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Prenatal Diagnosis of Isolated Right Ventricular Non-Compaction Cardiomyopathy with an MYH7 Likely Pathogenic Variant.

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  • معلومة اضافية
    • المصدر:
      Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE
    • بيانات النشر:
      Publication: London : Informa Healthcare
      Original Publication: Philadelphia, PA : Taylor & Francis, c2004-
    • الموضوع:
      Cardiomyopathies*/diagnosis ; Cardiomyopathies*/genetics ; Cardiomyopathies*/pathology ; Heart Defects, Congenital*/pathology; Pregnancy ; Female ; Humans ; Adult ; Myocardium/pathology ; Heart Ventricles ; Prenatal Diagnosis ; Myosin Heavy Chains/genetics ; Cardiac Myosins/genetics
    • نبذة مختصرة :
      Background : Noncompaction of ventricular myocardium is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. Case Report: A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops. At autopsy, the right ventricular chamber was dilated with numerous prominent trabeculations and deep intrabecular recesses as well as a dysplastic tricuspid valve. Histologic examination confirmed isolated right ventricular noncompaction. Whole exome sequencing showed a likely pathogenic variant in the MYH7 gene. Conclusions: This appears to be the first report of isolated right ventricular noncompaction associated with a gene mutation as well as the first diagnosis in a fetus.
    • Contributed Indexing:
      Keywords: Fetal autopsy; MYH7 mutation; noncompaction of ventricular myocardium; prenatal diagnosis; right ventricular noncompaction
    • الرقم المعرف:
      0 (MYH7 protein, human)
      EC 3.6.4.1 (Myosin Heavy Chains)
      EC 3.6.1.- (Cardiac Myosins)
    • الموضوع:
      Date Created: 20230111 Date Completed: 20230529 Latest Revision: 20230529
    • الموضوع:
      20231215
    • الرقم المعرف:
      10.1080/15513815.2022.2120785
    • الرقم المعرف:
      36630130