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Reduced systolic function

MedGen UID:
870560
Concept ID:
C4025008
Finding; Pathologic Function
HPO: HP:0006673

Conditions with this feature

Catecholaminergic polymorphic ventricular tachycardia 1
MedGen UID:
351513
Concept ID:
C1631597
Disease or Syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.
Dilated cardiomyopathy 1E
MedGen UID:
331341
Concept ID:
C1832680
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
Dilated cardiomyopathy 1P
MedGen UID:
322782
Concept ID:
C1835928
Disease or Syndrome
An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban.
Dilated cardiomyopathy 1L
MedGen UID:
335735
Concept ID:
C1847667
Disease or Syndrome
Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).
Dilated cardiomyopathy 1I
MedGen UID:
387998
Concept ID:
C1858154
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.
Autosomal recessive limb-girdle muscular dystrophy type 2W
MedGen UID:
897675
Concept ID:
C4225192
Disease or Syndrome
Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by Warman Chardon et al., 2015).
Triokinase and FMN cyclase deficiency syndrome
MedGen UID:
1710207
Concept ID:
C5394125
Disease or Syndrome
Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020).
Cardiomyopathy, dilated, 2E
MedGen UID:
1794180
Concept ID:
C5561970
Disease or Syndrome
CMD2E is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation (Vasilescu et al., 2018; Jones et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.

Professional guidelines

PubMed

Magodoro IM, Guerrero-Chalela CE, Claggett B, Jermy S, Samuels P, Myer L, Zar HJ, Jao J, Ntsekhe M, Siedner MJ, Ntusi NAB
Sci Rep 2024 Jun 20;14(1):14234. doi: 10.1038/s41598-024-65119-9. PMID: 38902326Free PMC Article
Kay GN, Ellenbogen KA, Giudici M, Redfield MM, Jenkins LS, Mianulli M, Wilkoff B
J Interv Card Electrophysiol 1998 Jun;2(2):121-35. doi: 10.1023/a:1009795330454. PMID: 9870004
Fleg JL, Kitzman DW, Aronow WS, Rich MW, Gardin JM, Slone SA
Am J Cardiol 1998 Feb 15;81(4):506-9. doi: 10.1016/s0002-9149(97)00941-7. PMID: 9485147

Recent clinical studies

Etiology

Bala R, Mehta S, Roy VC, Kaur G, de Marvao A
Rev Port Cardiol 2023 Nov;42(11):917-924. Epub 2023 Jul 4 doi: 10.1016/j.repc.2023.01.029. PMID: 37414337
Bangi EF, Maikawa N, Kaur A, Jain R, Jain R
Future Cardiol 2022 Aug;18(8):661-667. Epub 2022 May 13 doi: 10.2217/fca-2021-0153. PMID: 35549709
Cowan JR, Salyer L, Wright NT, Kinnamon DD, Amaya P, Jordan E, Bamshad MJ, Nickerson DA, Hershberger RE
Circ Genom Precis Med 2020 Aug;13(4):e002892. Epub 2020 Jun 30 doi: 10.1161/CIRCGEN.119.002892. PMID: 32603605Free PMC Article
Hänselmann A, Veltmann C, Bauersachs J, Berliner D
Herz 2020 May;45(3):212-220. doi: 10.1007/s00059-020-04903-5. PMID: 32107565Free PMC Article
Bhatia RS, Ouzounian M, Tu JV, Liu PP, Lee DS
Cardiovasc Hematol Agents Med Chem 2009 Jul;7(3):193-7. doi: 10.2174/187152509789105462. PMID: 19689257

Diagnosis

Bala R, Mehta S, Roy VC, Kaur G, de Marvao A
Rev Port Cardiol 2023 Nov;42(11):917-924. Epub 2023 Jul 4 doi: 10.1016/j.repc.2023.01.029. PMID: 37414337
Licata T, Clements A
WMJ 2022 Oct;121(3):E50-E52. PMID: 36301659
Paolillo S, Marsico F, Prastaro M, Renga F, Esposito L, De Martino F, Di Napoli P, Esposito I, Ambrosio A, Ianniruberto M, Mennella R, Paolillo R, Gargiulo P
Heart Fail Clin 2019 Jul;15(3):341-347. Epub 2019 Apr 5 doi: 10.1016/j.hfc.2019.02.003. PMID: 31079692
Hildebrandt P
Dis Markers 2009;26(5-6):227-33. doi: 10.3233/DMA-2009-0632. PMID: 19773612Free PMC Article
Martins E, Cardoso JS, Abreu-Lima C
Rev Port Cardiol 2002 Dec;21(12):1487-503. PMID: 12621922

