Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 630
Filtrar
1.
BMC Med Genet ; 21(1): 19, 2020 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-32005173

RESUMO

BACKGROUND: Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (LMNA) genes are the two most significant contributors in familial DCM. Previously mutations in the desmoplakin (DSP) gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and more recently with DCM. METHODS: We describe the cardiac phenotype related to a DSP mutation which was identified in ten unrelated Finnish index patients using next-generation sequencing. Sanger sequencing was used to verify the presence of this DSP variant in the probands' relatives. Medical records were obtained, and clinical evaluation was performed. RESULTS: We identified DSP c.6310delA, p.(Thr2104Glnfs*12) variant in 17 individuals of which 11 (65%) fulfilled the DCM diagnostic criteria. This pathogenic variant presented with left ventricular dilatation, dysfunction and major ventricular arrhythmias. Two patients showed late gadolinium enhancement (LGE) and myocardial edema on cardiac magnetic resonance imaging (MRI) that may suggest inflammatory process at myocardium. CONCLUSIONS: The patients diagnosed with DCM showed an arrhythmogenic phenotype as well as SCD at young age supporting the recently proposed concept of arrhythmogenic cardiomyopathy. This study also demonstrates relatively low penetrance of truncating DSP variant in the probands' family members by the age of 40. Further studies are needed to elucidate the possible relations between myocardial inflammation and pathogenic DSP variants.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Cardiomiopatia Dilatada/genética , Desmoplaquinas/genética , Predisposição Genética para Doença , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Cardiomiopatia Dilatada/diagnóstico por imagem , Cardiomiopatia Dilatada/fisiopatologia , Meios de Contraste/administração & dosagem , Feminino , Gadolínio/administração & dosagem , Ventrículos do Coração/fisiopatologia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Penetrância , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/genética , Disfunção Ventricular Esquerda/fisiopatologia
3.
Int Heart J ; 61(1): 39-45, 2020 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-31956141

RESUMO

Patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and hypertrophic cardiomyopathy (HCM) implanted with implantable cardioverter-defibrillators (ICDs) may show a large decrease in R-wave amplitude during long-term follow-up. However, it is unclear whether this decrease is higher in these patients than in those without structural heart disease. This study investigated ICD-lead intracardiac parameters over a long duration in patients with ARVC and HCM and compared these parameters with those of a control group. We included 50 patients (mean age, 55.2 ± 17.2 years; 26% female) with ICD leads in the right ventricular apex, and compared 7 ARVC and 14 HCM patients with 29 control patients without structural heart disease. ICD-lead parameters, including R-wave amplitude, pacing threshold, and impedance during follow-up, were compared. The difference in these parameters between the time of implantation and year 5 were also compared. There were no significant differences in R-wave amplitude at implantation among the 3 groups. The change in R-wave amplitude between the time of implantation and year 5 was significantly greater in the ARVC group (-3.3 ± 5.4 mV, P = 0.012) in comparison to the control group (1.3 ± 2.8 mV); the HCM group showed no significant difference (-0.4 ± 2.3 mV, P = 0.06). Thus, in the ARVC group, R-wave amplitude at year 5 was significantly lower than that in the control group (5.7 ± 4.8 mV versus 12.5 ± 4.5 mV, P = 0.001). In ARVC patients with ICDs, ventricular sensing is likely to deteriorate during long-term follow-up; however, in HCM patients, sensing may not deteriorate.


Assuntos
Displasia Arritmogênica Ventricular Direita/terapia , Cardiomiopatia Hipertrófica/terapia , Ventrículos do Coração/fisiopatologia , Adolescente , Adulto , Idoso , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Cardiomiopatia Hipertrófica/fisiopatologia , Estudos de Casos e Controles , Desfibriladores Implantáveis , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
4.
J Cardiovasc Magn Reson ; 21(1): 76, 2019 12 12.
Artigo em Inglês | MEDLINE | ID: mdl-31831077

