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Perinuclear cardiomyocyte vacuolization

MedGen UID:
1800809
•Concept ID:
C5558373
•
Finding
HPO: HP:0033997

Definition

Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPerinuclear cardiomyocyte vacuolization

Conditions with this feature

Cardiomyopathy, dilated, 2D
MedGen UID:
1782612
•Concept ID:
C5543535
•
Disease or Syndrome
Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation (Ganapathi et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.
See: Condition Record
Cardiomyopathy, dilated, 2D

Recent clinical studies

Etiology

Light and electron microscopic features of surgically excised left atrial appendage in rheumatic heart disease patients with atrial fibrillation and sinus rhythm.
Sharma S, Sharma G, Hote M, Devagourou V, Kesari V, Arava S, Airan B, Ray R
Cardiovasc Pathol 2014 Nov-Dec;23(6):319-26. Epub 2014 Aug 6 doi: 10.1016/j.carpath.2014.07.008. PMID: 25216788
Chloroquine cardiotoxicity: clinicopathologic features in three patients and comparison with three patients with Fabry disease.
Roos JM, Aubry MC, Edwards WD
Cardiovasc Pathol 2002 Sep-Oct;11(5):277-83. doi: 10.1016/s1054-8807(02)00118-7. PMID: 12361838

Diagnosis

Chloroquine cardiotoxicity: clinicopathologic features in three patients and comparison with three patients with Fabry disease.
Roos JM, Aubry MC, Edwards WD
Cardiovasc Pathol 2002 Sep-Oct;11(5):277-83. doi: 10.1016/s1054-8807(02)00118-7. PMID: 12361838
Histologic analysis of myocardial biopsies from donor hearts before transplantation.
Frasik W, Garlicki M, Lazar A, Dziatkowiak A
Pol J Pathol 1994;45(2):93-9. PMID: 8062071

Therapy

Chloroquine cardiotoxicity: clinicopathologic features in three patients and comparison with three patients with Fabry disease.
Roos JM, Aubry MC, Edwards WD
Cardiovasc Pathol 2002 Sep-Oct;11(5):277-83. doi: 10.1016/s1054-8807(02)00118-7. PMID: 12361838

Clinical prediction guides

Light and electron microscopic features of surgically excised left atrial appendage in rheumatic heart disease patients with atrial fibrillation and sinus rhythm.
Sharma S, Sharma G, Hote M, Devagourou V, Kesari V, Arava S, Airan B, Ray R
Cardiovasc Pathol 2014 Nov-Dec;23(6):319-26. Epub 2014 Aug 6 doi: 10.1016/j.carpath.2014.07.008. PMID: 25216788
Chloroquine cardiotoxicity: clinicopathologic features in three patients and comparison with three patients with Fabry disease.
Roos JM, Aubry MC, Edwards WD
Cardiovasc Pathol 2002 Sep-Oct;11(5):277-83. doi: 10.1016/s1054-8807(02)00118-7. PMID: 12361838
Histologic analysis of myocardial biopsies from donor hearts before transplantation.
Frasik W, Garlicki M, Lazar A, Dziatkowiak A
Pol J Pathol 1994;45(2):93-9. PMID: 8062071

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