Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients

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  • Miyake Wataru
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Minemoto Mayu
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Hayama Hiromasa
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Yamamoto Masaya
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Okazaki Toru
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Takano Kozue
    Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine Medical Genomics Center, Research Institute, National Center for Global Health and Medicine
  • Mori Kotaro
    Medical Genomics Center, Research Institute, National Center for Global Health and Medicine
  • Okazaki Atsuko
    Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine
  • Arakawa Reiko
    Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine Medical Genomics Center, Research Institute, National Center for Global Health and Medicine
  • Hara Hisao
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Takeuchi Fumihiko
    Medical Genomics Center, Research Institute, National Center for Global Health and Medicine Department of Gene Diagnostics and Therapeutics, Research Institute, National Center for Global Health and Medicine
  • Hiroi Yukio
    Department of Cardiology, Center Hospital, National Center for Global Health and Medicine
  • Kato Norihiro
    Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine Medical Genomics Center, Research Institute, National Center for Global Health and Medicine Department of Gene Diagnostics and Therapeutics, Research Institute, National Center for Global Health and Medicine

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Abstract

<p>Left ventricular noncompaction cardiomyopathy (LVNC) is a heart muscle disorder morphologically characterized by reticulated trabeculations and intertrabecular recesses in the left ventricular (LV) cavity. LVNC is a genetically and phenotypically heterogeneous condition, which has been increasingly recognized with the accumulation of evidence provided by genotype-phenotype correlation analyses. Here, we report 2 sporadic adult cases of LVNC; both developed acute heart failure as an initial clinical manifestation and harbored causal sarcomere gene mutations. One case was a 57-year-old male with digenic heterozygote mutations, p.R1344Q in myosin heavy chain 7 (MYH7) and p.R144W in troponin T2, cardiac type (TNNT2), who showed morphological characteristics of LVNC in the lateral to apical regions of the LV together with a comorbidity of non-transmural myocardial infarction, resulting from a coronary artery stenosis. After the removal of ischemic insult and standard heart failure treatment, LVNC became less clear, and LV function gradually improved. The other case was a 36-year-old male with a heterozygote mutation, p.E334K in myosin binding protein C3 (MYBPC3), who exhibited cardiogenic shock on admission with morphological characteristics of LVNC being most prominent in the apical segment of the LV. The dosage of beta-blocker was deliberately increased in an outpatient clinic over 6 months following hospitalization, which remarkably improved the LV ejection fraction from 21% to 54.3%. Via a combination of imaging and histopathological and genetic tests, we have found that these cases are not compatible with a persistent phenotype of primary cardiomyopathy, but their morphological features are changeable in response to treatment. Thus, we point out phenotypic plasticity or undulation as a noticeable element of LVNC in this case report.</p>

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