RESUMO

BACKGROUND: The Task Force Criteria (TFC) for arrhythmogenic right ventricular cardiomyopathy (ARVC) was updated in 2010 to improve specificity. There was concern however that the revised cardiovascular magnetic resonance (CMR) criteria was too restrictive and not sensitive enough to detect early forms of the condition. We previously described patients with clinically suspected ARVC who satisfied criteria from non-imaging TFC categories and fulfilled parameters from the original but not the revised CMR criteria; as a result, these patients were not confirmed as definite ARVC but may represent an early phenotype. METHODS: Patients scanned between 2008 and 2015 who had either right ventricular (RV) dilatation or regional dyskinesia satisfying at least minor imaging parameters from the original criteria and without contra-indication underwent serial CMR scanning using a 1.5 T scanner. The aims were to assess the risk of progressive RV abnormalities, evaluate the accuracy of the revised CMR criteria and the need for guideline directed CMR surveillance in at-risk individuals. RESULTS: Overall, 48 patients were re-scanned; 24 had a first-degree relative diagnosed with ARVC using the revised TFC or a first-degree relative with premature sudden death from suspected ARVC and 24 patients had either left bundle branch morphology ventricular tachycardia or > 500 ventricular extra-systoles in 24-h. Mean follow up was 69+/- 25 months. The indexed RV end-diastolic, end-systolic volumes and ejection fraction were calculated for both scans. There was significant reduction in RV volumes and improvement in RV ejection fraction (EF) irrespective of changes to body surface area; - 11.7+/- 15.2 mls/m2, - 6.4+/- 10.5 mls/m2 and + 3.3 +/- 7.9% (p = 0.01, 0.01 and 0.04). Applying the RV parameters to the revised CMR criteria, two patients from the family history group (one with confirmed ARVC and one with a premature death) had progressive RV abnormalities satisfying major criteria. The remaining patients (n = 46) did not satisfy the criteria and either had normal RV parameters with regression of structural abnormalities (27,56.3%) or stable abnormalities (19,43.7%). CONCLUSION: The revised CMR criteria represents a robust tool in the evaluation of patients with clinical suspicion of ARVC, especially for those with ventricular arrhythmias without a family history for ARVC. For patients with RV abnormalities that do not fulfill the revised criteria but have a family history of ARVC or an ARVC associated gene mutation, a surveillance CMR scan should be considered as part of the clinical follow up protocol.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Ventrículos do Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Disfunção Ventricular Direita/diagnóstico por imagem , Função Ventricular Direita , Adulto , Idoso , Displasia Arritmogênica Ventricular Direita/genética , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Progressão da Doença , Diagnóstico Precoce , Feminino , Seguimentos , Ventrículos do Coração/anormalidades , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Fatores de Tempo , Disfunção Ventricular Direita/genética , Disfunção Ventricular Direita/fisiopatologia , Adulto Jovem
5.
Anatol J Cardiol ; 22(2): 60-67, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31375646

RESUMO

OBJECTIVE: Arrhythmogenic right ventricular dysplasia (ARVD) is a myocardial genetic disease that occurs primarily in the right ventricle. Patients with ARVD may present with severe ventricular arrhythmias, syncope, and cardiac arrest. The purpose of this study is to evaluate the clinical features and arrhythmic complications of patients with pediatric-onset ARVD. METHODS: Patients diagnosed with ARVD between January 2010 and January 2019 were included in this study. RESULTS: A total of 19 patients with ARVD were evaluated. Of them, 15 patients were male, and their mean age was 12±4 years. The most common symptoms were palpitations (n=6), syncope (n=4), and heart failure symptoms (n=2). Five patients were asymptomatic. Thirteen patients had an epsilon wave; all patients ≥14 years had a T wave inversion in V1-3. Premature ventricular contractions (PVCs) were observed in 15 patients, and ventricular tachycardia (VT) was observed in 9 patients. All patients underwent cardiac magnetic resonance imaging (MRI). Echocardiography and cardiac MRI of two patients were normal at the time of admission; patients were in the concealed phase, and the diagnosis was made by ECG, Holter monitoring, and genetic findings. We administered a beta-blocker in all patients. Two patients underwent an electrophysiological study and ablation because of PVC/VT. An implantable cardiac defibrillator was implanted in 8 patients. The mean follow-up period was 21.5±11 months. Two patients were deceased with incessant VT and heart failure, and one patient was deceased with multiorgan dysfunction after biventricular assist device implantation (n=3). CONCLUSION: Diagnosis of pediatric-onset ARVD might be much more difficult in children. Sudden cardiac death might be prevented in the early period by raising the awareness of physicians about the disorder. Prevention of sudden death with implantable cardiac defibrillators is crucial in the management of these patients. It should be kept in mind that children with structurally normal hearts may present with an earlier concealed phase and can be diagnosed with ARVD.


