Keywords
Speckle Tracking; PRKAG2 Mutation; Deformation Indices; Left Ventricular Hypertrophy, Cardiomegaly; Echocardiography/diagnosis
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%.
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.11 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. 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.
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Sources of FundingThere were no external funding sources for this study.
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Study AssociationThis article is part of the thesis of master submitted by Wander Costa Santos, from Faculdade de Ciências Médicas de Minas Gerais.
Reference
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1Sternick 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
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Publication in this collection
Nov 2018
History
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Received
06 Apr 2018 -
Reviewed
05 Sept 2018 -
Accepted
05 Sept 2018
