FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2950984464> ?p ?o ?g. }

• W2950984464 endingPage "102111" @default.
• W2950984464 startingPage "102111" @default.
• W2950984464 abstract "Introduction Sudden cardiac death (SCD) in the young is rare and should always lead to suspicion of a genetic cardiac disorder. We describe a family, in which the proband was a girl deceased by sudden cardiac death in the playground at thirteen years of age. The index-patient had short stature, cleft palate but no previous cardiac symptoms. We found an uncommon cause of cardiomyopathy, due to a congenital disorder of glycosylation (CDG), previously described to cause a variable range of usually mild symptoms, and not previously found to cause SCD as the first symptom of the condition. Methods The index patient underwent postmortem genetic testing/molecular autopsy for genes known to cause SCD, without a detection of causative agent, why two siblings of similar phenotype as the deceased sister underwent clinical-exome genetic sequencing (next generation sequencing). All first-degree relatives underwent clinical examination including cardiac ultrasound, Holter-ECG, exercise stress test and biochemistry panel. Results A genetic variant in the gene for phosphoglucomutase 1 (PGM1) was identified in the index patient and her two brothers, all were found to be homozygous for the genetic variant (G230E) NM_002633.2:c.689 G > A in PGM1. This variant has been linked to a congenital disorder of glycosylation (PGM1-CDG), explaining the clinical picture of short stature, cleft palate, liver engagement and cardiomyopathy. During follow-up one of the brothers died unexpectedly after physical exertion during daily life at the age of twelve years. The other brother fainted during similar circumstances at the age of thirteen years. Both parents and three other siblings were found to be heterozygous gene carriers without risk for the disease. Conclusion Our findings suggest that there is a need of multidisciplinary discussion and genetic testing after unexpected cardiac death in the young. We have to be more flexible in our evaluation of diseases and to consider even uncommon diseases including rare recessive inherited disorders. Our findings also suggest that the autosomal recessive PGM1-CDG might be highly associated with life-threatening cardiomyopathy with arrhythmia or sudden cardiac death as the first symptom presenting from childhood and adolescence." @default.
• W2950984464 created "2019-06-27" @default.
• W2950984464 creator A5004968522 @default.
• W2950984464 creator A5025320267 @default.
• W2950984464 creator A5030498569 @default.
• W2950984464 creator A5034564872 @default.
• W2950984464 creator A5037660153 @default.
• W2950984464 creator A5060226747 @default.
• W2950984464 creator A5029664968 @default.
• W2950984464 date "2019-11-01" @default.
• W2950984464 modified "2023-10-18" @default.
• W2950984464 title "The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood" @default.
• W2950984464 cites W10851429 @default.
• W2950984464 cites W1933558125 @default.
• W2950984464 cites W1973685427 @default.
• W2950984464 cites W2008145574 @default.
• W2950984464 cites W2043985983 @default.
• W2950984464 cites W2047146560 @default.
• W2950984464 cites W2057321596 @default.
• W2950984464 cites W2062355079 @default.
• W2950984464 cites W2077799529 @default.
• W2950984464 cites W2082456478 @default.
• W2950984464 cites W2090408133 @default.
• W2950984464 cites W2092249905 @default.
• W2950984464 cites W2097618980 @default.
• W2950984464 cites W2101099004 @default.
• W2950984464 cites W2101455704 @default.
• W2950984464 cites W2108243420 @default.
• W2950984464 cites W2119483101 @default.
• W2950984464 cites W2135302420 @default.
• W2950984464 cites W2145922766 @default.
• W2950984464 cites W2146665043 @default.
• W2950984464 cites W2156109088 @default.
• W2950984464 cites W2159675291 @default.
• W2950984464 cites W2167363119 @default.
• W2950984464 cites W2167967840 @default.
• W2950984464 cites W2273407533 @default.
• W2950984464 cites W2400725165 @default.
• W2950984464 cites W2546580166 @default.
• W2950984464 cites W2579037847 @default.
• W2950984464 cites W2587136991 @default.
• W2950984464 cites W2737771147 @default.
• W2950984464 cites W2739691786 @default.
• W2950984464 cites W2765249687 @default.
• W2950984464 cites W2800620664 @default.
• W2950984464 cites W2905231930 @default.
• W2950984464 cites W4211001885 @default.
• W2950984464 cites W4211017568 @default.
• W2950984464 cites W4211021766 @default.
• W2950984464 doi "https://doi.org/10.1016/j.fsigen.2019.06.012" @default.
• W2950984464 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31563034" @default.
• W2950984464 hasPublicationYear "2019" @default.
• W2950984464 type Work @default.
• W2950984464 sameAs 2950984464 @default.
• W2950984464 citedByCount "11" @default.
• W2950984464 countsByYear W29509844642020 @default.
• W2950984464 countsByYear W29509844642021 @default.
• W2950984464 countsByYear W29509844642022 @default.
• W2950984464 countsByYear W29509844642023 @default.
• W2950984464 crossrefType "journal-article" @default.
• W2950984464 hasAuthorship W2950984464A5004968522 @default.
• W2950984464 hasAuthorship W2950984464A5025320267 @default.
• W2950984464 hasAuthorship W2950984464A5029664968 @default.
• W2950984464 hasAuthorship W2950984464A5030498569 @default.
• W2950984464 hasAuthorship W2950984464A5034564872 @default.
• W2950984464 hasAuthorship W2950984464A5037660153 @default.
• W2950984464 hasAuthorship W2950984464A5060226747 @default.
• W2950984464 hasConcept C104317684 @default.
• W2950984464 hasConcept C126322002 @default.
• W2950984464 hasConcept C164705383 @default.
• W2950984464 hasConcept C187212893 @default.
• W2950984464 hasConcept C188997412 @default.
• W2950984464 hasConcept C2775935837 @default.
• W2950984464 hasConcept C2777871287 @default.
• W2950984464 hasConcept C2778198053 @default.
• W2950984464 hasConcept C2778797674 @default.
• W2950984464 hasConcept C2780185194 @default.
• W2950984464 hasConcept C2780673598 @default.
• W2950984464 hasConcept C2993353509 @default.
• W2950984464 hasConcept C501734568 @default.
• W2950984464 hasConcept C54355233 @default.
• W2950984464 hasConcept C71924100 @default.
• W2950984464 hasConcept C86803240 @default.
• W2950984464 hasConceptScore W2950984464C104317684 @default.
• W2950984464 hasConceptScore W2950984464C126322002 @default.
• W2950984464 hasConceptScore W2950984464C164705383 @default.
• W2950984464 hasConceptScore W2950984464C187212893 @default.
• W2950984464 hasConceptScore W2950984464C188997412 @default.
• W2950984464 hasConceptScore W2950984464C2775935837 @default.
• W2950984464 hasConceptScore W2950984464C2777871287 @default.
• W2950984464 hasConceptScore W2950984464C2778198053 @default.
• W2950984464 hasConceptScore W2950984464C2778797674 @default.
• W2950984464 hasConceptScore W2950984464C2780185194 @default.
• W2950984464 hasConceptScore W2950984464C2780673598 @default.
• W2950984464 hasConceptScore W2950984464C2993353509 @default.
• W2950984464 hasConceptScore W2950984464C501734568 @default.
• W2950984464 hasConceptScore W2950984464C54355233 @default.
• W2950984464 hasConceptScore W2950984464C71924100 @default.

• next