Assuntos
Displasia Arritmogênica Ventricular Direita/fisiopatologia , Adolescente , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Displasia Arritmogênica Ventricular Direita/genética , Displasia Arritmogênica Ventricular Direita/terapia , Criança , Ecocardiografia , Eletrocardiografia , Teste de Esforço , Feminino , Seguimentos , Testes Genéticos , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino
6.
Cardiol Rev ; 27(4): 189-197, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31180938

RESUMO

Arrhythmogenic cardiomyopathy (AC) is a hereditary disorder characterized by degeneration of cardiac myocytes and their subsequent replacement by fat and fibrous tissue primarily in the right ventricle. Our study aimed to systematically evaluate the impact of significant demographic, clinical, electrocardiographic, and echocardiographic factors in arrhythmic events in AC patients. MEDLINE and Cochrane library databases were manually searched without year or language restriction or any other limits until July 31, 2017. A pooled odds ratio with 95% confidence intervals was calculated for each of the risk factors. Our search retrieved 26 studies (n = 2680 patients, mean age: 37.9 years old, males: 51.9%) which were included in the quantitative synthesis. The most reliable predicting factors/parameters are the following: (1) male gender, (2) presyncope, (3) left ventricular dysfunction, (4) T-wave inversions in inferior leads, (5) proband status, (6) late potentials, (7) syncope, (8) inducibility at electrophysiological study, (9) right ventricular dysfunction, (10) epsilon waves, and (11) premature ventricular contractions greater than 1000/24 h. On the contrary, family history of sudden cardiac death, palpitations, premature ventricular contractions greater than 500/24 h, and T-wave inversions in right precordial leads fail to determine the outcome in this meta-analysis. In conclusion, multiple risk factors have been associated with arrhythmic events in AC patients. However, larger studies are needed to discriminate those patients who will benefit from implantable cardioverter defibrillators.


Assuntos
Displasia Arritmogênica Ventricular Direita , Morte Súbita Cardíaca/etiologia , Eletrocardiografia , Estudos Observacionais como Assunto , Medição de Risco , Função Ventricular Direita/fisiologia , Displasia Arritmogênica Ventricular Direita/complicações , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Displasia Arritmogênica Ventricular Direita/terapia , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis , Saúde Global , Humanos , Incidência , Fatores de Risco
7.
Thromb Haemost ; 119(8): 1373-1378, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31183845

RESUMO

BACKGROUND: Thrombus formation within the left ventricle (LV) is a well-known clinical entity and is often associated with underlying myocardial disease, whereas right ventricular (RV) thrombi are rarely observed. This study aimed to investigate the clinical characteristics of patients with arrhythmogenic RV cardiomyopathy (ARVC) who developed an RV thrombus. METHODS AND RESULTS: This study included patients with an RV thrombus from the ARVC databases of the University Heart Center in Zurich, Switzerland, and the Fuwai Hospital in Beijing, China. In total, there were 13 ARVC patients who had an RV thrombus detected. The mean age was 33 ± 15 (range: 11-51) years. Eight patients (62%) were male. The mean Task Force score was 6 ± 1. Nine of these patients (69%) had an RV thrombus only whereas four patients had biventricular thrombi. All 13 ARVC patients had a severely impaired RV function (RV fractional area change 16 ± 9% and RV ejection fraction 15 ± 4%); LV ejection fraction (LVEF) was 40 ± 15%. ARVC patients with an additional LV thrombus had a lower LVEF than the others (24 ± 11 vs. 47 ± 11, p = 0.02). Under therapeutic anticoagulation, complete thrombus resolution was observed in 9/13 patients (69%). CONCLUSION: RV thrombus formation is a potential complication of ARVC with impaired RV function. In patients with biventricular involvement, thrombi may also occur within the LV. Anticoagulation is generally effective to dissolve RV thrombi. This study highlights the need for awareness during cardiac imaging to detect this rare complication of ARVC.


