GPI-anchoring disorders and the heart : Is cardiomyopathy an overlooked feature?
© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd..
Glycosylphosphatidylinositol anchoring disorders (GPI-ADs) are a subgroup of congenital disorders of glycosylation. GPI biosynthesis requires proteins encoded by over 30 genes of which 24 genes are linked to neurodevelopmental disorders. Patients, especially those with PIGA-encephalopathy, have a high risk of premature mortality which sometimes is attributed to cardiomyopathy. We aimed to explore the occurrence of cardiomyopathy among patients with GPI-ADs and to raise awareness about this potentially lethal feature. Unpublished patients with genetically proven GPI-ADs and cardiomyopathy were identified through an international collaboration and recruited through the respective clinicians. We also reviewed the literature for published patients with cardiomyopathy and GPI-AD and contacted the corresponding authors for additional information. We identified four novel and unrelated patients with GPI-AD and cardiomyopathy. Cardiomyopathy was diagnosed before adulthood and was the cause of early demise in two patients. Only one patients underwent cardiac workup after being diagnosed with a GPI-AD. All were diagnosed with PIGA-encephalopathy and three had a disease-causing variant at the same residue. The literature reports five additional children with GPI-AD related cardiomyopathy, three of which died before adulthood. We have shown that patients with GPI-ADs are at risk of developing cardiomyopathy and that regular cardiac workup with echocardiography is necessary.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:104 |
|---|---|
| Enthalten in: |
Clinical genetics - 104(2023), 5 vom: 23. Nov., Seite 598-603 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Bayat, Allan [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Cardiomyopathy |
|---|
| Anmerkungen: |
Date Completed 03.10.2023 Date Revised 05.10.2023 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1111/cge.14405 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM359894992 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM359894992 | ||
| 003 | DE-627 | ||
| 005 | 20231226081841.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/cge.14405 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1199.xml |
| 035 | |a (DE-627)NLM359894992 | ||
| 035 | |a (NLM)37489290 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Bayat, Allan |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a GPI-anchoring disorders and the heart |b Is cardiomyopathy an overlooked feature? |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 03.10.2023 | ||
| 500 | |a Date Revised 05.10.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. | ||
| 520 | |a Glycosylphosphatidylinositol anchoring disorders (GPI-ADs) are a subgroup of congenital disorders of glycosylation. GPI biosynthesis requires proteins encoded by over 30 genes of which 24 genes are linked to neurodevelopmental disorders. Patients, especially those with PIGA-encephalopathy, have a high risk of premature mortality which sometimes is attributed to cardiomyopathy. We aimed to explore the occurrence of cardiomyopathy among patients with GPI-ADs and to raise awareness about this potentially lethal feature. Unpublished patients with genetically proven GPI-ADs and cardiomyopathy were identified through an international collaboration and recruited through the respective clinicians. We also reviewed the literature for published patients with cardiomyopathy and GPI-AD and contacted the corresponding authors for additional information. We identified four novel and unrelated patients with GPI-AD and cardiomyopathy. Cardiomyopathy was diagnosed before adulthood and was the cause of early demise in two patients. Only one patients underwent cardiac workup after being diagnosed with a GPI-AD. All were diagnosed with PIGA-encephalopathy and three had a disease-causing variant at the same residue. The literature reports five additional children with GPI-AD related cardiomyopathy, three of which died before adulthood. We have shown that patients with GPI-ADs are at risk of developing cardiomyopathy and that regular cardiac workup with echocardiography is necessary | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a GPI | |
| 650 | 4 | |a GPIAD | |
| 650 | 4 | |a PIGA | |
| 650 | 4 | |a cardiomyopathy | |
| 650 | 4 | |a genetics | |
| 650 | 4 | |a glycosylphosphatidylinositol biosynthesis defects | |
| 650 | 4 | |a heart | |
| 650 | 4 | |a mortality | |
| 650 | 7 | |a Glycosylphosphatidylinositols |2 NLM | |
| 700 | 1 | |a Lindau, Tobias |e verfasserin |4 aut | |
| 700 | 1 | |a Aledo-Serrano, Angel |e verfasserin |4 aut | |
| 700 | 1 | |a Gil-Nagel, Antonio |e verfasserin |4 aut | |
| 700 | 1 | |a Barić, Ivo |e verfasserin |4 aut | |
| 700 | 1 | |a Bartoniček, Dorotea |e verfasserin |4 aut | |
| 700 | 1 | |a Mateševac, Josipa |e verfasserin |4 aut | |
| 700 | 1 | |a Ramadža, Danijela Petković |e verfasserin |4 aut | |
| 700 | 1 | |a Žigman, Tamara |e verfasserin |4 aut | |
| 700 | 1 | |a Pušeljić, Silvija |e verfasserin |4 aut | |
| 700 | 1 | |a Dorner, Sanja |e verfasserin |4 aut | |
| 700 | 1 | |a Bupp, Caleb |e verfasserin |4 aut | |
| 700 | 1 | |a Devries, Seth |e verfasserin |4 aut | |
| 700 | 1 | |a Møller, Rikke Steensbjerre |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinical genetics |d 1971 |g 104(2023), 5 vom: 23. Nov., Seite 598-603 |w (DE-627)NLM00004914X |x 1399-0004 |7 nnns |
| 773 | 1 | 8 | |g volume:104 |g year:2023 |g number:5 |g day:23 |g month:11 |g pages:598-603 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1111/cge.14405 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 104 |j 2023 |e 5 |b 23 |c 11 |h 598-603 | ||