Association between QRS voltages and amyloid burden in patients with cardiac amyloidosis.

PRKAG2 Gene Mutation Indicating Myocardial Hypertrophy and Wolff-Parkinson-White Syndrome in a 28-Year-Old Woman.

[Late gadolinium enhancement distribution pattern of left ventricular wall in patients with dilated cardiomyopathy: a preliminary study].

Objective: To investigate the distribution pattern of late gadolinium enhancement (LGE) in left ventricular free wall of patients with dilated cardiomyopathy (DCM). Methods: A total of 130 consecutive DCM patients who were hospitalized in our hospital, underwent both CMR and CTA examinations and met the inclusion and exclusion criteria including negative results of coronary angiography or coronary CTA, were retrospective included in this study. The LGE pattern, extent and distribution in left ventricular free wall were analyzed. Results: Left ventricular free wall LGE was detected in 56 out of 130 DCM patients. LGE was observed in both septal and free wall in 53 out of 56 patients with LGE (94.6%). Prevalence of NYHA classification Ⅲ/Ⅳ, intraventricular block, paroxysmal ventricular tachycardia, and secondary mitral insufficiency was significantly higher, while left ventricular ejection fraction was significantly lower, left ventricular end-diastolic/systolic volume, left ventricular end-diastolic/systolic volume index and left ventricular end-diastolic diameters values were larger in patients with LGE than without LGE (all P<0.05). In terms LGE pattern among these 56 patients, percent of involved myocardial segments in patients with subepicardial LGE (n=19) was significantly higher than patients with intermural LGE (n=30), patients with transmural LGE (n=21), and patients with subendocardial LGE (n=9)(60.8%(127/209) vs. 32.4%(107/330), 32.5%(75/231), 26.3%(26/99), respectively, all P < 0.01). Transmural LGE was most likely to involve the left ventricular inferior lateral basal (18/21) and mid (13/21) segment, followed by anterior lateral basal (15/21) and mid (11/21) segments and inferior mid segment (9/21). Subepicardial LGE was more likely to occur in the inferior lateral basal (13/19) and mid (16/19) segment, anterior lateral basal (13/19) and mid (15/19) segment, anterior lateral basal (13/19) and mid (15/19) segment, lateral apical (13/19), anterior and inferior mid segment (12/19 and 10/19), and apical segment (15/19 and 10/19). Intermural LGE mostly involved the anterior and inferior basal (19/30, 16/30) and mid (18/30 and 14/30) segment. There were 33 cases of single LGE pattern and 23 cases of multiple LGE pattern. Percent of involved myocardial segments was significantly higher in multiple LGE group than single LGE group (60.9% (154/253) vs. 49.9%(181/363), P = 0.007). Of 130 patients, 23 received heart transplantation, of which 6 patients had septal LGE alone and 17 patients had septal and free wall LGE. The rate of heart transplantation in the latter group was higher (32.1% (17/53)vs. 13.6%(6/44), P=0.034). Conclusions: There are several LGE distribution patterns in left ventricular wall among DCM patients.

Myocardial late gadolinium enhancement: a head-to-head comparison of motion-corrected balanced steady-state free precession with segmented turbo fast low angle shot.

AIM:To evaluate the image quality and diagnostic agreement with a head-to-head comparison of late gadolinium enhancement (LGE) images acquired by the motion-corrected (MOCO) balanced steady-state free precession (bSSFP) phase sensitivity inversion recovery (PSIR) and conventional segmented fast low angle shot (FLASH) PSIR methods15,16 in a patient cohort with a wide spectrum of cardiovascular disease.MATERIALS AND METHODS:In 59 consecutive patients, signal-to-noise ratios (SNRs), contrast-to-noise ratios (CNRs) of the normal myocardium (NM), LGE, and blood pool (BP) were pair-wise compared between the two different sequences. A further semi-qualitative score system (graded 1 -4) was used to compare the overall image quality (OIQ). The diagnostic agreement of the two techniques were evaluated by both transmural severity and absolutely quantitative size of LGE.RESULTS:The SNRs of the NM, LGE, and BP of MOCO bSSFP were 4.8±3.4, 53.6±35.6 and 43.2±29.3, compared with 3.9±3.6 (p=0.126), 27.7±18.5 (p<0.001) and 24.3±13.4 (p<0.001) of FLASH LGE, respectively. The CNRs of LGE to NM, LGE to BP, and BP to NM were 48.3±33.1 versus 23.8±16.7 (p<0.001), 6.5±21.6 versus 3.8±10.8 (p<0.001), and 38.3±27.2 versus 20.3±10.7 (p=0.448), respectively. The OIQ of MOCO bSSFP was higher than that of segmented FLASH (median 4 versus median 3, p<0.001). For quantification of LGE size, there is good agreement and high correlation (r=0.992, p<0.001) between the two methods.CONCLUSIONS:MOCO bSSFP is a feasible, robust sequence for LGE imaging, especially for patients with arrhythmia and those incapable of breath-holding due to severe heart failure.