Assuntos
Displasia Arritmogênica Ventricular Direita/fisiopatologia , Cardiomiopatias/fisiopatologia , Trombose/fisiopatologia , Função Ventricular Direita/fisiologia , Adolescente , Adulto , Anticoagulantes/uso terapêutico , Arritmias Cardíacas/fisiopatologia , Displasia Arritmogênica Ventricular Direita/complicações , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico por imagem , Criança , China/epidemiologia , Feminino , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Suíça/epidemiologia , Trombose/complicações , Trombose/diagnóstico por imagem , Adulto Jovem
8.
Artif Organs ; 43(9): 909-912, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31066907

RESUMO

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disorder characterized by right ventricular enlargement, right heart failure (HF), and ventricular arrhythmias which lead to sudden death especially in young adults. Current recommendations for management of patients with ARVC are antiarrhythmic medications, catheter ablation, and implantable cardioverter defibrillator therapy to prevent sudden cardiac death. However, despite these treatments, few patients suffer from recurrent ventricular arrhythmias or HF unresponsive to conventional management. Heart transplantation (HTx) is a preferred treatment for these cases, but because of a persistent donor heart shortage in Japan, ventricular assist device (VAD) support has become an important option for a management of the end-stage ARVC. Previous articles reported 4 cases of a successful management by left ventricular assist device (LVAD), but the longest interval of LVAD support was only 333 days. We present 3 cases of ARVC patients who were successfully managed by LVAD implantation for more than a year. These 3 cases are unconventional examples of ARVC patients, considering the nature of the disease. The novelty of these cases should be taken in the context of the extremely long waiting period for HTx in Japan.


Assuntos
Displasia Arritmogênica Ventricular Direita/cirurgia , Ventrículos do Coração/cirurgia , Coração Auxiliar , Adulto , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Gerenciamento Clínico , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Implantação de Prótese
9.
Int J Cardiol ; 290: 100-105, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31104822

RESUMO

AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder associated with an increased risk of life-threatening arrhythmias in some patients. Risk stratification remains challenging. Therefore, we sought a non-invasive, easily applicable risk score to predict sustained ventricular arrhythmias in these patients. METHODS: Cohort of Patients who fulfilled the 2010 ARVC task force criteria were consecutively recruited. Detailed clinical data were collected at baseline and during follow up. The clinical endpoint was a composite of recurrent sustained ventricular arrhythmias and hospitalization due to ventricular arrhythmias. Multivariable logistic regression was used to develop models to predict the arrhythmic risk. A cohort including patients from other registries in UK, Canada and Switzerland was used as a validation population. RESULTS: One hundred and thirty-five patients were included of whom 35 patients (31.9%) reached the endpoint. A model consisting of filtered QRS duration on signal-averaged ECG, non-sustained VT (NSVT) on 24 h-ECG, and absence of negative T waves in lead aVR on 12­lead surface ECG was able to predict arrhythmic events with a sensitivity of 81.8%, specificity of 84.0% and a negative predictive value of 95.5% at the first presentation of the disease. This risk score was validated in international ARVC registry patients. CONCLUSION: A risk score consisting of a filtered QRS duration ≥117 ms, presence of NSVT on 24 h-ECG and absence of negative T waves in lead aVR was able to predict arrhythmic events at first presentation of the disease.


Assuntos
Arritmias Cardíacas/diagnóstico por imagem , Arritmias Cardíacas/fisiopatologia , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Adulto , Estudos de Coortes , Ecocardiografia/métodos , Eletrocardiografia/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco
10.
Anatol J Cardiol ; 21(4): 187-195, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30930451

RESUMO

OBJECTIVE: To control ventricular arrhythmia in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), ablation may be required both from the endocardial and epicardial side. In this study, we analyzed the results of contact force-sensing (CFS) catheters in the endo/epicardial ablation of ventricular arrhythmias in ARVD/C. METHODS: We included 17 patients with ARVD/C, 5 of whom had premature ventricular contractions (PVC), and the rest of them were admitted with a ventricular tachycardia (VT) storm, between September 2014 and October 2016. We divided patients into two groups: the PVC and VT groups. Irrigated CFS catheters (Smart Touch, Biosense Webster, Inc.) were utilized in all procedures. RESULTS: In the PVC group, the mean ratio of PVC during the 24-hour Holter monitoring was 31.8+-7.6%. The mean contact force during mapping and ablation in the right ventricle was 13+-1.2 and 12.8+-1.9 grams, respectively. The mean follow-up duration was 15+-3.1 months for the PVC group. The left ventricular ejection fraction improved in all patients (52.8+-10%). All patients in the VT group underwent endo/epicardial ablation, except one. The mean contact force during the endocardium and epicardium mapping was 12.5+-1.2 and 12.5+-4.6 grams, respectively. The mean contact force during ablation for the endocardium and epicardium was 12.1+-1.4 and 12.8+-1.9 grams, respectively. All clinical and non-clinical VTs were ablated successfully, except in 2 patients who still had non-clinical VTs. The mean follow-up was 15.5+-4.5 months. None of the VT patients experienced electrical storm or death. Two patients had single shock, and 1 patient had two shocks during the follow-up. CONCLUSION: Endo/epicardial ablation of ventricular arrhythmias with CFS catheters in ARVD/C seems to be promising.


