Matches in SemOpenAlex for { <https://semopenalex.org/work/W4311758277> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W4311758277 abstract "Abstract Introduction Desmoplakin is a human protein which plays a key role into desmosomes structure. Desmoplakin gene mutations can cause the so-called desmoplakin cardiomyopathy, a form of arrhythmogenic cardiomyopathy. Its clinical history is characterized by severe ventricular arrhythmias, episodic myocardial injury and left ventricular systolic dysfunction associated with fibrosis. Case Presentation A 12-years-old male came to our inherited cardiomyopathy ambulatory for cardiological evaluation due to a previous history of cardiac arrest when he was infant (30 days newborn) and palpitation. Previous medical history included eczematous dermatitis and occasional hyperglycemia. During cardiological evaluation EKG was unremarkable, echocardiography revealed myocardial noncompaction in apical and mid-ventricular regions of the left ventricle's infero-lateral wall (end systolic ratio 2:1) and evidence of direct blood flow into deep intertrabecular recesses by colour doppler. Due to history of palpitation an EP study was performed that showed a lateral left-sided accessory pathway that was ablated during the same procedure. A genetic molecular analysis with exome sequencing (NGS, next generation sequencing) was performed and revealed a heterozygous genetic variant in DSP (Desmoplakin) gene on chromosome 6 (c.4046 G>A pSer1349Asn). Familiar screening revealed the same genetic variant in his father and his brother, both had no cardiological events. Conclusion Desmoplakin cardiomyopathy may have a severe clinical presentation with cardiac arrest. A multidisciplinary approach is suggested for a tailored management of these patients." @default.
- W4311758277 created "2022-12-28" @default.
- W4311758277 creator A5006846986 @default.
- W4311758277 creator A5018892710 @default.
- W4311758277 creator A5028278102 @default.
- W4311758277 creator A5029267226 @default.
- W4311758277 creator A5033893475 @default.
- W4311758277 creator A5048790207 @default.
- W4311758277 creator A5071508296 @default.
- W4311758277 date "2022-12-14" @default.
- W4311758277 modified "2023-10-16" @default.
- W4311758277 title "416 DESMOPLAKIN CARDIOMYOPATHY PRESENTING WITH CARDIAC ARREST IN A PATIENT WITH MYOCARDIAL NON-COMPACTION AND LEFT ACCESSORY PATHWAY" @default.
- W4311758277 doi "https://doi.org/10.1093/eurheartjsupp/suac121.418" @default.
- W4311758277 hasPublicationYear "2022" @default.
- W4311758277 type Work @default.
- W4311758277 citedByCount "0" @default.
- W4311758277 crossrefType "journal-article" @default.
- W4311758277 hasAuthorship W4311758277A5006846986 @default.
- W4311758277 hasAuthorship W4311758277A5018892710 @default.
- W4311758277 hasAuthorship W4311758277A5028278102 @default.
- W4311758277 hasAuthorship W4311758277A5029267226 @default.
- W4311758277 hasAuthorship W4311758277A5033893475 @default.
- W4311758277 hasAuthorship W4311758277A5048790207 @default.
- W4311758277 hasAuthorship W4311758277A5071508296 @default.
- W4311758277 hasBestOaLocation W43117582771 @default.
- W4311758277 hasConcept C126322002 @default.
- W4311758277 hasConcept C1491633281 @default.
- W4311758277 hasConcept C164705383 @default.
- W4311758277 hasConcept C2777189754 @default.
- W4311758277 hasConcept C2778198053 @default.
- W4311758277 hasConcept C2778797674 @default.
- W4311758277 hasConcept C2909811527 @default.
- W4311758277 hasConcept C3018763269 @default.
- W4311758277 hasConcept C54355233 @default.
- W4311758277 hasConcept C71924100 @default.
- W4311758277 hasConcept C86803240 @default.
- W4311758277 hasConceptScore W4311758277C126322002 @default.
- W4311758277 hasConceptScore W4311758277C1491633281 @default.
- W4311758277 hasConceptScore W4311758277C164705383 @default.
- W4311758277 hasConceptScore W4311758277C2777189754 @default.
- W4311758277 hasConceptScore W4311758277C2778198053 @default.
- W4311758277 hasConceptScore W4311758277C2778797674 @default.
- W4311758277 hasConceptScore W4311758277C2909811527 @default.
- W4311758277 hasConceptScore W4311758277C3018763269 @default.
- W4311758277 hasConceptScore W4311758277C54355233 @default.
- W4311758277 hasConceptScore W4311758277C71924100 @default.
- W4311758277 hasConceptScore W4311758277C86803240 @default.
- W4311758277 hasIssue "Supplement_K" @default.
- W4311758277 hasLocation W43117582771 @default.
- W4311758277 hasOpenAccess W4311758277 @default.
- W4311758277 hasPrimaryLocation W43117582771 @default.
- W4311758277 hasRelatedWork W2035379336 @default.
- W4311758277 hasRelatedWork W2756477800 @default.
- W4311758277 hasRelatedWork W2910094685 @default.
- W4311758277 hasRelatedWork W2968378105 @default.
- W4311758277 hasRelatedWork W3029896315 @default.
- W4311758277 hasRelatedWork W4293191784 @default.
- W4311758277 hasRelatedWork W4304084256 @default.
- W4311758277 hasRelatedWork W4311758277 @default.
- W4311758277 hasRelatedWork W4322706398 @default.
- W4311758277 hasRelatedWork W4361215781 @default.
- W4311758277 hasVolume "24" @default.
- W4311758277 isParatext "false" @default.
- W4311758277 isRetracted "false" @default.
- W4311758277 workType "article" @default.