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PRKAG2 cardiac syndrome

MedGen UID:
808132
•Concept ID:
CN221579
•
Disease or Syndrome

Professional guidelines

PubMed

Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
Hoss S, Habib M, Silver J, Care M, Chan RH, Hanneman K, Morel CF, Iwanochko RM, Gollob MH, Rakowski H, Adler A
Circ Genom Precis Med 2020 Apr;13(2):e002748. Epub 2020 Mar 9 doi: 10.1161/CIRCGEN.119.002748. PMID: 32150461

Recent clinical studies

Etiology

In vivo assessment of myocardial glucose uptake by positron emission tomography in adults with the PRKAG2 cardiac syndrome.
Ha AC, Renaud JM, Dekemp RA, Thorn S, Dasilva J, Garrard L, Yoshinaga K, Abraham A, Green MS, Beanlands RS, Gollob MH
Circ Cardiovasc Imaging 2009 Nov;2(6):485-91. Epub 2009 Sep 17 doi: 10.1161/CIRCIMAGING.109.853291. PMID: 19920047

Diagnosis

Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.
Hu J, Tang B, Wang J, Huang K, Wang Y, Lu S, Gowreesunkur HB, Wang Y, Wu D, Mayala HA, Wang ZH
Curr Med Sci 2020 Jun;40(3):486-492. Epub 2020 Jul 17 doi: 10.1007/s11596-020-2207-z. PMID: 32681253
Cardiac MR manifestations in two cases of PRKAG2 mutations in a Chinese family.
Wang J, Li X, Xu Y
Int J Cardiovasc Imaging 2020 Aug;36(8):1527-1531. Epub 2020 Apr 20 doi: 10.1007/s10554-020-01848-y. PMID: 32314121
Cardiac manifestations of PRKAG2 mutation.
Banankhah P, Fishbein GA, Dota A, Ardehali R
BMC Med Genet 2018 Jan 3;19(1):1. doi: 10.1186/s12881-017-0512-6. PMID: 29298659Free PMC Article
Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.
Pöyhönen P, Hiippala A, Ollila L, Kaasalainen T, Hänninen H, Heliö T, Tallila J, Vasilescu C, Kivistö S, Ojala T, Holmström M
J Cardiovasc Magn Reson 2015 Oct 24;17:89. doi: 10.1186/s12968-015-0192-3. PMID: 26496977Free PMC Article
Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy.
Roberts JD, Veinot JP, Rutberg J, Gollob MH
Cardiovasc Pathol 2010 Sep-Oct;19(5):316-20. Epub 2009 Jul 24 doi: 10.1016/j.carpath.2009.06.003. PMID: 19632136

Prognosis

Cardiac MR manifestations in two cases of PRKAG2 mutations in a Chinese family.
Wang J, Li X, Xu Y
Int J Cardiovasc Imaging 2020 Aug;36(8):1527-1531. Epub 2020 Apr 20 doi: 10.1007/s10554-020-01848-y. PMID: 32314121
Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.
Pöyhönen P, Hiippala A, Ollila L, Kaasalainen T, Hänninen H, Heliö T, Tallila J, Vasilescu C, Kivistö S, Ojala T, Holmström M
J Cardiovasc Magn Reson 2015 Oct 24;17:89. doi: 10.1186/s12968-015-0192-3. PMID: 26496977Free PMC Article
Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Liu Y, Bai R, Wang L, Zhang C, Zhao R, Wan D, Chen X, Caceres G, Barr D, Barajas-Martinez H, Antzelevitch C, Hu D
PLoS One 2013;8(5):e64603. Epub 2013 May 31 doi: 10.1371/journal.pone.0064603. PMID: 23741347Free PMC Article

Clinical prediction guides

Cardiac MR manifestations in two cases of PRKAG2 mutations in a Chinese family.
Wang J, Li X, Xu Y
Int J Cardiovasc Imaging 2020 Aug;36(8):1527-1531. Epub 2020 Apr 20 doi: 10.1007/s10554-020-01848-y. PMID: 32314121
Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.
Pöyhönen P, Hiippala A, Ollila L, Kaasalainen T, Hänninen H, Heliö T, Tallila J, Vasilescu C, Kivistö S, Ojala T, Holmström M
J Cardiovasc Magn Reson 2015 Oct 24;17:89. doi: 10.1186/s12968-015-0192-3. PMID: 26496977Free PMC Article
Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Liu Y, Bai R, Wang L, Zhang C, Zhao R, Wan D, Chen X, Caceres G, Barr D, Barajas-Martinez H, Antzelevitch C, Hu D
PLoS One 2013;8(5):e64603. Epub 2013 May 31 doi: 10.1371/journal.pone.0064603. PMID: 23741347Free PMC Article
In vivo assessment of myocardial glucose uptake by positron emission tomography in adults with the PRKAG2 cardiac syndrome.
Ha AC, Renaud JM, Dekemp RA, Thorn S, Dasilva J, Garrard L, Yoshinaga K, Abraham A, Green MS, Beanlands RS, Gollob MH
Circ Cardiovasc Imaging 2009 Nov;2(6):485-91. Epub 2009 Sep 17 doi: 10.1161/CIRCIMAGING.109.853291. PMID: 19920047
Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.
Gollob MH
Biochem Soc Trans 2003 Feb;31(Pt 1):228-31. doi: 10.1042/bst0310228. PMID: 12546691

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