Assuntos
Displasia Arritmogênica Ventricular Direita/cirurgia , Taquicardia Ventricular/cirurgia , Complexos Ventriculares Prematuros/cirurgia , Adulto , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Ablação por Cateter , Técnicas Eletrofisiológicas Cardíacas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Taquicardia Ventricular/fisiopatologia , Resultado do Tratamento , Complexos Ventriculares Prematuros/fisiopatologia , Adulto Jovem
11.
Circ Cardiovasc Imaging ; 12(4): e007693, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-31002275

RESUMO

BACKGROUND: The usefulness of echocardiographic indices, including those already used by modified Task Force Criteria (mTFC), and others such as strain imaging, to identify arrhythmogenic right ventricular cardiomyopathy (ARVC) in adolescence is not well established. METHODS: Echocardiograms from 120 adolescents investigated for ARVC (13±4 years) were retrospectively analyzed. According to the mTFC, patients were classified into definite (n=38), borderline (n=39), or possible (n=43) ARVC. Results were compared with 35 healthy controls. mTFC echocardiographic parameters were analyzed, as well as comprehensive right ventricular (RV) and left ventricular assessment of function including parameters not included in mTFC such as pulsed-wave tissue Doppler and RV 2-dimensional speckle strain. RESULTS: mTFC parameters indexed for body surface area were significantly more abnormal in patients with possible, borderline, or definite ARVC compared with controls for parasternal long-axis view of the RV outflow tract. RV end-diastolic diameters were significantly larger in patients versus controls, a difference that increased with likelihood of ARVC. Left ventricular ejection fraction, tricuspid annular peak systolic excursion, and systolic and diastolic pulsed-wave tissue Doppler imaging indices were similar to controls for all groups. Average and segmental RV peak longitudinal systolic strain was significantly lower in patients with definite ARVC (-21±4%) and disease subgroups versus controls (-25±3%). Multivariable risk analysis showed that reduced RV strain was significantly associated with ARVC diagnosis and its likelihood (multivariable odds ratio [95% CI]=1.23 [1.1-1.37]; P<0.001) as was increased end-diastolic diameter at the apical third of the RV (multivariable odds ratio [95% CI]=1.51 [1.33-1.72]; P<0.001). CONCLUSIONS: mTFC echocardiographic criteria are significantly different between patients and controls and between the different diagnostic groups. However, in our cohort, current echocardiographic mTFC are not met by the majority of adolescent ARVC patients, particularly when indexed to body surface area. Measurement of RV apical dimensions and strain may increase the diagnostic yield of echocardiography for ARVC.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Ecocardiografia Doppler de Pulso , Contração Miocárdica , Função Ventricular Direita , Remodelação Ventricular , Adolescente , Fatores Etários , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Criança , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos
12.
Monaldi Arch Chest Dis ; 89(1)2019 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-30968669

RESUMO

We reported a case of a young adult male aged 18 years admitted in our institution for syncope during a basketball match. No previous symptoms were reported. Electrocardiogram (ECG) showed T-wave inversion in the anterior leads and an incomplete right bundle branch block. Surprisingly, a complete echocardiographic evaluation demonstrated the presence of severe right ventricular enlargement with significant wall motion abnormalities, apical aneurysm and reduced systolic function. Cardiac Magnetic Resonance was pathognomonic for a fibro-fatty replacement of both ventricles. We decided for a subcutaneous defibrillator implantation and, after inducing a ventricular fibrillation to test the device status, epsilon wave appeared on the ECG. This clinical scenario depicted an advanced arrhythmogenic right ventricular cardiomyopathy at its first clinical manifestation.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Bloqueio de Ramo/diagnóstico , Desfibriladores Implantáveis , Ventrículos do Coração/fisiopatologia , Adolescente , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Displasia Arritmogênica Ventricular Direita/terapia , Ecocardiografia/métodos , Eletrocardiografia/métodos , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Síncope/etiologia
13.
Clin Res Cardiol ; 108(10): 1147-1162, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30868222

