BACKGROUND: Mutations in the X-linked gene encoding dystrophin cause skeletal and cardiac muscle diseases in men. Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers. METHODS: Twenty-four dystrophinopathy heterozygotes and 24 normal women each underwent standard exercise stress echocardiography. RESULTS: Heterozygotes demonstrated mildly lower left ventricular ejection fractions (LVEFs) at rest compared with controls (0.56 + or - 0.10 vs 0.62 + or - 0.07, P = .02). After exercise, the mean LVEF fell to 0.53 + or - 0.14 in heterozygotes but rose to 0.73 + or - 0.07 in controls (P < .001). Twenty-one of 24 dystrophinopathy heterozygotes demonstrated > or = 1 of the following: abnormal resting LVEF, abnormal LVEF response to exercise, or exercise-induced wall motion abnormality. CONCLUSIONS: Women heterozygous for dystrophinopathy demonstrate significant left ventricular systolic dysfunction, which is unmasked by exercise. This finding has mechanistic implications for both inherited and acquired cardiac disease states. Copyright 2010 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.
BACKGROUND: Mutations in the X-linked gene encoding dystrophin cause skeletal and cardiac muscle diseases in men. Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers. METHODS: Twenty-four dystrophinopathy heterozygotes and 24 normal women each underwent standard exercise stress echocardiography. RESULTS: Heterozygotes demonstrated mildly lower left ventricular ejection fractions (LVEFs) at rest compared with controls (0.56 + or - 0.10 vs 0.62 + or - 0.07, P = .02). After exercise, the mean LVEF fell to 0.53 + or - 0.14 in heterozygotes but rose to 0.73 + or - 0.07 in controls (P < .001). Twenty-one of 24 dystrophinopathy heterozygotes demonstrated > or = 1 of the following: abnormal resting LVEF, abnormal LVEF response to exercise, or exercise-induced wall motion abnormality. CONCLUSIONS:Women heterozygous for dystrophinopathy demonstrate significant left ventricular systolic dysfunction, which is unmasked by exercise. This finding has mechanistic implications for both inherited and acquired cardiac disease states. Copyright 2010 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.
Authors: E M Hoogerwaard; E Bakker; P F Ippel; J C Oosterwijk; D F Majoor-Krakauer; N J Leschot; A J Van Essen; H G Brunner; P A van der Wouw; A A Wilde; M de Visser Journal: Lancet Date: 1999-06-19 Impact factor: 79.321
Authors: Sharon Ann Hunt; William T Abraham; Marshall H Chin; Arthur M Feldman; Gary S Francis; Theodore G Ganiats; Mariell Jessup; Marvin A Konstam; Donna M Mancini; Keith Michl; John A Oates; Peter S Rahko; Marc A Silver; Lynne Warner Stevenson; Clyde W Yancy; Elliott M Antman; Sidney C Smith; Cynthia D Adams; Jeffrey L Anderson; David P Faxon; Valentin Fuster; Jonathan L Halperin; Loren F Hiratzka; Alice K Jacobs; Rick Nishimura; Joseph P Ornato; Richard L Page; Barbara Riegel Journal: Circulation Date: 2005-09-13 Impact factor: 29.690
Authors: Shemy Carasso; Hua Yang; Anna Woo; Michal Jamorski; E Douglas Wigle; Harry Rakowski Journal: J Am Soc Echocardiogr Date: 2010-02 Impact factor: 5.251
Authors: R Coral-Vazquez; R D Cohn; S A Moore; J A Hill; R M Weiss; R L Davisson; V Straub; R Barresi; D Bansal; R F Hrstka; R Williamson; K P Campbell Journal: Cell Date: 1999-08-20 Impact factor: 41.582
Authors: L Politano; V Nigro; G Nigro; V R Petretta; L Passamano; S Papparella; S Di Somma; L I Comi Journal: JAMA Date: 1996-05-01 Impact factor: 56.272