Matches in SemOpenAlex for { <https://semopenalex.org/work/W4377019768> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W4377019768 endingPage "D182" @default.
- W4377019768 startingPage "D182" @default.
- W4377019768 abstract "Abstract A 64–year–old patient,hypertensive,ex–smoker,no family history of CAD or MCI,with electrocardiographic abnormalities during checkups for sports activity at age 40,came to our observation for reported brief episodes of heart palpitation.On ecg sinus rhythm,PR 200 msec,elevated QRS voltages,negative T waves from V3–V6 and infero–laterally,isolated BEV. Echocardiogram showed asymmetric left ventricular hypertrophy with involvement of septum and mid–apical segments,absence of obstruction,grade II diastolic dysfunction,enlarged left atrium,ectasia of aortic bulb,ascending aorta and arch with mild valvular insufficiency. Cardiac MRI showed asymmetric hypertrophy with prevalent involvement of the SIV and apex,normal systolic function.Right ventricle within limits.LAM elongated,biatrial dilatation.Areas of enhancement with intramural extension to the inferior SIV and extensive subendocardial area to the infero–lateral wall,picture suggestive of Fabry disease. Holter ecg was performed:RS at mean fc 61 bpm,numerous isolated BEVs and pairs,1 run of TVNS of 11 beats,for which dual–chamber ICD implantation was performed in primary prevention.Genetic examination showed absence of alpha galactosidase enzyme activity and mutation in exon 5 of GLA gene(p.N215S). The patient had no other systemic symptoms typical of Fabry‘s disease such as CRI,acroparesthesias,angiokeratomas,cornea verticillata,gastrointestinal disturbances nor central neurological involvement.In addition,he was starting enzyme replacement therapy with alpha galactosidase on a home regimen.Hypertrophic cardiomyopathy is a frequent finding in clinical practice.In MF, the age of cardiac involvement is usually later than in other forms of cardiomyopathy. Cardiac MRI is the most appropriate technique to place a correct differential diagnosis;numerous studies have demonstrated preferential localization of areas of delayed enhancement at the infero–lateral and posterolateral basal wall,present even in the absence of frank ventricular hypertrophy. Systemic involvement, may help in the differential diagnosis because of the presence of characteristic symptoms.In the reported clinical case,however,the diagnosis is even more insidious since in late forms or cardiac variants of MF,as with the p.N215S gene variant,cardiomyopathy may be the only significant clinical manifestation." @default.
- W4377019768 created "2023-05-19" @default.
- W4377019768 creator A5007083415 @default.
- W4377019768 creator A5009761348 @default.
- W4377019768 creator A5024051386 @default.
- W4377019768 creator A5039308866 @default.
- W4377019768 creator A5041820409 @default.
- W4377019768 creator A5043338665 @default.
- W4377019768 creator A5046740149 @default.
- W4377019768 creator A5059122511 @default.
- W4377019768 creator A5068304482 @default.
- W4377019768 creator A5069662509 @default.
- W4377019768 creator A5083116716 @default.
- W4377019768 date "2023-05-01" @default.
- W4377019768 modified "2023-10-14" @default.
- W4377019768 title "P353 A CASE OF FABRY DISEASE WITH ISOLATED CARDIAC INVOLVEMENT" @default.
- W4377019768 doi "https://doi.org/10.1093/eurheartjsupp/suad111.426" @default.
- W4377019768 hasPublicationYear "2023" @default.
- W4377019768 type Work @default.
- W4377019768 citedByCount "0" @default.
- W4377019768 crossrefType "journal-article" @default.
- W4377019768 hasAuthorship W4377019768A5007083415 @default.
- W4377019768 hasAuthorship W4377019768A5009761348 @default.
- W4377019768 hasAuthorship W4377019768A5024051386 @default.
- W4377019768 hasAuthorship W4377019768A5039308866 @default.
- W4377019768 hasAuthorship W4377019768A5041820409 @default.
- W4377019768 hasAuthorship W4377019768A5043338665 @default.
- W4377019768 hasAuthorship W4377019768A5046740149 @default.
- W4377019768 hasAuthorship W4377019768A5059122511 @default.
- W4377019768 hasAuthorship W4377019768A5068304482 @default.
- W4377019768 hasAuthorship W4377019768A5069662509 @default.
- W4377019768 hasAuthorship W4377019768A5083116716 @default.
- W4377019768 hasBestOaLocation W43770197681 @default.
- W4377019768 hasConcept C126322002 @default.
- W4377019768 hasConcept C164705383 @default.
- W4377019768 hasConcept C192244848 @default.
- W4377019768 hasConcept C2776002628 @default.
- W4377019768 hasConcept C2777404818 @default.
- W4377019768 hasConcept C2778198053 @default.
- W4377019768 hasConcept C2778797674 @default.
- W4377019768 hasConcept C2778921608 @default.
- W4377019768 hasConcept C2779134260 @default.
- W4377019768 hasConcept C2780040984 @default.
- W4377019768 hasConcept C2780185194 @default.
- W4377019768 hasConcept C71924100 @default.
- W4377019768 hasConcept C7843141 @default.
- W4377019768 hasConcept C84393581 @default.
- W4377019768 hasConceptScore W4377019768C126322002 @default.
- W4377019768 hasConceptScore W4377019768C164705383 @default.
- W4377019768 hasConceptScore W4377019768C192244848 @default.
- W4377019768 hasConceptScore W4377019768C2776002628 @default.
- W4377019768 hasConceptScore W4377019768C2777404818 @default.
- W4377019768 hasConceptScore W4377019768C2778198053 @default.
- W4377019768 hasConceptScore W4377019768C2778797674 @default.
- W4377019768 hasConceptScore W4377019768C2778921608 @default.
- W4377019768 hasConceptScore W4377019768C2779134260 @default.
- W4377019768 hasConceptScore W4377019768C2780040984 @default.
- W4377019768 hasConceptScore W4377019768C2780185194 @default.
- W4377019768 hasConceptScore W4377019768C71924100 @default.
- W4377019768 hasConceptScore W4377019768C7843141 @default.
- W4377019768 hasConceptScore W4377019768C84393581 @default.
- W4377019768 hasIssue "Supplement_D" @default.
- W4377019768 hasLocation W43770197681 @default.
- W4377019768 hasOpenAccess W4377019768 @default.
- W4377019768 hasPrimaryLocation W43770197681 @default.
- W4377019768 hasRelatedWork W2025107008 @default.
- W4377019768 hasRelatedWork W2051945244 @default.
- W4377019768 hasRelatedWork W2053672704 @default.
- W4377019768 hasRelatedWork W2138570799 @default.
- W4377019768 hasRelatedWork W2143322674 @default.
- W4377019768 hasRelatedWork W2384263601 @default.
- W4377019768 hasRelatedWork W2920705617 @default.
- W4377019768 hasRelatedWork W3047274488 @default.
- W4377019768 hasRelatedWork W3195412921 @default.
- W4377019768 hasRelatedWork W4226001377 @default.
- W4377019768 hasVolume "25" @default.
- W4377019768 isParatext "false" @default.
- W4377019768 isRetracted "false" @default.
- W4377019768 workType "article" @default.