RESUMO

OBJECTIVES: As underlying heart diseases of right ventricular tachyarrhythmias, ARVC causes wall-motion abnormalities based on fibrofatty myocardial degeneration, while RVOT-VT and BrS are thought to lack phenotypic MR characteristics. To examine whether cardiac magnetic resonance (CMR) feature tracking (FT) in addition to ARVC objectively facilitates detection of myocardial functional impairments in RVOT-VT and BrS. METHODS: Cine MR datasets of four retrospectively enrolled, age-matched study groups [n = 65; 16 ARVC, 26 RVOT-VT, 9 BrS, 14 healthy volunteers (HV)] were independently assessed by two distinctly experienced investigators regarding myocardial function using CMR-FT. Global strain (%) and strainrate (s-1) in radial and longitudinal orientation were assessed at RVOT as well as for left (LV) and right (RV) ventricle at a basal, medial and apical section with the addition of a biventricular circumferential orientation. RESULTS: RV longitudinal and radial basal strain (%) in ARVC (- 12.9 ± 4.2; 11.4 ± 5.1) were significantly impaired compared to RVOT-VT (- 18.0 ± 2.5, p ≤ 0.005; 16.4 ± 5.2, p ≤ 0.05). Synergistically, RVOT endocardial radial strain (%) in ARVC (33.8 ± 22.7) was significantly lower (p ≤ 0.05) than in RVOT-VT (54.3 ± 14.5). For differentiation against BrS, RV basal and medial radial strain values (%) (13.3 ± 6.1; 11.8 ± 2.9) were significantly reduced when compared to HV (21.0 ± 6.9, p ≤ 0.05; 20.1 ± 6.6, p ≤ 0.005), even in case of a normal RV ejection fraction (EF) (> 45%; n = 6) (12.0 ± 2.7 vs. 20.1 ± 6.6, p ≤ 0.05). CONCLUSIONS: CMR-FT facilitates relevant differentiation in patients with right ventricular tachyarrhythmias: between ARVC against RVOT-VT and HV as well as between BrS with even a preserved EF against HV.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Síndrome de Brugada/diagnóstico , Eletrocardiografia/métodos , Ventrículos do Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética/métodos , Contração Miocárdica/fisiologia , Disfunção Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Síndrome de Brugada/fisiopatologia , Diagnóstico Diferencial , Feminino , Seguimentos , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Disfunção Ventricular Direita/fisiopatologia
14.
Heart Fail Rev ; 24(4): 511-520, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30852772

RESUMO

Right ventricular (RV) function has proven to be a prognostic factor in heart failure with reduced and preserved ejection fraction and in pulmonary hypertension. RV function is also a cornerstone in the management of novel clinical issues, such as mechanical circulatory support devices or grown-up congenital heart disease patients. Despite the notable amount of circumferentially oriented myofibers in the subepicardial layer of the RV myocardium, the non-longitudinal motion directions are often neglected in the everyday assessment of RV function by echocardiography. However, the complex RV contraction pattern incorporates different motion components along three anatomically relevant axes: longitudinal shortening with traction of the tricuspid annulus towards the apex, radial motion of free wall often referred as the "bellows effect", and anteroposterior shortening of the chamber by stretching the free wall over the septum. Advanced echocardiographic techniques, such as speckle-tracking and 3D echocardiography allow an in-depth characterization of RV mechanical pattern, providing better understanding of RV systolic and diastolic function. In our current review, we summarize the existing knowledge regarding RV mechanical adaptation to pressure- and/or volume-overloaded states and also other physiologic or pathologic conditions.


