Re observed among the respective groups with different types of dystrophin
Re observed among the respective groups with different types of dystrophin gene mutations. Interestingly, patients with dystrophin deletions affecting exons 50 and/or 51 demonstrated more frequently absence of LGE (67 , N = 10, p = 0.015). In contrast, patients withdystrophin duplications showed more frequently presence of LGE (91 N = 10, p = 0.047) (Figure 3). Moreover, mean LGE extent was significantly higher in patients with dystrophin gene duplications compared to those with dystrophin deletions affecting exons 50 and/or 51 (3 ?5 vs. 17 ?12 , post-hoc p = 0.040). There was no significant difference in the LGE pattern among the different types of dystrophin gene defects (p = 0.70).Discussion To the best of our knowledge, this is the first follow-up study including DMD and BMD patients that aimed toFlorian et al. Journal of Cardiovascular Magnetic Resonance 2014, 16:81 http://jcmr-online.com/content/16/1/Page 8 ofTable 6 Distribution of dystrophin gene mutation types in the study populationDystrophin gene mutation type Deletions affecting the amino-terminal domain, n ( ) Deletions affecting exons 45?9, n ( ) Deletions affecting exons 50 and/or 51, n ( ) Duplication, n ( ) Point mutation, n ( ) Other, n ( ) Total (N = 81) 11 (14) 30 (37) 15 (19) 11 (14) 4 (5) 10 (12) DMD (N = 20) 1 (5) 1 (5) 8 (40) 4 (20) 2 (10) 4 (20) BMD (N = 61) 10 (16) 29 (48) 7 (12) 7 (12) 2 (3) 6 (10) p-value 0.28 <0.001 0.008 0.45 0.25 0.DMD ?Duchene muscular PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/27385778 dystrophy; BMD ?Becker muscular dystrophy. Bold numbers indicate significant p-values/parameters.evaluate the cardiac phenotype (based on CMR studies) in relation to the underlying genotype and to identify independent predictors for adverse cardiac events in a mid- to long-term follow-up period of approximately four years. We could show that the degree of LV systolic dysfunction bears the strongest (independent) predictive value for adverse cardiac events in DMD/BMD patients. Moreover, the addition of the simple, visually assessable CMR parameter “presence of transmural LGE” showed important independent as well as additive value in the further risk stratification of DMD/BMD patients.The frequency of cardiac disease was similar for both DMD and BMD patients in our study group. However, BMD patients demonstrated a more buy CEP-37440 advanced stage of cardiac disease compared to the DMD group. This finding is easily explained by the age-dependent occurrence and progression of cardiac disease in DMD/BMD and by the fact that DMD patients were significantly younger [4,20]. The predominance of isolated LGE in the subepicardium of the LV lateral free wall in DMD patients further confirms the early nature of this pattern in the course of cardiomyopathy development whereas additional septal LGE and/or transmural LGE in the LV lateral free wall mostly occurs in advanced stages [19].Occurrence of endpoints and risk stratification for adverse eventsCardiac involvement in muscular dystrophy patients as assessed by CMRThe current study findings are in accordance with previously published reports, revealing cardiac involvement as defined by an impaired LV-EF and/or the presence of LGE in approximately 70 of DMD/BMD patients [1,4,18]. Similarly to what has been previously shown, occurrence of LGE – with a predominance in the subepicardium of the LV lateral free wall – preceded LV systolic dysfunction in the majority of the patients. Thus, LGECMR was shown once again to be a sensitive tool for early detection of cardiac involvement in.