| Autor: |
Dostalova, G, Hlubocka, Z, Ravlykova, K, Rohn, V, Zeman, J, Palecek, T, Linhart, A, Bochard Villanueva, B, Fabregat-Andres, O, De La Espriella-Juan, R, Cubillos-Arango, A, Ferrando-Beltran, M, Chacon-Hernandez, N, Estornell-Erill, J, Perez-Bosca, JL, Morell-Cabedo, S, Paya-Serrano, R, Mediratta, A, Retzer, E, Decara, J, Weinert, L, Shah, AP, Lang, R M, Gerede, DM, Acibuca, A, Uzun, C, Goksuluk, H, Kaya, CT, Ongun, A, Kilickap, M, Dincer, I, Erol, C, Altun, IA, Guz, GG, Akin, FA, Kose, NK, Ilknur Altun, IA, Felice, T, Mercieca Balbi, M, Yamagata, K, Felice, H |
| Zdroj: |
European Journal of Echocardiography; December 2014, Vol. 15 Issue: Supplement 2 pii1-ii1, 1p |
| Abstrakt: |
Mucopolysaccharidosis type IV B (MPS IV B), also known as Morquio syndrome, is a rare inherited disease from a group of lysosomal storage disorders. Estimates of birth prevalence range from less than 1/40,000 to 1/200,000 births. MPS IV B occurs because of a deficiency of the enzyme beta-galactosidase. A deficiency of this enzyme leads to the accumulation of mucopolysaccharides in the whole body with e.g. growth retardation, a prominent lower face, an abnormally short neck, kyphoscoliosis, abnormal and/or a prominent breast bone (pectus carinatum). Also cardiomegaly may also occur. The accumulation in cardiomyocytes causes progressive damage to cells, tissues, and failure of their function. Cardiac manifestation could cause a premature death of the patient. Our clinical case report shows a 60-year old women with symptomatic aortic valve stenosis and severe hypertrophy of the left ventricle. From the childhood there raised suspicion of lysosomal storage disorder because of her clinical features. She had signs of enzymatic storage disorders (as growth retardation with height 140 cm in adulthood, abnormally short neck, kyphoscoliosis, abnormalities of foot and legs, pectus carinatum). The diagnosis of MPS IV, type B in our patient was confirmed by enzyme and genetic screening. The patient suffered from mild dyspnea (NYHA class II), patient's sister, also with MPS IV, died from sudden cardiac death at her 60. By echocardiographic examination there was significant aortic valve stenosis, with progression during 2 years follow up (AVA 0,67cm2, AVAi 0,45 cm2/m2,PG mean 75 mmHg) and asymetric septal hypertrophy with mild left ventricle outflow tract obstruction at rest. There was no coronary artery disease. MRI of cervical spine showed severe C2/C3 spinal stenosis with special need of perioperative anaesthesiologic care. Aortic valve replacement and septal myectomy were performed without any complications, also postoperative period is so far without any complications. The patient is free of symptoms. Histological examination of the aortic valve tissue and myocytes confirmed also lysosomal storage. Conclusions: Mucopolysaccharidosis type IV B with this combination of cardiac manifestation (severe valve disease and septal hypertrophy with LVOT obstruction) has not been published yet. Cardiologic and echocardiographic assessment should be completed at the time of diagnosis and according to the clinical course at least every 1–2 years thereafter by patients with MPS IV. Cardiac surgery with very careful perioperative monitoring seems to be safe and effective. |
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