Diagnostik kardialer Erkrankungen bei Konduktorinnen der Muskeldystrophie Typ Duchenne bzw. Typ Becker-Kiener durch routinemäßigen Einsatz der kardialen Magnetresonanztomographie

Abstract

BACKGROUND & OBJECTIVES The muscular dystrophy type Duchenne and type Becker-Kiener is an inherited X-chromosomal disease. The lack (DMD) or an insufficient (BMD) expression of dystrophin leads to this disease, because the information for dystrophin lies on the short arm of the X-chromosom (Xp21), therefore basically the male sex is diseased. Coronary failure is the most common cause of death. Not only male patients, but also carriers can show movement disorders and dilatative cardiomyopathies. That’s why it is of crucial importance to examine all carriers. The basic aim of this investigation was to show the incidence and dimension of heart disease in carriers of DMD and DMD based of a noninvasive CMR-examination. METHODS Mothers and sisters of DMD and BMD patients underwent irrespective of their symptoms a cardiological examination which contained amongst others a multiparametic cardiovascular magnetresonanztomography (CMR). Dimension and function of their hearts were evaluated by SSFP- gradient echo sequence. Late enhancement can be determined dy T1-weighted IR-FLASH- gradient echo sequence with gadolinum contrast agent, which indicate fribromatous and adipouse tissue. RESULTS 26 carriers of musculardystrophy (16 DMD,10 BMD) median follow-up of 43 years (range 22-72 years) were examined by ce-CMR. Following results were found: Increased CK (56% DMD, 30% BMD), pathological CMR findings (containing degraded LV- and RV function and/or late gadolinium enhanchement(LGE)) (69% DMD, 20% BMD) and myocardial damage in 56% of DMD carriers, 67% of these had wall motion abnormalities. That means that 50% of all DMD carriers show wall motion abnormalities. All damage is found in subepicardial parts of the inferolateral wall. This is similar to male DMD patients. CONCLUSIONS Coronary failure is the most common cause of death in male DMD and BMD patients. 50% of the examined DMD carriers show pathological CMR findings (as defined by LV- or RV-descent and/or myocardial damage) The damage is similar to findings of DMD/BMD patients . That’s why cardiac sickness could be prognostic relevant. This thesis must be verified in future studies. Frequent cardiac examinations are nessassary to detect early cardial dysfunction and to give sufficient medication. In case of no damage, the patient can be examined every 5 years, in the other case, when there is a damage the patient should be examined every year.