How Echocardiographic Deformation Indices Can Distinguish Different Types of Left Ventricular Hypertrophy

Keywords
Speckle Tracking; PRKAG2 Mutation; Deformation Indices; Left Ventricular Hypertrophy, Cardiomegaly; Echocardiography/diagnosis

Palavras-chave
Speckle Tracking; Mutação PRKAG2; Índices de Deformação Miocárdica; Hipertrofia Ventricular Esquerda; Ecocardiografia/diagnóstico

Keywords
Speckle Tracking; PRKAG2 Mutation; Deformation Indices; Left Ventricular Hypertrophy, Cardiomegaly; Echocardiography/diagnosis

Palavras-chave
Speckle Tracking; Mutação PRKAG2; Índices de Deformação Miocárdica; Hipertrofia Ventricular Esquerda; Ecocardiografia/diagnóstico

We present cases of athlete’s heart, idiopathic HCM, and glycogen storage cardiomyopathy (PRKAG2).

The two non-athlete patients (Pts) underwent genetic studies and myocardial biopsies.

Echocardiography showed moderate to severe LVH in all cases.

Case 1,Figure 1-A,A-3 - Athlete, male, 26, intense exercise practice. Automated function imaging: 2D LV strain bullseye map showing normal Longitudinal Regional Myocardial Deformation (LRMD), despite LVH. GLS (global longitudinal strain) -20.4%.

Figure 1
Two-dimensional echocardiography (A, B, C), endomyocardial biopsies (B1, B2, C1, C2) and bullseye maps (A3, B3, C3).

Case 2,Figure 1-B,B-1,B-2,B-3 - Male, 26, tachycardia and palpitations with myosin essential light chain 3 mutation. LRMD is typically reduced where hypertrophy is more accentuated. GLS -14.0%.

Figure B-1 - Section of RV ventricular myocardium in HCM, demonstrating marked myocyte hypertrophy and disorganization (HE-stained).

Figure B-2 - Gomoritrichrome stain (GS) showing intense fibrosis in extracellular matrix (blue) and cardiomyocyte architecture disarray.

Case 3,Figure 1-C,C-1,C-2,C-3 - Male, 22, palpitations and tachycardia. Genetic analysis found missense mutation, a heterozygous pathogenic variant for PRKAG2 c.905g > A p.(Arg302Gln). LRMD shows deformation levels in a striped pattern. GLS -10.5%.

Figure C1 - HE-stained RV showing myofiber vacuolization with gross granular glycogen inclusions within vacuoles, without cardiomyocyte architecture disarray.

Figure C2-GS showing intense myofiber vacuolization (white) and extracellular matrix collagen fibers without fibrosis (blue).

STE (speckle tracking echocardiography) differentiates LVH and infiltrative disorders. We tried to instantaneously identify disease-related patterns.

To our knowledge, we present the first pattern in a PRKAG2 mutation Pt bullseye map, differentiated from other causes of LVH.¹ We recommend GLS polar map analysis to improve accuracy in echocardiographic examinations involving moderate LVH. STE can suggest the etiology, critically important to improve therapeutic strategies.

• Sources of Funding
  There were no external funding sources for this study.
• Study Association
  This article is part of the thesis of master submitted by Wander Costa Santos, from Faculdade de Ciências Médicas de Minas Gerais.

Reference

• ¹ Sternick EB, Oliva A, Gerken LM, Magalhães L, Scarpelli R, Correia FS, et al. Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation. Heart Rhythm. 2011;8(1):58-64.

Publication Dates

• Publication in this collection
  Nov 2018

History

• Received
  06 Apr 2018
• Reviewed
  05 Sept 2018
• Accepted
  05 Sept 2018