Avtor/Urednik		Verovnik, Franc; Benko, Davorin; Vujkovac, Bojan
Naslov		Spremembe na srcu pri bolnikih s Fabryjevo boleznijo v Sloveniji
Prevedeni naslov		Cardiac manifestations in Fabry patients in Slovenia
Tip		članek
Vir		Slov Kardiol
Vol. in št.		Letnik 2, št. 1
Leto izdaje		2005
Obseg		str. 30-4
Jezik		slo
Abstrakt		Background and aim of the study. Five families with Fabry disease (FD) have been found in Slovenia so far. The aim of the study was to determine the cardiac manifestations in our Fabry patients. Methods. All the family members with FD confirmed by enzymatic essay were examined. Clinical examination, laboratory tests, 12 channel ECG, echocardiographic studies, ultrasound examinations of periferal vessels and abdomen, spirometry, exercise testing and Holter monitoring were performed. Results. We examined 15 women with mean age 40+/-17 years. Echocardiography revealed left ventricular hypertrophy (LVH) in 3 of them and valvular disorders in 7. One had arterial hypertension and 2 significant arrhythmias. Because the exercise testings were prematurely stopped the diagnostic value of the results was lessened. The mean age of 7 men was 39 +/- 8 years. Five of them had LVH and in 6 there was some vatvular disorder. One had arterial hypertension and none had significant arrhythmia. Exercise testing revealed myocardial ischaemia in one, was stopped prematurely in 3 because of the pains in legs, and was normal in 2 probands. Conclusions. FD is inherited genetic disorder of glycosphingolipid catabolism affecting all human organs. LVH is typical cardiac manifestation of the accumulation of neutral glycosingolipids in myocardium. Often various valvular and conduction defects are present. Whenever a LVH without obvious clinical cause is found, the possible diagnostic option is also FD. The early recognition of FD is extremely important as it could be successfuly treated by enzyme replacement therapy.
Izvleček		Izhodišča in raziskave. V Sloveniji je bilo doslej ugotovljenih pet družin s Fabryjevo boleznijo (FB). Z raziskavo smo skušali ugotoviti, kakšne so okvare srca pri bolnikih s FB. Metode. Pregledali smo družinske člane, pri katerih je bila FB dokazana z gensko analizo. Opravili smo klinični pregled, laboratorijske preiskave, 12-kanalni EKG, ultrazvočne preiskave srca, perifernih žil in trebuha, spirometrijo, obremenitveno testiranje na kolesu in 24-urno (holtersko) spremljanje EKG. Rezultati. 15 žensk je imelo povprečno starost 40 +/- 17 let. Pri treh smo ultrazvočno ugotovili hipertrofijo levega prekata, pri sedmih okvare zaklopk. Arterijsko hipertenzijo smo našli pri eni, pomembne motnje srčnega ritma pa pri dveh preiskovankah. Rezultati obremenitvenega testiranja niso bili dovolj povedni zaradi predčasnih prekinitev. Sedem moških je imelo povprečno starost 39 +/- 8 let. Pri petih smo ugotovili hipertrofijo levega prekata, pri šestih pa okvaro zaklopk. Arterijsko hipertenzijo je imel en preiskovanec, vsi so bili brez pomembnih motenj srčnega ritma. Pri obremenitvenem testiranju smo pri enem bolniku dobili ishemični odgovor, pri treh je bilo predčasno prekinjeno zaradi bolečin v nogah, pri dveh pa je bil rezultat normalen. Zaključki. FB je dedna motnja presnove sfingolipidov, ki prizadene vse telesne organe. Značilna sprememba na srcu je hipertrofija levega prekata zaradi kopičenja nerazgrajenih presnovkov v srčni mišici. Prizadete so tudi zaklopke in prevodni sistem. Pri najdbi hipertrofije levega prekata nejasne etiologije moramo med drugim pomisliti na FB. Pomembno je namreč zgodnje odkrivanje te bolezni, ker jo je možno zdraviti z nadomeščanjem manjkajočega encima.
Deskriptorji		FABRY'S DISEASE ELECTROCARDIOGRAPHY ECHOCARDIOGRAPHY EXERCISE TEST HYPERTROPHY, RIGHT VENTRICULAR HEART VALVE DISEASES HYPERTENSION