PMC6458885_01
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
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fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Short-axis and four chamber cine images from the initial and latest cardiovascular magnetic resonance scans of I:1 (a, b) and (c, d) II:1 from family A. Top row for each set of four images shows cine images, and the bottom row shows late gadolinium enhancement images. (a) On the first study, there is increased left ventricular wall thickness (maximum 12 mm, white arrowheads). No late gadolinium enhancement is present. (b) The latest scan shows marked asymmetric left ventricular hypertrophy (maximum 22 mm, dotted arrows) with patchy myocardial fibrosis (white arrows). (c) The first cardiovascular magnetic resonance scan showed moderate asymmetric septal hypertrophy (maximum 16 mm, white arrowheads) which appears to have mildly increased on the latest scan ((d), white arrows). (c, d) No areas of late gadolinium enhancement are identified.
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fig2
Over the following six years, he developed severe left ventricular hypertrophy with myocardial fibrosis (Figures 2(c) and 2(d)).
PMC6458885_02
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
CRIPE2019-7640140.001.jpg
PMC6458885_07_CRIPE2019-7640140.001.jpg
fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Short-axis and four chamber cine images from the initial and latest cardiovascular magnetic resonance scans of I:1 (a, b) and (c, d) II:1 from family A. Top row for each set of four images shows cine images, and the bottom row shows late gadolinium enhancement images. (a) On the first study, there is increased left ventricular wall thickness (maximum 12 mm, white arrowheads). No late gadolinium enhancement is present. (b) The latest scan shows marked asymmetric left ventricular hypertrophy (maximum 22 mm, dotted arrows) with patchy myocardial fibrosis (white arrows). (c) The first cardiovascular magnetic resonance scan showed moderate asymmetric septal hypertrophy (maximum 16 mm, white arrowheads) which appears to have mildly increased on the latest scan ((d), white arrows). (c, d) No areas of late gadolinium enhancement are identified.
CRIPE2019-7640140.002.jpg
PMC6458885_02_CRIPE2019-7640140.002.jpg
fig2
Over the following six years, he developed severe left ventricular hypertrophy with myocardial fibrosis (Figures 2(c) and 2(d)).
PMC6458885_03
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
CRIPE2019-7640140.001.jpg
PMC6458885_07_CRIPE2019-7640140.001.jpg
fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Short-axis and four chamber cine images from the initial cardiovascular magnetic resonance scans of II:2 (a) and II:3 (b) from family A. Top row for each set of four images shows cine images and the bottom row late gadolinium enhancement images. (a, b) Mild asymmetric left ventricular hypertrophy (maximum wall thickness: (a) 13 mm; (b) 14 mm). No late gadolinium enhancement is demonstrated.
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fig3
However, her latest echocardiogram and cardiovascular magnetic resonance showed a mild hypertrophic cardiomyopathy phenotype (Figure 3(b)).
PMC6458885_04
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
CRIPE2019-7640140.001.jpg
PMC6458885_07_CRIPE2019-7640140.001.jpg
fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Short-axis and four chamber cine images from the initial cardiovascular magnetic resonance scans of II:2 (a) and II:3 (b) from family A. Top row for each set of four images shows cine images and the bottom row late gadolinium enhancement images. (a, b) Mild asymmetric left ventricular hypertrophy (maximum wall thickness: (a) 13 mm; (b) 14 mm). No late gadolinium enhancement is demonstrated.
CRIPE2019-7640140.003.jpg
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fig3
However, her latest echocardiogram and cardiovascular magnetic resonance showed a mild hypertrophic cardiomyopathy phenotype (Figure 3(b)).
PMC6458885_05
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
CRIPE2019-7640140.001.jpg
PMC6458885_07_CRIPE2019-7640140.001.jpg
fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Short-axis and four chamber cine images from the initial and latest cardiovascular magnetic resonance scans of (a, b) II:1 and (c, d) II:2 from family B. Top row for each set of four images shows cine images, and the bottom row shows late gadolinium enhancement images. (a) The initial study showed asymmetric left ventricular hypertrophy (white arrowheads) with a maximum wall thickness of 15 mm, and no areas of late gadolinium enhancement were present. (b) On the latest follow-up scan, there is marked left ventricular hypertrophy (42 mm; dotted arrows) and patchy midwall v along with regions of subepicardial enhancement (white arrows). (c, d) Mild asymmetric left ventricular hypertrophy on the initial scan and the latest scan (15-17 mm). No regions of late gadolinium enhancement are present.
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fig4
Echocardiogram and cardiovascular magnetic resonance demonstrated mild asymmetrical hypertrophy of the basal and midseptum with a maximum thickness of 15mm and inducible myocardial ischaemia, but with no fibrosis (Figures 4(c) and 4(d)).
PMC6458885_06
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
CRIPE2019-7640140.001.jpg
PMC6458885_07_CRIPE2019-7640140.001.jpg
fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Short-axis and four chamber cine images from the initial and latest cardiovascular magnetic resonance scans of (a, b) II:1 and (c, d) II:2 from family B. Top row for each set of four images shows cine images, and the bottom row shows late gadolinium enhancement images. (a) The initial study showed asymmetric left ventricular hypertrophy (white arrowheads) with a maximum wall thickness of 15 mm, and no areas of late gadolinium enhancement were present. (b) On the latest follow-up scan, there is marked left ventricular hypertrophy (42 mm; dotted arrows) and patchy midwall v along with regions of subepicardial enhancement (white arrows). (c, d) Mild asymmetric left ventricular hypertrophy on the initial scan and the latest scan (15-17 mm). No regions of late gadolinium enhancement are present.
CRIPE2019-7640140.004.jpg
PMC6458885_06_CRIPE2019-7640140.004.jpg
fig4
Echocardiogram and cardiovascular magnetic resonance demonstrated mild asymmetrical hypertrophy of the basal and midseptum with a maximum thickness of 15mm and inducible myocardial ischaemia, but with no fibrosis (Figures 4(c) and 4(d)).
PMC6458885_07
A pedigree of two families with PRKAG2 variant mutations and phenotypes. Upper left quadrant shaded indicated confirmed PRKAG2-positive mutation. Upper right quadrant shaded indicated hypertrophic cardiomyopathy. Lower left quadrant shaded indicated preexcitation identified on ECG, and lower right quadrant shaded indicated skeletal myopathy. ICD, implantable cardiac defibrillator.
CRIPE2019-7640140.001.jpg
PMC6458885_07_CRIPE2019-7640140.001.jpg
fig1
The proband's mother (I:2 in Figure 1(b)), a 52-year-old woman, presented at age 44, with occasional transient palpitations, dizzy spells, and mild tinnitus.
Initial cardiovascular magnetic resonance scan of patient I:2 from family B taken in 2009. (a) Cine images and (b) late gadolinium enhancement images. Asymmetric left ventricular hypertrophy (15 mm), no areas of late gadolinium enhancement.
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fig5
Initial echocardiogram and cardiovascular magnetic resonance showed asymmetric septal hypertrophy with a maximum thickness of 15 mm, with no left ventricular outflow tract obstruction and no fibrosis (Figure 5).