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Impaired myocardial contractility

MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome
HPO: HP:0006670

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired myocardial contractility

Conditions with this feature

Dilated cardiomyopathy 1O
MedGen UID:
325268
Concept ID:
C1837839
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.
Dilated cardiomyopathy 1M
MedGen UID:
334498
Concept ID:
C1843808
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.
Dilated cardiomyopathy 1B
MedGen UID:
1814491
Concept ID:
C5700078
Disease or Syndrome
A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.

Professional guidelines

PubMed

Hordyjewska A, Popiołek Ł, Kocot J
Biometals 2014 Aug;27(4):611-21. Epub 2014 Apr 20 doi: 10.1007/s10534-014-9736-5. PMID: 24748564Free PMC Article

Recent clinical studies

Etiology

Thirunavukarasu S, Ansari F, Cubbon R, Forbes K, Bucciarelli-Ducci C, Newby DE, Dweck MR, Rider OJ, Valkovič L, Rodgers CT, Tyler DJ, Chowdhary A, Jex N, Kotha S, Morley L, Xue H, Swoboda P, Kellman P, Greenwood JP, Plein S, Everett T, Scott E, Levelt E
Diabetes Care 2022 Dec 1;45(12):3007-3015. doi: 10.2337/dc22-0401. PMID: 36099225Free PMC Article
Ito Y, Yoshida M, Masuda H, Maeda D, Kudo-Asabe Y, Umakoshi M, Nanjo H, Goto A
Sci Rep 2021 Jun 4;11(1):11852. doi: 10.1038/s41598-021-90502-1. PMID: 34088908Free PMC Article
Matsa LS, Sagurthi SR, Ananthapur V, Nalla S, Nallari P
Gene 2014 Sep 15;548(2):256-62. Epub 2014 Jul 15 doi: 10.1016/j.gene.2014.07.043. PMID: 25042451
Bełtowski J, Wójcicka G, Jamroz-Wiśniewska A
Curr Drug Saf 2009 Sep;4(3):209-28. Epub 2009 Sep 1 doi: 10.2174/157488609789006949. PMID: 19534648
Massie BM
Am J Med 1988 Apr 15;84(4A):36-46. doi: 10.1016/0002-9343(88)90468-8. PMID: 3064607

Diagnosis

Thirunavukarasu S, Ansari F, Cubbon R, Forbes K, Bucciarelli-Ducci C, Newby DE, Dweck MR, Rider OJ, Valkovič L, Rodgers CT, Tyler DJ, Chowdhary A, Jex N, Kotha S, Morley L, Xue H, Swoboda P, Kellman P, Greenwood JP, Plein S, Everett T, Scott E, Levelt E
Diabetes Care 2022 Dec 1;45(12):3007-3015. doi: 10.2337/dc22-0401. PMID: 36099225Free PMC Article
de Souza FR, Dos Santos MR, Rochitte CE, Dos Santos RP, Jordão CP, Leite IS, da Fonseca GWP, Fonseca RA, de Oliveira TF, Yonamine M, Pereira RMR, Negrão CE, Alves NNMJ
Int J Sports Med 2022 Feb;43(2):183-191. Epub 2021 Aug 2 doi: 10.1055/a-1518-7953. PMID: 34341973
Ito Y, Yoshida M, Masuda H, Maeda D, Kudo-Asabe Y, Umakoshi M, Nanjo H, Goto A
Sci Rep 2021 Jun 4;11(1):11852. doi: 10.1038/s41598-021-90502-1. PMID: 34088908Free PMC Article
West JB
Clin Physiol 1990 May;10(3):265-72. doi: 10.1111/j.1475-097x.1990.tb00095.x. PMID: 2140966
Attali JR, Sachs RN, Valensi P, Palsky D, Tellier P, Vulpillat M, Lanfranchi J, Sebaoun J
Diabetes Res Clin Pract 1988 Feb 19;4(3):183-90. doi: 10.1016/s0168-8227(88)80016-0. PMID: 3359918

