The heart in XXXX dystrophinopathies.

@entity1 @entity5433 @entity82 @entity712 @entity943 @entity296 @entity944 @entity1555 @entity4714 @entity1162 @entity7129 @entity204 @entity1002 @entity34195
Dystrophinopathies are due to mutations in the @entity4714 gene on chromosome Xp21.1 and comprise the allelic entities @entity1555 ( @entity1555 ), @entity1555 ( @entity1555 ) and @entity34195 ( @entity34195 ). In all three entities, the heart is affected to various degrees, depending on the stage of the disease and the type of the mutation (cardiac involvement, CI). The pathoanatomic evidence of CI in dystrophinopathies is the replacement of myocardium by connective tissue or fat. In @entity1555 / @entity1555 , the left ventricular posterobasal and lateral walls are most extensively affected, sparing the right ventricle and the atrium. Degree and dynamics of CI vary among the three entities. In @entity1555 / @entity1555 , CI usually remains subclinical in the early stages of the disease. Typical initial manifestations of CI in @entity1555 / @entity1555 are @entity7129 , tall R1 in V1, prominent Q in I, aVL, V6 or in II, III, and aVF, @entity1162 and possibly @entity5433 . Initially, echocardiography is normal or shows regional wall motion abnormalities in areas of @entity82 . With spreading of @entity82 , @entity1002 and @entity943 additionally occur. In the final stages of the disease, systolic function may lead to @entity712 and @entity944 . Subclinical or clinical CI is present in about 90% of the @entity1555 / @entity1555 @entity1 but is the cause of @entity204 in only 20% of the @entity1555 and 50% of the @entity1555 @entity1 . @entity34195 is a rapidly progressive, almost exclusively @entity296 , starting in teenage males as @entity712 due to dilative @entity296 ( @entity296 ), leading to @entity204 from intractable @entity712 within 1-2 years after diagnosis. Therapy of @entity943 and @entity296 in all three disorders follows the established cardiological recommendations. Due to its protective effect, ACE inhibitors are recommended already at the early stages of the disease. Beta-blockers may be an additional option if indicated.
