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Dilated Cardiomyopathy Phenotype-Associated Left Ventricular Noncompaction and Congenital Long QT Syndrome Type-2 in Infants With KCNH2 Gene Mutation: Anesthetic Considerations

      LEFT VENTRICULAR noncompaction (LVNC) is encountered on rare occasions as an intrinsic part of an infantile cardiomyopathy.
      • Arbustini E
      • Favalli V
      • Narula N
      • et al.
      Left ventricular noncompaction: A distinct genetic cardiomyopathy?.
      In the presence of an underlying genetic cause, LVNC may be associated with left ventricular dilation and ventricular dysfunction.
      • Arbustini E
      • Favalli V
      • Narula N
      • et al.
      Left ventricular noncompaction: A distinct genetic cardiomyopathy?.
      MYH7, MYBPC3, TPM1, TAZ, TTN, and NONO genes are known to cause LVNC.2LVNC also may be associated with long QT syndrome (LQTS), torsade de pointes, ventricular fibrillation, etc, in the presence of a KCNH2 gene mutation.
      • Lin Y
      • Huang J
      • Zhu Z
      • et al.
      Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
      The incidence of a dilated cardiomyopathy in association with a familial LQTS type-1 caused by KCNQ1 (a voltage-gated potassium channel gene) mutation and an LQTS type-3 due to SCN5A (a sodium channel gene) mutation has been reported.
      • Allen KY
      • Vetter VL
      • Shah MJ
      • et al.
      Familial long QT syndrome and late development of dilated cardiomyopathy in a child with a KCNQ1 mutation: A case report.
      • Kwon HW
      • Lee SY
      • Kwon BS
      • et al.
      Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: Cardioverter-defibrillator implantation at 27 months.
      • McNair WP
      • Sinagra G
      • Taylor MR
      • et al.
      SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
      This case study describes an infant who presented with early-onset dilated cardiomyopathy with heart failure associated with LVNC, combined with a symptomatic long QT channelopathy arrhythmia and an underlying KCNH2 gene mutation. The child underwent a cardiac resynchronization therapy defibrillator (CRTD) device placement under general anesthesia. The anesthesia challenges were that the infant had a grossly reduced ejection fraction due to the LVNC and a propensity for polymorphic tachycardias due to the underlying genetic channelopathy. Institutional ethical committee approval (SRC#CR36/2021) and informed consent from the parents of the infant were obtained for this publication.

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