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@ARTICLE{Oder:131599,
      author       = {D. Oder and D. Liu and K. Hu and N. Üçeyler and T.
                      Salinger and J. Müntze and K. Lorenz and R. Kandolf and
                      H.-J. Gröne$^*$ and C. Sommer and G. Ertl and C. Wanner and
                      P. Nordbeck},
      title        = {α-{G}alactosidase {A} {G}enotype {N}215{S} {I}nduces a
                      {S}pecific {C}ardiac {V}ariant of {F}abry {D}isease.},
      journal      = {Circulation / Cardiovascular genetics},
      volume       = {10},
      number       = {5},
      issn         = {1942-3268},
      address      = {Philadelphia, Pa.},
      publisher    = {Lippincott, Williams $\&$ Wilkins},
      reportid     = {DKFZ-2017-06231},
      pages        = {e001691 -},
      year         = {2017},
      note         = {Herz-Kreislauf},
      abstract     = {Hypertrophic cardiomyopathy is the most common type of
                      cardiomyopathy, but many patients lack
                      sarcomeric/myofilament mutations. We studied whether
                      cardio-specific α-galactosidase A gene variants are
                      misinterpreted as hypertrophic cardiomyopathy because of the
                      lack of extracardiac organ involvement.All subjects who
                      tested positive for the N215S genotype (n=26, 13 females,
                      mean age 49±17 [range, 14-74] years) were characterized in
                      this prospective monocentric longitudinal cohort study to
                      determine genotype-specific clinical characteristics of the
                      N215S (c.644A>G [p.Asn215Ser]) α-galactosidase A gene
                      variant. All subjects were initially referred with suspicion
                      of genetically determined hypertrophic cardiomyopathy.
                      Cardiac hypertrophy (interventricular septum, 12±4 [7-23]
                      mm; left ventricular posterior wall, 11±4 [7-21] mm; left
                      ventricular mass, 86±41 [46-195] g/m2) was progressive,
                      systolic function mainly preserved (cardiac index 2.8±0.6
                      [1.9-3.9] L/min per m2), and diastolic function mildly
                      abnormal. Cardiac magnetic resonance imaging revealed
                      replacement fibrosis in loco typico (18/26, $69\%),$
                      particularly in subjects >50 years. Elderly subjects had
                      advanced heart failure, and 6 $(23\%)$ were suggested for
                      implantable cardioverter-defibrillator therapy. Leukocyte
                      α-galactosidase A enzyme activity was mildly reduced in 19
                      subjects and lyso-globotriaosylceramide slightly elevated
                      (median, 4.9; interquartile range, 1.3-9.1 ng/mL).
                      Neurological and renal impairments (serum creatinine,
                      0.87±0.20; median, 0.80; interquartile range, 0.70-1.01
                      mg/dL; glomerular filtration rate, 102±23; median, 106;
                      interquartile range, 84-113 mL/min) were discreet. Only 2
                      subjects developed clinically relevant
                      proteinuria.α-Galactosidase A genotype N215S does not lead
                      to the development of a classical Fabry phenotype but
                      induces a specific cardiac variant of Fabry disease
                      mimicking nonobstructive hypertrophic cardiomyopathy. The
                      lack of prominent noncardiac impairment leads to a
                      significant delay in diagnosis and Fabry-specific therapy.},
      cin          = {G130},
      ddc          = {610},
      cid          = {I:(DE-He78)G130-20160331},
      pnm          = {322 - Genetics and Pathophysiology (POF3-322)},
      pid          = {G:(DE-HGF)POF3-322},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29018006},
      doi          = {10.1161/CIRCGENETICS.116.001691},
      url          = {https://inrepo02.dkfz.de/record/131599},
}