Myocardial extracellular volume fraction quantified by cardiovascular magnetic resonance is increased in hypertension and associated with left ventricular remodeling.

OBJECTIVES:To determine whether extracellular volume fraction (ECV) quantification by cardiac magnetic resonance (CMR) can demonstrate left ventricle (LV) abnormalities and relationship between ECV and LV remodeling in hypertension (HTN) patients METHODS: ECV quantification was prospectively performed in 134 consecutive HTN patients and 97 healthy subjects. Individual and regional ECV were compared to the regions on late gadolinium enhancement (LGE) images. Statistical analysis of the relationship between LV global functional parameters and ECV was carried out using Pearson's correlation, Student's t test and multiple regressions.RESULTS:In the HTN group, 70.1% (94/134) were LGE negative and 29.9% (40/134) LGE positive. The mean ECV after adjusting for age, sex, BMI, diabetes, smoking and dyslipidaemia in healthy controls and LGE-negative patients were 26.9 ± 2.67% and 28.5 ± 2.9% (p < 0.001), respectively. The differences in ECV reached statistical significance among the regions of LGE, LGE-Peri, LGE remote and the normal area between the control and LGE-positive subgroup (all p < 0.05). Global ECV significantly correlated with LVEF (r = -0.466, p < 0 .001) and LV hypertrophy (r = 0.667, p < 0.001).CONCLUSIONS:ECV can identify LV abnormalities at an early stage in HTN patients without LGE. These abnormalities may reflect an increase in diffuse myocardial fibrosis and are associated with LV remodeling.KEY POINTS:• Diffuse myocardial fibrosis may develop in hypertensive cardiomyopathy before conventional MRI detectable LGE. • ECV can identify myocardial fibrosis at an early stage in hypertensive patients. • Elevated ECV is associated with decreased LV global function and LV remodeling in hypertension.

CMR assessment of the left ventricle apical morphology in subjects with unexplainable giant T-wave inversion and without apical wall thickness ≥15 mm.

AIMS:Patients with unexplainable giant T-wave inversion in the precordial leads and apical wall thickness <15 mm have been reported. These patients cannot be diagnosed as apical hypertrophic cardiomyopathy (AHCM) according to the current criteria. The objective of this study was to evaluate the apical morphological features of this type of patients using cardiac magnetic resonance.METHODS AND RESULTS:Institutional ethics approval and written informed consent were obtained. A total of 60 subjects with unexplainable giant T-wave inversion and 76 healthy volunteers were prospectively enrolled in the study. The segmented left ventricular (LV) wall thickness was measured according to the American Heart Association 17-segmented model. The apical angle (apA) as well as the regional variations in LV wall thickness was analysed. Considerable variation in LV wall thickness in normals was observed with progressive thinning from the base to apex (male and female, P < 0.01). The apical thickness of subjects with giant T-wave inversion was 8.10 ± 1.67 mm in male, which is thicker than that of controls (4.14 ± 1.17 mm, P < 0.01). In female, the apical thickness was also significantly different from controls (5.85 ± 2.16 vs. 2.99 ± 0.65 mm, P < 0.01). Compared with normals, the apA decreased significantly in male (87.44 ± 13.86 vs.115.03 ± 9.90°, P < 0.01) and female (90.69 ± 8.84 vs. 110.07 ± 13.58°, P < 0.01) subjects, respectively.CONCLUSION:Although the absolute thickness of apical wall was below the current diagnostic criteria of AHCM, the apical morphological features of subjects with unexplainable giant T-wave inversion were significantly different from normals. Whether these subjects should be included into a preclinical scope of AHCM needs further investigations.

A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.

PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2. This mutation had not been identified in the ExAC database, and the prediction result of MutationTaster indicated a deleterious effect. Furthermore, it cosegregated with the disease in the present family and was absent in unrelated 300 healthy controls. cDNA analysis did not detect any splicing defects, although the variant occurred in the first base of exon 9. CMR evaluation in five affected members showed diffuse hypertrophy in a concentric pattern, with markedly increased left ventricular mass above age and gender limits (median 151.3 g/m2, range 108.4-233.4 g/m2). Two patients in progressive stage and one patient with sudden cardiac death exhibited extensive subendocardial late gadolinium enhancement. In conclusion, molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. CMR offers promising advantages for evaluation of PRKAG2 cardiomyopathy.

Association between QRS voltages and amyloid burden in patients with cardiac amyloidosis.

PRKAG2 Gene Mutation Indicating Myocardial Hypertrophy and Wolff-Parkinson-White Syndrome in a 28-Year-Old Woman.

[Late gadolinium enhancement distribution pattern of left ventricular wall in patients with dilated cardiomyopathy: a preliminary study].

Objective: To investigate the distribution pattern of late gadolinium enhancement (LGE) in left ventricular free wall of patients with dilated cardiomyopathy (DCM). Methods: A total of 130 consecutive DCM patients who were hospitalized in our hospital, underwent both CMR and CTA examinations and met the inclusion and exclusion criteria including negative results of coronary angiography or coronary CTA, were retrospective included in this study. The LGE pattern, extent and distribution in left ventricular free wall were analyzed. Results: Left ventricular free wall LGE was detected in 56 out of 130 DCM patients. LGE was observed in both septal and free wall in 53 out of 56 patients with LGE (94.6%). Prevalence of NYHA classification Ⅲ/Ⅳ, intraventricular block, paroxysmal ventricular tachycardia, and secondary mitral insufficiency was significantly higher, while left ventricular ejection fraction was significantly lower, left ventricular end-diastolic/systolic volume, left ventricular end-diastolic/systolic volume index and left ventricular end-diastolic diameters values were larger in patients with LGE than without LGE (all P<0.05). In terms LGE pattern among these 56 patients, percent of involved myocardial segments in patients with subepicardial LGE (n=19) was significantly higher than patients with intermural LGE (n=30), patients with transmural LGE (n=21), and patients with subendocardial LGE (n=9)(60.8%(127/209) vs. 32.4%(107/330), 32.5%(75/231), 26.3%(26/99), respectively, all P < 0.01). Transmural LGE was most likely to involve the left ventricular inferior lateral basal (18/21) and mid (13/21) segment, followed by anterior lateral basal (15/21) and mid (11/21) segments and inferior mid segment (9/21). Subepicardial LGE was more likely to occur in the inferior lateral basal (13/19) and mid (16/19) segment, anterior lateral basal (13/19) and mid (15/19) segment, anterior lateral basal (13/19) and mid (15/19) segment, lateral apical (13/19), anterior and inferior mid segment (12/19 and 10/19), and apical segment (15/19 and 10/19). Intermural LGE mostly involved the anterior and inferior basal (19/30, 16/30) and mid (18/30 and 14/30) segment. There were 33 cases of single LGE pattern and 23 cases of multiple LGE pattern. Percent of involved myocardial segments was significantly higher in multiple LGE group than single LGE group (60.9% (154/253) vs. 49.9%(181/363), P = 0.007). Of 130 patients, 23 received heart transplantation, of which 6 patients had septal LGE alone and 17 patients had septal and free wall LGE. The rate of heart transplantation in the latter group was higher (32.1% (17/53)vs. 13.6%(6/44), P=0.034). Conclusions: There are several LGE distribution patterns in left ventricular wall among DCM patients.

Myocardial late gadolinium enhancement: a head-to-head comparison of motion-corrected balanced steady-state free precession with segmented turbo fast low angle shot.

AIM:To evaluate the image quality and diagnostic agreement with a head-to-head comparison of late gadolinium enhancement (LGE) images acquired by the motion-corrected (MOCO) balanced steady-state free precession (bSSFP) phase sensitivity inversion recovery (PSIR) and conventional segmented fast low angle shot (FLASH) PSIR methods15,16 in a patient cohort with a wide spectrum of cardiovascular disease.MATERIALS AND METHODS:In 59 consecutive patients, signal-to-noise ratios (SNRs), contrast-to-noise ratios (CNRs) of the normal myocardium (NM), LGE, and blood pool (BP) were pair-wise compared between the two different sequences. A further semi-qualitative score system (graded 1 -4) was used to compare the overall image quality (OIQ). The diagnostic agreement of the two techniques were evaluated by both transmural severity and absolutely quantitative size of LGE.RESULTS:The SNRs of the NM, LGE, and BP of MOCO bSSFP were 4.8±3.4, 53.6±35.6 and 43.2±29.3, compared with 3.9±3.6 (p=0.126), 27.7±18.5 (p<0.001) and 24.3±13.4 (p<0.001) of FLASH LGE, respectively. The CNRs of LGE to NM, LGE to BP, and BP to NM were 48.3±33.1 versus 23.8±16.7 (p<0.001), 6.5±21.6 versus 3.8±10.8 (p<0.001), and 38.3±27.2 versus 20.3±10.7 (p=0.448), respectively. The OIQ of MOCO bSSFP was higher than that of segmented FLASH (median 4 versus median 3, p<0.001). For quantification of LGE size, there is good agreement and high correlation (r=0.992, p<0.001) between the two methods.CONCLUSIONS:MOCO bSSFP is a feasible, robust sequence for LGE imaging, especially for patients with arrhythmia and those incapable of breath-holding due to severe heart failure.

Myocardial extracellular volume fraction quantified by cardiovascular magnetic resonance is increased in hypertension and associated with left ventricular remodeling.

OBJECTIVES:To determine whether extracellular volume fraction (ECV) quantification by cardiac magnetic resonance (CMR) can demonstrate left ventricle (LV) abnormalities and relationship between ECV and LV remodeling in hypertension (HTN) patients METHODS: ECV quantification was prospectively performed in 134 consecutive HTN patients and 97 healthy subjects. Individual and regional ECV were compared to the regions on late gadolinium enhancement (LGE) images. Statistical analysis of the relationship between LV global functional parameters and ECV was carried out using Pearson's correlation, Student's t test and multiple regressions.RESULTS:In the HTN group, 70.1% (94/134) were LGE negative and 29.9% (40/134) LGE positive. The mean ECV after adjusting for age, sex, BMI, diabetes, smoking and dyslipidaemia in healthy controls and LGE-negative patients were 26.9 ± 2.67% and 28.5 ± 2.9% (p < 0.001), respectively. The differences in ECV reached statistical significance among the regions of LGE, LGE-Peri, LGE remote and the normal area between the control and LGE-positive subgroup (all p < 0.05). Global ECV significantly correlated with LVEF (r = -0.466, p < 0 .001) and LV hypertrophy (r = 0.667, p < 0.001).CONCLUSIONS:ECV can identify LV abnormalities at an early stage in HTN patients without LGE. These abnormalities may reflect an increase in diffuse myocardial fibrosis and are associated with LV remodeling.KEY POINTS:• Diffuse myocardial fibrosis may develop in hypertensive cardiomyopathy before conventional MRI detectable LGE. • ECV can identify myocardial fibrosis at an early stage in hypertensive patients. • Elevated ECV is associated with decreased LV global function and LV remodeling in hypertension.

CMR assessment of the left ventricle apical morphology in subjects with unexplainable giant T-wave inversion and without apical wall thickness ≥15 mm.

AIMS:Patients with unexplainable giant T-wave inversion in the precordial leads and apical wall thickness <15 mm have been reported. These patients cannot be diagnosed as apical hypertrophic cardiomyopathy (AHCM) according to the current criteria. The objective of this study was to evaluate the apical morphological features of this type of patients using cardiac magnetic resonance.METHODS AND RESULTS:Institutional ethics approval and written informed consent were obtained. A total of 60 subjects with unexplainable giant T-wave inversion and 76 healthy volunteers were prospectively enrolled in the study. The segmented left ventricular (LV) wall thickness was measured according to the American Heart Association 17-segmented model. The apical angle (apA) as well as the regional variations in LV wall thickness was analysed. Considerable variation in LV wall thickness in normals was observed with progressive thinning from the base to apex (male and female, P < 0.01). The apical thickness of subjects with giant T-wave inversion was 8.10 ± 1.67 mm in male, which is thicker than that of controls (4.14 ± 1.17 mm, P < 0.01). In female, the apical thickness was also significantly different from controls (5.85 ± 2.16 vs. 2.99 ± 0.65 mm, P < 0.01). Compared with normals, the apA decreased significantly in male (87.44 ± 13.86 vs.115.03 ± 9.90°, P < 0.01) and female (90.69 ± 8.84 vs. 110.07 ± 13.58°, P < 0.01) subjects, respectively.CONCLUSION:Although the absolute thickness of apical wall was below the current diagnostic criteria of AHCM, the apical morphological features of subjects with unexplainable giant T-wave inversion were significantly different from normals. Whether these subjects should be included into a preclinical scope of AHCM needs further investigations.

A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.

PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2. This mutation had not been identified in the ExAC database, and the prediction result of MutationTaster indicated a deleterious effect. Furthermore, it cosegregated with the disease in the present family and was absent in unrelated 300 healthy controls. cDNA analysis did not detect any splicing defects, although the variant occurred in the first base of exon 9. CMR evaluation in five affected members showed diffuse hypertrophy in a concentric pattern, with markedly increased left ventricular mass above age and gender limits (median 151.3 g/m2, range 108.4-233.4 g/m2). Two patients in progressive stage and one patient with sudden cardiac death exhibited extensive subendocardial late gadolinium enhancement. In conclusion, molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. CMR offers promising advantages for evaluation of PRKAG2 cardiomyopathy.