Therapy

Licata T, Clements A
WMJ 2022 Oct;121(3):E50-E52. PMID: 36301659
Bangi EF, Maikawa N, Kaur A, Jain R, Jain R
Future Cardiol 2022 Aug;18(8):661-667. Epub 2022 May 13 doi: 10.2217/fca-2021-0153. PMID: 35549709
Richards AM
Expert Opin Pharmacother 2011 Dec;12(18):2801-15. Epub 2011 Nov 14 doi: 10.1517/14656566.2011.631524. PMID: 22082128
Bhatia RS, Ouzounian M, Tu JV, Liu PP, Lee DS
Cardiovasc Hematol Agents Med Chem 2009 Jul;7(3):193-7. doi: 10.2174/187152509789105462. PMID: 19689257
Klein L, O'Connor CM, Gattis WA, Zampino M, de Luca L, Vitarelli A, Fedele F, Gheorghiade M
Am J Cardiol 2003 May 8;91(9A):18F-40F. doi: 10.1016/s0002-9149(02)03336-2. PMID: 12729848

Prognosis

Bala R, Mehta S, Roy VC, Kaur G, de Marvao A
Rev Port Cardiol 2023 Nov;42(11):917-924. Epub 2023 Jul 4 doi: 10.1016/j.repc.2023.01.029. PMID: 37414337
Chaosuwannakit N, Makarawate P
Tomography 2021 May 12;7(2):180-188. doi: 10.3390/tomography7020016. PMID: 34065998Free PMC Article
Hänselmann A, Veltmann C, Bauersachs J, Berliner D
Herz 2020 May;45(3):212-220. doi: 10.1007/s00059-020-04903-5. PMID: 32107565Free PMC Article
Paolillo S, Marsico F, Prastaro M, Renga F, Esposito L, De Martino F, Di Napoli P, Esposito I, Ambrosio A, Ianniruberto M, Mennella R, Paolillo R, Gargiulo P
Heart Fail Clin 2019 Jul;15(3):341-347. Epub 2019 Apr 5 doi: 10.1016/j.hfc.2019.02.003. PMID: 31079692
Hildebrandt P
Dis Markers 2009;26(5-6):227-33. doi: 10.3233/DMA-2009-0632. PMID: 19773612Free PMC Article

Clinical prediction guides

Sharpe AN, Oldach MS, Rivas VN, Kaplan JL, Walker AL, Kovacs SL, Hwee DT, Cremin P, Morgan BP, Malik FI, Harris SP, Stern JA
Sci Rep 2023 Jan 2;13(1):32. doi: 10.1038/s41598-022-26630-z. PMID: 36593243Free PMC Article
Chaosuwannakit N, Makarawate P
Tomography 2021 May 12;7(2):180-188. doi: 10.3390/tomography7020016. PMID: 34065998Free PMC Article
Beroukhim RS, Geva T, Del Nido P, Sleeper LA, Lu M, Muter A, Harrild DM, Walsh EP, Nathan M
Circ Cardiovasc Imaging 2021 Feb;14(2):e011748. Epub 2021 Feb 1 doi: 10.1161/CIRCIMAGING.120.011748. PMID: 33517672
Frisk M, Le C, Shen X, Røe ÅT, Hou Y, Manfra O, Silva GJJ, van Hout I, Norden ES, Aronsen JM, Laasmaa M, Espe EKS, Zouein FA, Lambert RR, Dahl CP, Sjaastad I, Lunde IG, Coffey S, Cataliotti A, Gullestad L, Tønnessen T, Jones PP, Altara R, Louch WE
J Am Coll Cardiol 2021 Feb 2;77(4):405-419. doi: 10.1016/j.jacc.2020.11.044. PMID: 33509397Free PMC Article
Aleong RG, Mulvahill MJ, Halder I, Carlson NE, Singh M, Bloom HL, Dudley SC, Ellinor PT, Shalaby A, Weiss R, Gutmann R, Sauer WH, Narayanan K, Chugh SS, Saba S, London B
J Am Heart Assoc 2015 Jul 31;4(8):e001566. doi: 10.1161/JAHA.114.001566. PMID: 26231842Free PMC Article

Recent systematic reviews

den Harink T, Roelofs MJM, Limpens J, Painter RC, Roseboom TJ, van Deutekom AW
PLoS One 2022;17(11):e0275236. Epub 2022 Nov 8 doi: 10.1371/journal.pone.0275236. PMID: 36346818Free PMC Article
Hirono K, Takarada S, Miyao N, Nakaoka H, Ibuki K, Ozawa S, Origasa H, Ichida F
Open Heart 2022 May;9(1) doi: 10.1136/openhrt-2021-001908. PMID: 35613828Free PMC Article
Ramos-Rodriguez A, Fernandez-Bravo C, Estepa-Pedregosa L, Rodriguez-Gonzalez M
Curr Med Imaging 2022;18(9):1003-1011. doi: 10.2174/1573405618666220216121424. PMID: 35170419
Chatterjee NA, Upadhyay GA, Ellenbogen KA, McAlister FA, Choudhry NK, Singh JP
Circ Arrhythm Electrophysiol 2012 Feb;5(1):68-76. Epub 2011 Dec 20 doi: 10.1161/CIRCEP.111.967810. PMID: 22187425

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