Therapy

de Souza FR, Dos Santos MR, Rochitte CE, Dos Santos RP, Jordão CP, Leite IS, da Fonseca GWP, Fonseca RA, de Oliveira TF, Yonamine M, Pereira RMR, Negrão CE, Alves NNMJ
Int J Sports Med 2022 Feb;43(2):183-191. Epub 2021 Aug 2 doi: 10.1055/a-1518-7953. PMID: 34341973
Grover HS, Luthra S, Maroo S
J Formos Med Assoc 2014 Dec;113(12):892-8. Epub 2013 Nov 11 doi: 10.1016/j.jfma.2013.05.016. PMID: 24231094
Gattenlöhner S, Waller C, Ertl G, Bültmann BD, Müller-Hermelink HK, Marx A
Am J Pathol 2003 Sep;163(3):1081-90. doi: 10.1016/S0002-9440(10)63467-0. PMID: 12937148Free PMC Article
Jewitt DE
Eur Heart J 1989 Aug;10 Suppl C:53-9. doi: 10.1093/eurheartj/10.suppl_c.53. PMID: 2680498
Massie BM
Am J Med 1988 Apr 15;84(4A):36-46. doi: 10.1016/0002-9343(88)90468-8. PMID: 3064607

Prognosis

de Souza FR, Dos Santos MR, Rochitte CE, Dos Santos RP, Jordão CP, Leite IS, da Fonseca GWP, Fonseca RA, de Oliveira TF, Yonamine M, Pereira RMR, Negrão CE, Alves NNMJ
Int J Sports Med 2022 Feb;43(2):183-191. Epub 2021 Aug 2 doi: 10.1055/a-1518-7953. PMID: 34341973
Ito Y, Yoshida M, Masuda H, Maeda D, Kudo-Asabe Y, Umakoshi M, Nanjo H, Goto A
Sci Rep 2021 Jun 4;11(1):11852. doi: 10.1038/s41598-021-90502-1. PMID: 34088908Free PMC Article
West JB
Clin Physiol 1990 May;10(3):265-72. doi: 10.1111/j.1475-097x.1990.tb00095.x. PMID: 2140966
Jewitt DE
Eur Heart J 1989 Aug;10 Suppl C:53-9. doi: 10.1093/eurheartj/10.suppl_c.53. PMID: 2680498
Rediker DE, Boucher CA, Block PC, Akins CW, Buckley MJ, Fifer MA
Am J Cardiol 1987 Jul 1;60(1):112-8. doi: 10.1016/0002-9149(87)90996-9. PMID: 3604924

Clinical prediction guides

de Souza FR, Dos Santos MR, Rochitte CE, Dos Santos RP, Jordão CP, Leite IS, da Fonseca GWP, Fonseca RA, de Oliveira TF, Yonamine M, Pereira RMR, Negrão CE, Alves NNMJ
Int J Sports Med 2022 Feb;43(2):183-191. Epub 2021 Aug 2 doi: 10.1055/a-1518-7953. PMID: 34341973
Ito Y, Yoshida M, Masuda H, Maeda D, Kudo-Asabe Y, Umakoshi M, Nanjo H, Goto A
Sci Rep 2021 Jun 4;11(1):11852. doi: 10.1038/s41598-021-90502-1. PMID: 34088908Free PMC Article
Matsa LS, Sagurthi SR, Ananthapur V, Nalla S, Nallari P
Gene 2014 Sep 15;548(2):256-62. Epub 2014 Jul 15 doi: 10.1016/j.gene.2014.07.043. PMID: 25042451
Gattenlöhner S, Waller C, Ertl G, Bültmann BD, Müller-Hermelink HK, Marx A
Am J Pathol 2003 Sep;163(3):1081-90. doi: 10.1016/S0002-9440(10)63467-0. PMID: 12937148Free PMC Article
West JB
Clin Physiol 1990 May;10(3):265-72. doi: 10.1111/j.1475-097x.1990.tb00095.x. PMID: 2140966

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