The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family

Sci Rep. 2020 Oct 5;10(1):16478. doi: 10.1038/s41598-020-73359-8.

Abstract

Phospholamban (PLN) is an important regulator for sarcoendoplasmic reticulum (SR) calcium transport ATPase (SERCA), which uptakes Ca2+ to SR during the diastolic phase of cardiomyocytes to maintain intracellular calcium homeostasis. Mutations on PLN result in intracellular calcium disorder, myocardial contraction defect, and eventually heart failure and/or malignant ventricular arrhythmia. Since 2003, several kinds of PLN mutations have been identified in familial dilated cardiomyopathy (DCM) patients, illustrating a few clinical characteristics that differs from classical DCM patients. Herein, we report a large PLN-R14del family with typical clinical characteristics reported including relatively late-onset clinical symptoms, low-voltage in ECG, as well as frequent ventricular arrythmias. Moreover, members underwent cardiac magnetic resonance (CMR) examination showed a strikingly similar pattern of late gadolinium enhancement (LGE)-Sub-epicardial involvement in the left ventricular (LV) lateral wall with or without linear mid-wall enhancement in the interventricular septum. The former one can also present in younger PLN-R14del carriers despite completely normal LV structure and function. Meanwhile, T1 mapping also found significantly increased extracellular volume (ECV) in PLN-R14del carriers. These findings highlight the special role of CMR to phenotyping PLN-induced cardiomyopathy patients and distinguish them from other types of cardiomyopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / genetics
  • Arrhythmias, Cardiac / metabolism
  • Arrhythmias, Cardiac / pathology
  • Calcium-Binding Proteins / genetics*
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / metabolism
  • Cardiomyopathy, Dilated / pathology*
  • Contrast Media / metabolism
  • Family
  • Female
  • Gadolinium / metabolism
  • Heart Ventricles / metabolism
  • Heart Ventricles / pathology*
  • Humans
  • Magnetic Resonance Spectroscopy / methods
  • Middle Aged
  • Myocytes, Cardiac / pathology*
  • Phenotype

Substances

  • Calcium-Binding Proteins
  • Contrast Media
  • phospholamban
  • Gadolinium

Supplementary concepts

  • Familial dilated cardiomyopathy