PMID- 29862154
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2186-3644 (Print)
IS  - 2186-361X (Electronic)
IS  - 2186-3644 (Linking)
VI  - 7
IP  - 2
DP  - 2018 May
TI  - Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin 
      deletion of exons 12-29.
PG  - 120-125
LID - 10.5582/irdr.2018.01003 [doi]
AB  - Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest 
      clinically in the skeletal muscle, the heart, or both. Cardiac involvement may 
      manifest before, after, or together with the muscle manifestations. A 46y female 
      developed slowly progressive weakness of the lower and upper limbs with 
      left-sided predominance since age 26y. Muscle enzymes were repeatedly elevated 
      and muscle biopsy showed absence of dystrophin. MLPA analysis revealed a deletion 
      of exons 12-29. After starting steroids at age 39y, she developed palpitations 
      and exertional dyspnoea. Cardiac MRI at age 41y revealed mildly reduced systolic 
      function, a slightly enlarged left ventricle, mild hypokinesia of the entire 
      myocardium, and focal, transmural late gadolinium enhancement (LGE) of the 
      midventricular lateral wall. She did not tolerate beta-blockers but profited from 
      ivabradine and lisinopril. In conclusion, muscle manifestations in DMD-carriers 
      with deletions of exons 12-29 may start years before cardiac involvement becomes 
      clinically apparent. Progressive worsening of systolic function in DMD-carriers 
      is attributable to progressive myocardial fibrosis, as demonstrated by LGE. 
      Steroids may trigger the development of cardiac disease in DMD-carriers.
FAU - Finsterer, Josef
AU  - Finsterer J
AD  - Krankenanstalt Rudolfstiftung, Vienna, Austria.
FAU - Stollberger, Claudia
AU  - Stollberger C
AD  - 2nd Medical Department with Cardiology and Intensive Care Medicine, 
      Krankenanstalt Rudolfstiftung, Vienna, Austria.
FAU - Freudenthaler, Birgit
AU  - Freudenthaler B
AD  - 2nd Medical Department with Cardiology and Intensive Care Medicine, 
      Krankenanstalt Rudolfstiftung, Vienna, Austria.
FAU - Simoni, Desiree De
AU  - Simoni D
AD  - Institute of Neurology, Medical University of Vienna, Vienna, Austria.
FAU - Hoftberger, Romana
AU  - Hoftberger R
AD  - Institute of Neurology, Medical University of Vienna, Vienna, Austria.
FAU - Wagner, Klaus
AU  - Wagner K
AD  - Institute for Human Genetics, Medical University of Graz, Graz, Austria.
LA  - eng
PT  - Case Reports
PL  - Japan
TA  - Intractable Rare Dis Res
JT  - Intractable & rare diseases research
JID - 101586847
PMC - PMC5982619
OTO - NOTNLM
OT  - Duchenne muscular dystrophy
OT  - X-chromosomal
OT  - cardiac involvement
OT  - carrier
OT  - dystrophin
OT  - heart failure
OT  - myopathy
EDAT- 2018/06/05 06:00
MHDA- 2018/06/05 06:01
PMCR- 2018/05/01
CRDT- 2018/06/05 06:00
PHST- 2018/06/05 06:00 [entrez]
PHST- 2018/06/05 06:00 [pubmed]
PHST- 2018/06/05 06:01 [medline]
PHST- 2018/05/01 00:00 [pmc-release]
AID - 10.5582/irdr.2018.01003 [doi]
PST - ppublish
SO  - Intractable Rare Dis Res. 2018 May;7(2):120-125. doi: 10.5582/irdr.2018.01003.