Study type: </strong>Retrospective.</p><p><strong>Subjects: </strong>24 DD patients (15 males, 9 females; January 2018-February 2025).</p><p><strong>Field strength/sequence: </strong>3-T, cine imaging (gradient-echo sequence), late gadolinium enhancement (LGE) imaging (inversion-recovery gradient-echo sequence), T1 mapping (modified look-locker inversion-recovery gradient-echo sequence), T2 mapping (gradient-echo sequence with T2 preparation).</p><p><strong>Assessment: </strong>Standardized cardiac MR assessed structural indices (LV volumes/mass, wall thickness), functional metrics (EF, strain), and tissue characterization (late gadolinium enhancement [LGE extent, T1/T2 values]).</p><p><strong>Statistical tests: </strong>Sex comparisons used independent t-tests/Mann-Whitney U for continuous variables; Chi-square/Fisher's exact for categorical variables. p < 0.05 significant.</p><p><strong>Results: </strong>Males predominantly developed hypertrophic cardiomyopathy (HCM: 73.3%), whereas females universally exhibited dilated cardiomyopathy (DCM: 88.9%) with preserved septal thickness. Ventricular arrhythmias occurred in all females (100% vs. 73.3% in males). Females showed significantly worse left ventricular ejection fraction (LVEF: 37.0% ± 14.0% vs. 49.9% ± 17.9%). Cardiac MR revealed extensive LGE (21.9% ± 11.4%, diffuse free-wall involvement), elevated extracellular volume (ECV) (ECV: 38% ± 12%), and significantly prolonged T1/T2 values (1374 ± 60 ms/46.5 ± 5.4 ms; T1 was higher in females). Global longitudinal strain (GLS: -6.5% ± 4.0%), radial strain (GRS: 16.9% ± 12.2%), and circumferential strain (GCS: -10.6% ± 5.7%) were reduced, with significantly worse systolic impairment in females.</p><p><strong>Data conclusion: </strong>Sex-specific cardiac MR patterns exist in DD: males predominantly develop HCM, whereas females primarily exhibit DCM, with apical/free wall LGE observed in both sexes, though mid-basal septum sparing is more frequent in males. 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Sex-Specific Cardiac Magnetic Resonance Phenotypes in Danon Disease: A Retrospective Cohort Study.
Background: Danon disease (DD), an X-linked disorder due to lysosome-associated membrane protein 2 (LAMP2) mutations, features life-threatening cardiomyopathy. Sex-based cardiac magnetic resonance (cardiac MR) differences are recognized but lack quantitative analysis despite their critical importance in establishing sex-specific diagnostic thresholds and personalized treatment strategies.
Purpose: To investigate sex-based differences in cardiac MR manifestations in DD.
Study type: Retrospective.
Subjects: 24 DD patients (15 males, 9 females; January 2018-February 2025).
Field strength/sequence: 3-T, cine imaging (gradient-echo sequence), late gadolinium enhancement (LGE) imaging (inversion-recovery gradient-echo sequence), T1 mapping (modified look-locker inversion-recovery gradient-echo sequence), T2 mapping (gradient-echo sequence with T2 preparation).
Assessment: Standardized cardiac MR assessed structural indices (LV volumes/mass, wall thickness), functional metrics (EF, strain), and tissue characterization (late gadolinium enhancement [LGE extent, T1/T2 values]).
Statistical tests: Sex comparisons used independent t-tests/Mann-Whitney U for continuous variables; Chi-square/Fisher's exact for categorical variables. p < 0.05 significant.
Results: Males predominantly developed hypertrophic cardiomyopathy (HCM: 73.3%), whereas females universally exhibited dilated cardiomyopathy (DCM: 88.9%) with preserved septal thickness. Ventricular arrhythmias occurred in all females (100% vs. 73.3% in males). Females showed significantly worse left ventricular ejection fraction (LVEF: 37.0% ± 14.0% vs. 49.9% ± 17.9%). Cardiac MR revealed extensive LGE (21.9% ± 11.4%, diffuse free-wall involvement), elevated extracellular volume (ECV) (ECV: 38% ± 12%), and significantly prolonged T1/T2 values (1374 ± 60 ms/46.5 ± 5.4 ms; T1 was higher in females). Global longitudinal strain (GLS: -6.5% ± 4.0%), radial strain (GRS: 16.9% ± 12.2%), and circumferential strain (GCS: -10.6% ± 5.7%) were reduced, with significantly worse systolic impairment in females.
Data conclusion: Sex-specific cardiac MR patterns exist in DD: males predominantly develop HCM, whereas females primarily exhibit DCM, with apical/free wall LGE observed in both sexes, though mid-basal septum sparing is more frequent in males. These findings enable sex-stratified early diagnosis and phenotype-tailored surveillance, guiding clinical management.
Evidence level: 4.
Technical efficacy: Stage 2.
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