title: Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T.
abstract: OBJECTIVE
  So far, a beneficial effect of combined angiotensin-converting enzyme inhibitors (ACEI) and β-blocker therapy for systolic dysfunction in Duchenne muscular dystrophy (DMD) has been reported only in patients in whom DMD was due to deletions in the dystrophin gene.
  
  
  METHODS
  In a 24-year-old male with DMD due to the point mutation c.4213C>T (p.Gln1405X) in exon 30 of the dystrophin gene, cardiologic examination at the age of 23 years revealed asymptomatic severely reduced systolic dysfunction with a fractional shortening of 14% in the absence of dilated cardiomyopathy. A combined therapy with enalapril (2.5 mg/day) and bisoprolol (1.25 mg/day) was initiated. After a slow increase in the dosage to 10 mg enalapril/day and 2.5 mg bisoprolol/day, systolic dysfunction resolved to a fractional shortening of 26% already after 7 months.
  
  
  CONCLUSIONS
  This case shows that asymptomatic reduced systolic function also in patients with DMD due to a point mutation responds favourably to a combination therapy with ACEI and β-blockers.
authors.affiliation: Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
authors.forename: Elke
authors.initials: E
authors.lastname: Holinski-Feder
mesh_terms: D000328:Adult; D000959:Antihypertensive Agents / Q000008:administration & dosage*; D017298:Bisoprolol / Q000008:administration & dosage*; D004359:Drug Therapy, Combination; D004656:Enalapril / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000188:drug therapy; D017354:Point Mutation; D013599:Systole; D016896:Treatment Outcome; D018487:Ventricular Dysfunction, Left / Q000188:drug therapy* / Q000209:etiology
chemical_list: D000959:Antihypertensive Agents; D004656:Enalapril; D017298:Bisoprolol