(III-3A.3) 32-year-old-patient with cardiac sarcoidosis Justyna Błaut-Jurkowska MD, Klaudia Knap MD, Prof. Maria Olszowska MD, PhD, Prof. Piotr Podolec MD, PhD
EXPERTISE 1 EXPERTISE 2 EXPERTISE 3 “Development of the European Network in Orphan Cardiovascular Diseases” “Rozszerzenie Europejskiej Sieci Współpracy ds. Sierocych Chorób Kardiologicznych”
(III-3A.2) A patient with multiple myeloma and suspected cardiac amyloidosis Piotr Liszniański MD, Jacek Nowak MD, PhD
EXPERTISE 1 EXPERTISE 2 “Development of the European Network in Orphan Cardiovascular Diseases” “Rozszerzenie Europejskiej Sieci Współpracy ds. Sierocych Chorób Kardiologicznych”
(III-3E) 33- year old male with restrictive cardiomyopathy and peripheral muscle weakness Jakub Stępniewski MD, Hanna Dziedzic-Oleksy MD, Grzegorz Kopeć MD. PhD, Piotr Wilkołek MD. PhD, Prof. Piotr Podolec MD. PhD.
Background Restrictive cardiomyopathy (RCM) is a rare disease of the heart muscle [1]. Its principal abnormality is diastolic dysfunction—specifically, restricted ventricular filling with reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness. RCM may be idiopathic, familial, or result from various systemic disorders, in particular, amyloidosis, sarcoidosis, carcinoid heart disease, scleroderma and anthracycline toxicity [2]. The course of RCM varies, depending on the pathology and treatment, but is often unsatisfactory. Several forms …
(III-3B.2) Dynamic progression of aortic stenosis in the patient with Fabry disease despite enzyme replacement therapy during 4.5-year follow-up Petkow-Dimitrow P. MD, PhD, Dziedzic H. MD, Miszalski-Jamka T. MD, PhD
Keywords: aortic stenosis, Fabry disease Background Fabry disease is a rare X-linked lysosomal storage disorder leading to an accumulation of glycosphingolipids in all tissues and organs including the heart. Currently available data suggest that valve abnormalities are observed frequently in Fabry patients. Recently, a systematic evaluation of the severity of valve abnormalities was performed in a impressive series of Fabry patients in a reference German center. Accordingly, 111 patients with genetically proven Fabry disease were systematically monitored by echocardiography for …