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The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för barns och kvinnors hälsa. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Barn- och kvinnocentrum, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus Linköping/Motala. Lund Univ, Sweden.
Vrinnevi Hosp, Sweden.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för hematopoes och utvecklingsbiologi. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Diagnostikcentrum, Klinisk genetik.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Diagnostikcentrum, Klinisk genetik.
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2019 (Engelska)Ingår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 43, artikel-id UNSP 102111Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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, Holzer-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 amp;gt; 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.

Ort, förlag, år, upplaga, sidor
ELSEVIER IRELAND LTD , 2019. Vol. 43, artikel-id UNSP 102111
Nyckelord [en]
PGM1; CDG; G230E; Familial RCM; Cardiomyopathy; SCD
Nationell ämneskategori
Medicinsk genetik
Identifikatorer
URN: urn:nbn:se:liu:diva-162338DOI: 10.1016/j.fsigen.2019.06.012ISI: 000493905200001PubMedID: 31563034OAI: oai:DiVA.org:liu-162338DiVA, id: diva2:1374066
Anmärkning

Funding Agencies|Region Ostergotland (ALF); Strategic Research Area in Forensic Science (Strategiomradet i Forensiska Vetenskaper); FORSS (Medical Research Council of Southeast Sweden)

Tillgänglig från: 2019-11-28 Skapad: 2019-11-28 Senast uppdaterad: 2019-11-28

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Fernlund, EvaEllegård, RadaKlang Årstrand, HannaGreen, HenrikOlsson, HansGunnarsson, Cecilia
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Avdelningen för barns och kvinnors hälsaMedicinska fakultetenH.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus Linköping/MotalaAvdelningen för hematopoes och utvecklingsbiologiKlinisk genetikAvdelningen för cellbiologiAvdelningen för läkemedelsforskningAvdelning för neurobiologiKlinisk patologi
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Forensic Science International: Genetics
Medicinsk genetik

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