Matches in SemOpenAlex for { <https://semopenalex.org/work/W2888042689> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2888042689 abstract "We discuss a 56‑year‑old man with Fabry disease (FD), a genetic X‑linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia‑associated chest pain, which had occurred occasionally in the past, but on that occasion was long‑lasting (>12h) and distressing. The patient had been diagnosed with FD at the age of 42. He presented a range of symptoms characteristic for the condition, including hypertrophic cardiac myopathy with impaired left ventricular relaxation, angiokeratomas, cornea verticillata, hypohydrosis and acroparesthesia. Residual alpha‑galactosidase A activity at diagnosis was ≈3%. The Enzyme Replacement Therapy (ERT) with the agalsidase alpha was induced. A year later pacemaker implantation was performed due to sick sinus syndrome with symptomatic, severe episodes of bradycardia. The initial diagnosis was tachycardia‑associated chest pain with troponin release in the context of FD left ventricular hypertrophy. However, a decision was made to perform an urgent angiographic evaluation to exclude coronary pathology as a potential factor in the clinical picture. Coronary angiography showed a critical, flow-limiting, stenosis of the left anterior descending artery (LAD) which changed the initial type 2 myocardial infarction (MI) diagnosis to the type 1 MI. Percutaneous stent‑assisted treatment was performed with an optimal angiographic and clinical outcome. However, 5 days later the patient developed a minor left hemispheric ischaemic stroke. In conclusion, the clinical course of a rare pathology such as FD may be importantly complicated by other (more common) pathologies. Physicians, in their diagnostic and therapeutic decision‑making, need to be open to thinking beyond the patient label. JRCD 2018; 3 (7): 246–252" @default.
- W2888042689 created "2018-08-31" @default.
- W2888042689 creator A5012061533 @default.
- W2888042689 creator A5012345285 @default.
- W2888042689 creator A5032583807 @default.
- W2888042689 creator A5033692726 @default.
- W2888042689 creator A5038476377 @default.
- W2888042689 creator A5061200973 @default.
- W2888042689 creator A5061763450 @default.
- W2888042689 creator A5061974222 @default.
- W2888042689 creator A5065170003 @default.
- W2888042689 creator A5070421787 @default.
- W2888042689 creator A5090832458 @default.
- W2888042689 date "2018-01-01" @default.
- W2888042689 modified "2023-10-14" @default.
- W2888042689 title "Myocardial infarction in Fabry disease – misfortune or companion? Case report and review of the literature (RCD code: III-3B.2)" @default.
- W2888042689 doi "https://doi.org/10.20418/jrcd.vol3no7.335" @default.
- W2888042689 hasPublicationYear "2018" @default.
- W2888042689 type Work @default.
- W2888042689 sameAs 2888042689 @default.
- W2888042689 citedByCount "0" @default.
- W2888042689 crossrefType "journal-article" @default.
- W2888042689 hasAuthorship W2888042689A5012061533 @default.
- W2888042689 hasAuthorship W2888042689A5012345285 @default.
- W2888042689 hasAuthorship W2888042689A5032583807 @default.
- W2888042689 hasAuthorship W2888042689A5033692726 @default.
- W2888042689 hasAuthorship W2888042689A5038476377 @default.
- W2888042689 hasAuthorship W2888042689A5061200973 @default.
- W2888042689 hasAuthorship W2888042689A5061763450 @default.
- W2888042689 hasAuthorship W2888042689A5061974222 @default.
- W2888042689 hasAuthorship W2888042689A5065170003 @default.
- W2888042689 hasAuthorship W2888042689A5070421787 @default.
- W2888042689 hasAuthorship W2888042689A5090832458 @default.
- W2888042689 hasBestOaLocation W28880426891 @default.
- W2888042689 hasConcept C126322002 @default.
- W2888042689 hasConcept C127413603 @default.
- W2888042689 hasConcept C151730666 @default.
- W2888042689 hasConcept C164705383 @default.
- W2888042689 hasConcept C2776002628 @default.
- W2888042689 hasConcept C2776331378 @default.
- W2888042689 hasConcept C2777404818 @default.
- W2888042689 hasConcept C2778704086 @default.
- W2888042689 hasConcept C2779134260 @default.
- W2888042689 hasConcept C2779343474 @default.
- W2888042689 hasConcept C2780645631 @default.
- W2888042689 hasConcept C500558357 @default.
- W2888042689 hasConcept C71924100 @default.
- W2888042689 hasConcept C78519656 @default.
- W2888042689 hasConcept C84393581 @default.
- W2888042689 hasConcept C86803240 @default.
- W2888042689 hasConceptScore W2888042689C126322002 @default.
- W2888042689 hasConceptScore W2888042689C127413603 @default.
- W2888042689 hasConceptScore W2888042689C151730666 @default.
- W2888042689 hasConceptScore W2888042689C164705383 @default.
- W2888042689 hasConceptScore W2888042689C2776002628 @default.
- W2888042689 hasConceptScore W2888042689C2776331378 @default.
- W2888042689 hasConceptScore W2888042689C2777404818 @default.
- W2888042689 hasConceptScore W2888042689C2778704086 @default.
- W2888042689 hasConceptScore W2888042689C2779134260 @default.
- W2888042689 hasConceptScore W2888042689C2779343474 @default.
- W2888042689 hasConceptScore W2888042689C2780645631 @default.
- W2888042689 hasConceptScore W2888042689C500558357 @default.
- W2888042689 hasConceptScore W2888042689C71924100 @default.
- W2888042689 hasConceptScore W2888042689C78519656 @default.
- W2888042689 hasConceptScore W2888042689C84393581 @default.
- W2888042689 hasConceptScore W2888042689C86803240 @default.
- W2888042689 hasIssue "7" @default.
- W2888042689 hasLocation W28880426891 @default.
- W2888042689 hasLocation W28880426892 @default.
- W2888042689 hasOpenAccess W2888042689 @default.
- W2888042689 hasPrimaryLocation W28880426891 @default.
- W2888042689 hasRelatedWork W1981109086 @default.
- W2888042689 hasRelatedWork W1987975497 @default.
- W2888042689 hasRelatedWork W2032280688 @default.
- W2888042689 hasRelatedWork W2049397185 @default.
- W2888042689 hasRelatedWork W2063899733 @default.
- W2888042689 hasRelatedWork W2073314864 @default.
- W2888042689 hasRelatedWork W2399063111 @default.
- W2888042689 hasRelatedWork W2416316366 @default.
- W2888042689 hasRelatedWork W2417185335 @default.
- W2888042689 hasRelatedWork W3106711287 @default.
- W2888042689 hasVolume "3" @default.
- W2888042689 isParatext "false" @default.
- W2888042689 isRetracted "false" @default.
- W2888042689 magId "2888042689" @default.
- W2888042689 workType "article" @default.