Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. Methods and results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5–311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. Conclusions: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy

Ein Projektbericht über die Umstellung von Präsenz- auf Online-Unterricht des Vorbereitungskurses auf die Kenntnisprüfung für ausländische ÄrztInnen - Anleitung für die Gestaltung des Online-Sommersemesters 2020 an der Medizinischen Fakultät der Westfälischen Wilhelms-Universität Münster

Introduction: In Germany, foreign physicians are a fixed component of the medical profession. According to the German Medical Licensure Act, physicians having completed their qualification in another country are required to pass a knowledge examination which falls within the competence of examination offices or the regional governments.Project outline: The preparatory course consists of 10 modules. On Fridays, individual cases are discussed in small groups and specific examination techniques are trained. On Saturdays, illnesses are simulated by simulated patients. After each encounter, faculty experts, psychologists and peer group members provide the participants with 360° feedback.Due to the COVID-19 pandemic, the course which had been established 2 years beforehand has now been switched to an online class within one week. Friday units were visualized in power-point presentations and tutorial videos were discussed. On Saturdays, the cases were simulated by simulated patients and transmitted via a telemedicine platform.Results: The course could be conducted without interruptions (75 hours of in-class tuition and 75 hours of online tuition). In the oral evaluation the participants criticized telemedicine as a medium for imparting of practical skills. 7/22 (32%) of the participants underwent the knowledge examination and 6/7 (86%) of them passed it (versus 18/19 of the participants of in-class tuition (95%)).Discussion: There was a clear preference for in-class tuition. It was noted that the telemedical setting entailed some restrictions. However, the switch to online classes did not affect the pass rate.Conclusion: The switch from in-class to online units was feasible. The gained insights were taken into account when conceiving the online semester at our faculty and especially the tuition with the support of simulated patients.Einleitung: Ausländische ÄrztInnen sind in Deutschland fester Bestandteil der Ärzteschaft. ÄrztInnen mit einer Ausbildung aus einem Drittstaat müssen laut der Approbationsordnung für Ärzte eine Kenntnisprüfung ablegen, für die die Landesprüfungsämter oder die Bezirksregierungen zuständig sind. Projektbeschreibung: Der Vorbereitungskurs besteht aus 10 Modulen. Freitags werden Fälle in Kleingruppen besprochen und fachspezifische Untersuchungstechniken geübt. Samstags werden mit SimulationspatientInnen bestimmte Krankheiten simuliert. Nach der Interaktion bekommen die TeilnehmerInnen ein 360°-Feedback von FachdozentInnen, PsychologInnen und KollegInnen aus der Gruppe.Durch die Corona-Pandemie wurde der schon seit 2 Jahren bestehende Kurs innerhalb von einer Woche auf ein Onlineformat umgestellt. Die Freitagseinheiten wurden mit Power-Point visualisiert und Lernvideos besprochen. Samstags wurden die Fälle mit SimulationspatientInnen telemedizinisch simuliert. Ergebnisse: Der Kurs konnte ohne Unterbrechung durchgeführt werden (75 Stunden als Präsenz-, 75 Stunden als Online-Unterricht). In der mündlichen Evaluation der TeilnehmerInnen wurde die telemedizinische Vermittlung von praktischen Fertigkeiten bemängelt. 7/22 (32%) der TeilnehmerInnen haben an der Kenntnisprüfung teilgenommen, 6/7 (86%) haben die Prüfung bestanden (in Präsenzunterricht 18/19 (95%)).Diskussion: Der Präsenzunterricht wurde eindeutig präferiert. Es wurden Einschränkungen durch das telemedizinische Setting festgestellt. Die Bestehungsquote hat sich durch die Umstellung nicht verändert.Schlussfolgerung: Die Umstellung von Präsenzeinheiten auf Online war möglich. Die Erfahrungen flossen in die Entwicklung der Online-Semester an unserer Fakultät ein, insbesondere der Unterricht mit den SimulationspatientInnen

Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. Methods and results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5–311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. Conclusions: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy