ライフサイエンスコーパス: ARVD

1 ARVD diagnoses have become more common in older patients

2 ARVD patients present between the second and fifth decad

3 ARVD/C is an inherited cardiomyopathy characterized by V

4 ARVD/C patients had a significantly longer mean QRS dura

5 ARVD/C was diagnosed in 207 family members (37%).

6 The patient population included 100 ARVD patients (51 male; median age at presentation, 26 [

7 Eight (67%) of the 12 ARVD/C patients demonstrated increased signal on MDE-MRI

8 ocardial biopsy was performed in 9 of the 12 ARVD/C patients.

9 dle branch block/inferior axis pattern in 16 ARVD/C patients with that in 42 RVOT-VT patients.

10 6 controls and tricuspid annulus in 5 of 18 ARVD patients versus 2 of 6 controls (P=1.00).

11 al site was in the outflow tract in 13 of 18 ARVD patients versus 4 of 6 controls and tricuspid annul

12 e right ventricular anteroseptum in 17 of 18 ARVD patients versus 5 of 6 controls (P=0.446), and late

13 ignificant RV dyssynchrony was present in 26 ARVD/C patients (50%).

14 This study included 42 ARVD/C patients with ICDs (52% male, age 6 to 69 years,

15 th conventional and TDE, was performed in 52 ARVD/C patients fulfilling Task Force criteria and 25 co

16 DNA from 58 ARVD/C patients was sequenced to determine the presence

17 Among ARVD/C mutation carriers, the presence of both electrica

18 An ARVD/C is characterized by fibrofatty replacement of RV

19 t evaluation, 43 subjects (37%) fulfilled an ARVD/C diagnosis according to the 2010 Task Force Criter

20 osed of 64 individuals in 9 families with an ARVD/C proband previously shown to carry a pathogenic PK

21 exercise increase the risk of VT/VF, HF, and ARVD/C in desmosomal mutation carriers.

22 hip between those DSP missense mutations and ARVD/C, we performed in vitro and in vivo analyses of th

23 Ventricular arrhythmias in RVOT-VT and ARVD/C-VT patients can share a left bundle branch block/

24 Between ARVD patients and controls with a complete RBBB, the onl

25 ted discrimination in distinguishing between ARVD/C and CS.

26 This suggests a link between ARVD/C and the presence of viral genome (enterovirus or

27 artery patency, and unilateral or bilateral ARVD.

28 Patients with bilateral ARVD had greater LV mass index and LV dilation than pati

29 optimal sensitivity and specificity in both ARVD patients without a complete RBBB or incomplete RBBB

30 right ventricular activation is modified by ARVD scarring with a delayed epicardial activation seque

31 right ventricular dysplasia/cardiomyopathy (ARVD/C) after placement of an ICD for primary prevention

32 right ventricular dysplasia/cardiomyopathy (ARVD/C) among patients with desmosomal mutations.

33 t ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) and the relationship of these findings to diseas

34 right ventricular dysplasia/cardiomyopathy (ARVD/C) and to examine clinical features and predictors

35 right ventricular dysplasia/cardiomyopathy (ARVD/C) complicate family screening.

36 right ventricular dysplasia/cardiomyopathy (ARVD/C) from those with right ventricular outflow tract

37 right ventricular dysplasia/cardiomyopathy (ARVD/C) has a low success rate.

38 right ventricular dysplasia/cardiomyopathy (ARVD/C) have reported varied outcomes.

39 right ventricular dysplasia/cardiomyopathy (ARVD/C) is a cardiomyopathy characterized by ventricular

40 right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fibrofatty replac

41 right ventricular dysplasia/cardiomyopathy (ARVD/C) is a progressive cardiomyopathy.

42 right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by

43 right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease characterized by p

44 right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by frequent life-threatening ve

45 right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive degeneration of

46 right ventricular dysplasia/cardiomyopathy (ARVD/C) patients treated with an implantable cardioverte

47 right ventricular dysplasia/cardiomyopathy (ARVD/C) patients.

48 right ventricular dysplasia/cardiomyopathy (ARVD/C) using tissue Doppler echocardiography (TDE).

49 right ventricular dysplasia/cardiomyopathy (ARVD/C), and to investigate novel morphologic variants o

50 right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated desmosomal mutation carriers without

51 right ventricular dysplasia/cardiomyopathy (ARVD/C).

52 ic right ventricle dysplasia/cardiomyopathy (ARVD/C).

53 right ventricular dysplasia/cardiomyopathy (ARVD/C).

54 right ventricular dysplasia/cardiomyopathy (ARVD/C).

55 right ventricular dysplasia/cardiomyopathy (ARVD/C).

56 y members of 12 desmosomal mutation-carrying ARVD/C probands underwent genotyping and cardiac magneti

57 All 5 patients (14%) with clinical ARVD/C diagnosis at last follow-up had an abnormal ECG o

58 In contrast, ARVD patients had major activation delay to the epicardi

59 c desmosomal mutation carriers with definite ARVD/C based on the 2010 diagnostic criteria served as a

60 rrier, whereas 1 had no previously described ARVD/C-related abnormality.

61 One third of family members developed ARVD/C.

62 m 64 families who were at risk of developing ARVD/C by virtue of their familial predisposition (72% m

63 , and regional RV dysfunction for diagnosing ARVD was 84%, 68%, and 78%, and specificity was 79%, 96%

64 ogy of atherosclerotic renovascular disease (ARVD) in dialysis populations are poorly defined.

65 Atherosclerotic renovascular disease (ARVD) is associated with heart disease.

66 This feature also best distinguished ARVD/C (diffuse and localized) from RVOT.

67 arrhythmogenic right ventricular dysplasia (ARVD) affected individuals.

68 arrhythmogenic right ventricular dysplasia (ARVD) and to determine sensitivity and specificity of fa

69 arrhythmogenic right ventricular dysplasia (ARVD) have been mapped.

70 Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by ri

71 arrhythmogenic right ventricular dysplasia (ARVD) is more successful when including epicardial ablat

72 Arrhythmogenic right-ventricular dysplasia (ARVD), a cardiomyopathy inherited as an autosomal-domina

73 Arrhythmogenic right ventricular dysplasia (ARVD), a familial cardiomyopathy occurring with a preval

74 arrhythmogenic right ventricular dysplasia (ARVD).

75 arrhythmogenic right ventricular dysplasia (ARVD).

76 arrhythmogenic right ventricular dysplasia (ARVD).

77 arrhythmogenic right ventricular dysplasia (ARVD).

78 arrhythmogenic right ventricular dysplasia (ARVD).

79 arrhythmogenic right ventricular dysplasia (ARVD).

80 h defined media, we established an efficient ARVD/C in vitro model within 2 months.

81 ricular tachycardia (VT) in six of the eight ARVD/C patients with delayed enhancement, compared with

82 Eighteen ARVD patients underwent detailed endocardial and epicard

83 k Force Criteria (TFC) and non-TFC features (ARVD/C-type pattern of fatty infiltration and/or nonisch

84 re (HF), and meeting diagnostic criteria for ARVD/C (2010 Revised Task Force Criteria [TFC]) was stud

85 more likely to meet Task Force Criteria for ARVD/C (40% versus 18%), experience sustained ventricula

86 The 2010 diagnostic criteria for ARVD/C have limited discrimination in distinguishing bet

87 s with definite 2010 diagnostic criteria for ARVD/C were subsequently diagnosed with CS.

88 30 patients met the Task Force criteria for ARVD/C.

89 sets obtained from 40 patients evaluated for ARVD.

90 ve patients were prospectively evaluated for ARVD/C.

91 e suggest that exercise is a risk factor for ARVD/C, there have been no systematic human studies.

92 global right ventricular [RV] function) for ARVD diagnosis is unknown.

93 c linkage excluded previously known loci for ARVD and identified a novel locus at 3p23.

94 Four loci for ARVD have been mapped in the Italian population, and rec

95 A novel locus for ARVD has been mapped to 3p23 and the region narrowed to

96 vely the diagnostic value of ECG markers for ARVD.

97 y criteria (minor = 1; major = 2) points for ARVD/C diagnosis.

98 he variant (Lys64Gln) is not responsible for ARVD in our family and is a benign polymorphism.

99 Thus, a novel gene responsible for ARVD resides on the short arm of chromosome 10.

100 NAPOR, neither of which was responsible for ARVD.

101 r outflow tract arrhythmias originating from ARVD/C compared with RVOT-VT patients.

102 age 27.0 +/- 15.3 years, 42% men) harboring ARVD/C-associated pathogenic mutations (83% plakophilin

103 hty-six adults enrolled in the Johns Hopkins ARVD Registry (38 male; mean age, 45.4+/-12.9 years), wi

104 ars, 11 male), enrolled in the Johns Hopkins ARVD registry, who underwent 1 or more RFA procedures fo

105 Among patients enrolled in the Johns Hopkins ARVD/C registry, 15 patients with definite 2010 diagnost

106 the preceding 2 years were used to identify ARVD and revascularization procedures.

107 In ARVD patients with complete RBBB, the most sensitive and

108 nd success of substrate-based VT ablation in ARVD.

109 ecede detectable structural abnormalities in ARVD/C mutation carriers.

110 e transmural right ventricular activation in ARVD patients and to compare this with reference patient

111 interval, 81% to 100%], respectively) and in ARVD patients with incomplete RBBB (73% [95% confidence

112 tion of RV myocardial fibro-fatty changes in ARVD/C is possible by MDE-MRI.

113 be used to characterize reentry circuits in ARVD.

114 Intramyocardial fat detection in ARVD was better with fast SE MR imaging alone and combin

115 was the most commonly enlarged dimension in ARVD probands (37.9 +/- 6.6 mm) versus control patients

116 Structural dysfunction in ARVD/C is progressive with substantial interpatient vari

117 ular enlargement and cardiac dysfunction, in ARVD/C are relatively scarce.

118 contained entirely within the epicardium in ARVD and explains observations on the need for direct ep

119 rough V3 is the most frequent ECG finding in ARVD/C and should be considered as a diagnostic ECG mark

120 associated with increased risk for firing in ARVD/C patients; odds ratio 11.2 (95% confidence interva

121 he mean difference in RV T(SV) was higher in ARVD/C compared with control subjects (55 +/- 34 ms vs.

122 e therapeutic and prognostic implications in ARVD/C.

123 risk factors determining ICD intervention in ARVD/C patients.

124 Despite a possible LV involvement in ARVD/C, the overall LV structure and function are well p

125 Presence of a PKP2 mutation in ARVD/C correlates with earlier onset of symptoms and arr

126 the clinical relevance of PKP2 mutations in ARVD/C.

127 Our study shows a high rate of recurrence in ARVD/C patients undergoing RFA of VT.

128 e integrity, and DSP abnormalities result in ARVD/C by cardiomyocyte death, changes in lipid metaboli

129 The rise in ARVD was not reflected in the proportion of patients wit

130 entions, and complications of ICD therapy in ARVD/C is lacking.

131 However, the role of these viruses in ARVD/C pathogenesis remains unknown.

132 Substrate-based ablation of VT in ARVD can achieve a good short-term success rate.

133 VT in ARVD has not been well characterized.

134 VT in ARVD shows many of the characteristics of VT due to myoc

135 ults concerning the efficacy of RFA of VT in ARVD/C patients.

136 iofrequency catheter ablation (RFA) of VT in ARVD/C, with particular focus on newer ablation strategi

137 d to define the precise role of RFA of VT in ARVD/C.

138 n) was found in all the affecteds in a large ARVD family.

139 ll as in those with familial and nonfamilial ARVD/C.

140 ng plakophilin-2, are found in 11% to 43% of ARVD/C probands.

141 An RV dyssynchrony may occur in up to 50% of ARVD/C patients, and is associated with RV remodeling.

142 ons in V1 through V3 were observed in 85% of ARVD/C patients in the absence of RBBB compared with non

143 structural, clinical, and genetic aspects of ARVD.

144 wide variation in presentation and course of ARVD patients, which can likely be explained by the gene

145 enetic characteristics and follow-up data of ARVD/C index-patients (n=439, fulfilling of 2010 criteri

146 nsitive characteristics for the detection of ARVD/C were a QRS duration in lead I of >/=120 ms (88% s

147 ons in DSG2 contribute to the development of ARVD/C.

148 The diagnosis of ARVD remains challenging.

149 The diagnosis of ARVD was based on international diagnostic criteria incl

150 Patients with a diagnosis of ARVD/C often receive an ICD for prevention of sudden car

151 Diagnosis of ARVD/C was based upon the Task Force criteria and did no

152 The diagnosis of ARVD/C was established based on task force criteria (TFC

153 tty changes consistent with the diagnosis of ARVD/C.

154 n is a promising tool for early diagnosis of ARVD/C.

155 being the first step, for ECG evaluation of ARVD patients.

156 Clinical features of ARVD/C were compared between 2 groups of patients: those

157 l features, survival, and natural history of ARVD in a large cohort of patients from the United State

158 er North American family with early onset of ARVD and high penetrance.

159 ine its possible role in the pathogenesis of ARVD, we determined the genomic organization of the huma

160 mma) activation underlie the pathogenesis of ARVD/C.

161 to reproduce the pathological phenotypes of ARVD/C in standard cardiogenic conditions.

162 0, p = 0.030) each predicted the presence of ARVD/C.

163 The median age at presentation of ARVD/C is 26 years.

164 The proportion of ARVD patients undergoing revascularization rose from 14.

165 2) testing strategy in at-risk relatives of ARVD/C patients.

166 of PKP2 mutations in another large series of ARVD/C patients and to examine the phenotypic characteri

167 Risk stratification of ARVD/C mutation carriers is challenging.

168 to investigate novel morphologic variants of ARVD/C.

169 Prior ARVD rose from 7.1% to 11.2% between 1996 and 2001 (adju

170 s Hopkins registry with definite or probable ARVD/C who underwent ICD implantation for primary preven

171 Two cadavers with proved ARVD were imaged with identical sequences with spectrall

172 Since ARVD involves the right ventricle, we sought candidate g

173 ion and diagnosis of patients with suspected ARVD/C.

174 This likely reflects the fact that ARVD/C is a diffuse cardiomyopathy with progressively ev

175 It has been speculated that ARVD/C is a sequela of viral myocarditis in some patient

176 additional mutations were included from the ARVD/C Genetic Variants Database.

177 e, and we also screened for mutations in the ARVD patients.

178 Finally, we screened the members of the ARVD family for mutations and identified two DNA sequenc

179 Chromosomal localization of the ARVD gene is the first step in identification of the gen

180 Nearly one-half of the ARVD/C patients with primary prevention ICD implantation

181 layed enhancement, compared with none of the ARVD/C patients without delayed enhancement (p=0.01).

182 agnostic criteria (TFC) from a transatlantic ARVD/C registry were retrospectively compared to assess

183 tcome was favorable in diagnosed and treated ARVD/C index-patients and family members.

184 ent in adult-like metabolic milieu underlies ARVD/C pathologies, enabling us to propose novel disease

185 These parameters should be measured when ARVD is suspected and compared with normal values.

186 very of desmosomal mutations associated with ARVD/C has led researchers to hypothesize equal right ve

187 somal protein plakophilin-2, associated with ARVD/C.

188 /- 8% vs. 34 +/- 8%, p = 0.03) compared with ARVD/C patients without RV dyssynchrony.

189 Fifteen patients were diagnosed with ARVD using Task Force criteria.

190 s in a group of North American families with ARVD/C have both reduced penetrance and variable express

191 living and 2 dead affected individuals, with ARVD segregating as an autosomal-dominant disorder.

192 entified a large family of >200 members with ARVD segregating as an autosomal dominant trait affectin

193 patients with CS who were misdiagnosed with ARVD/C and identify clinical features to distinguish the

194 METHODS AND One hundred patients with ARVD (57 men; aged 39+/-15 years) and 57 controls (21 me

195 Patients with ARVD (age 70.7 +/- 7.5 yr; estimated GFR 36 +/- 19 ml/mi

196 Eleven patients with ARVD and 10 control subjects underwent fast SE MR imagin

197 f a cross-sectional design, 79 patients with ARVD and 50 control patients without ARVD underwent echo

198 detected in eight of 11 (73%) patients with ARVD and in no control subjects (P <.001).

199 Patients with ARVD exhibit a high prevalence of cardiac morphologic an

200 Only 4 (5.1%) patients with ARVD had normal cardiac structure and function.

201 Mapping of 19 VTs in 5 patients with ARVD was performed.

202 Twenty-two patients with ARVD were studied.

203 Among the 100 patients with ARVD, a complete RBBB was present in 17 patients, and 15

204 For patients with ARVD, neither renal function nor renal artery patency pr

205 patient population included 50 patients with ARVD/C (27 males, 23 females; mean age 38+/-15 years).

206 lines from fibroblasts of two patients with ARVD/C and PKP2 mutations.

207 psychosocial adjustment among patients with ARVD/C and to determine risk factors for poor adjustment

208 Patients with ARVD/C are at elevated risk for anxiety, and young patie

209 ates after ICD implantation in patients with ARVD/C are low.

210 vailable echocardiograms of 85 patients with ARVD/C fulfilling 2010 Task Force diagnostic criteria (T

211 Patients with ARVD/C had elevated ICD-specific (Florida Shock Anxiety

212 n, 76.7+/-15.3) was normative, patients with ARVD/C had substantially elevated body image concerns (F

213 Patients with ARVD/C have a high arrhythmia rate requiring appropriate

214 more frequently identified in patients with ARVD/C than in control subjects.

215 Myocardial samples from 12 patients with ARVD/C were analyzed by polymerase chain reaction for th

216 Seventy-six patients with ARVD/C were enrolled from 2002 to 2012.

217 Eleven consecutive patients with ARVD/C were included in the study.

218 e study population included 87 patients with ARVD/C who underwent a total of 175 RFA procedures betwe

219 g outcome and complications in patients with ARVD/C who underwent ICD implantation.

220 ls a wider Epi VT substrate in patients with ARVD/C with clinical VTs.

221 Among the 85 patients with ARVD/C, mean (SD) age at baseline was 42.8 (14.4) years

222 lusion In this large cohort of patients with ARVD/C, non-TFC findings of ventricular fatty infiltrati

223 cardiographic (ECG) changes in patients with ARVD/C.

224 in 2), have been identified in patients with ARVD/C.

225 important in the management of patients with ARVD/C.

226 revent sudden cardiac death in patients with ARVD/C.

227 duction in the burden of VT in patients with ARVD/C.

228 cing structural progression in patients with ARVD/C.

229 Probands with ARVD have significant RA and RV enlargement and decrease

230 We identified four probands with ARVD/C caused by mutations in DSG2, which encodes desmog

231 ts with ARVD and 50 control patients without ARVD underwent echocardiography and 24-h ambulatory BP m

232 ed with none (0%) of the 18 patients without ARVD/C (p <0.001).

233 None of the patients without ARVD/C had any abnormalities either on histopathology or