Assuntos
Disfunção Ventricular Direita/fisiopatologia , Função Ventricular Direita/fisiologia , Adaptação Fisiológica/fisiologia , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Cardiomegalia Induzida por Exercícios/fisiologia , Ecocardiografia Tridimensional , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/fisiopatologia , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/fisiopatologia , Ventrículos do Coração/diagnóstico por imagem , Humanos , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/fisiopatologia , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/etiologia
15.
Echocardiography ; 36(4): 666-670, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30883925

RESUMO

BACKGROUND: There are discrepancies in the quantitative echocardiographic criteria for the right ventricle (RV) between the revised task force criteria (TFC) for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) and the guidelines for RV assessment endorsed by American Society of Echocardiography (ASE). Importantly, these criteria do not take into account potential adaptation of the RV to exercise. The goal of this study was to compare the revised TFC quantitative echocardiographic parameters in patients with ARVC/D, athletes and matched controls. METHODS: Echocardiographic parameters of the RV were retrospectively collected in patients who fulfilled the TFC for ARVC/D, an age- matched, sex-matched, and body surface area-matched control population, and athletes (defined as individuals who exercised for more than 7 hours per week). Patients with structural heart disease were excluded in the control and athlete groups. RESULTS: Twenty patients with ARVC/D, 11 athletes and 20 matched controls were included. There was no significant difference between ARVC/D patients and athletes with the exception of the parasternal long axis right ventricular outflow tract diameter. All parameters were significantly different between ARVC/D patients and the control group. Furthermore, when subjects were categorized into meeting 1 major revised TFC/abnormal ASE criteria or not, only ASE criteria were able to differentiate ARVC/D from control population. Both were unable to differentiate ARVC/D from athletes. CONCLUSIONS: Right ventricle quantitative echocardiographic criteria in the revised TFC are not specific for ARVC/D. Care should be taken in applying these criteria in athletes.


Assuntos
Displasia Arritmogênica Ventricular Direita/complicações , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Atletas , Ecocardiografia/métodos , Disfunção Ventricular Direita/complicações , Disfunção Ventricular Direita/diagnóstico por imagem , Adulto , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Feminino , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Disfunção Ventricular Direita/fisiopatologia
16.
BMC Cardiovasc Disord ; 19(1): 41, 2019 02 19.
Artigo em Inglês | MEDLINE | ID: mdl-30782136

RESUMO

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized by fibrofatty replacement and ventricular arrhythmias. ARVC is believed to be a disease of the young, with most cases being diagnosed before the age of 40 years. We report here a case of newly diagnosed ARVC in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene (PKP2). CASE PRESENTATION: An 80-year-old Japanese man was referred for sustained ventricular tachycardia. His baseline electrocardiogram showed negative T waves in V1-V4. Right ventriculography showed right ventricular aneurysm. Because this case met three major criteria, ARVC was diagnosed. He was successfully treated with radiofrequency ablation and oral amiodarone. Genetic analysis identified an insertion mutation in exon 8 of PKP2 (1725_1728dupGATG), which caused a frameshift and premature termination of translation (R577DfsX5). CONCLUSIONS: To the best of our knowledge, this is the first report of newly diagnosed ARVC in an octogenarian associated with a loss-of-function PKP2 pathogenic variant. Although the late clinical presentation of ARVC is rare, it should be included in the differential diagnosis when treating older patients with ventricular tachyarrhythmias.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Mutação com Perda de Função , Placofilinas/genética , Idoso de 80 Anos ou mais , Amiodarona/administração & dosagem , Antiarrítmicos/administração & dosagem , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Displasia Arritmogênica Ventricular Direita/terapia , Ablação por Cateter , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Fatores de Risco , Resultado do Tratamento
17.
Circulation ; 139(15): 1786-1797, 2019 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-30700137

RESUMO

BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac death (SCD). Originally described as a right ventricular disease, ACM is increasingly recognized as a biventricular entity. We evaluated pathological, genetic, and clinical associations in a large SCD cohort. METHODS: We investigated 5205 consecutive cases of SCD referred to a national cardiac pathology center between 1994 and 2018. Hearts and tissue blocks were examined by expert cardiac pathologists. After comprehensive histological evaluation, 202 cases (4%) were diagnosed with ACM. Of these, 15 (7%) were diagnosed antemortem with dilated cardiomyopathy (n=8) or ACM (n=7). Previous symptoms, medical history, circumstances of death, and participation in competitive sport were recorded. Postmortem genetic testing was undertaken in 24 of 202 (12%). Rare genetic variants were classified according to American College of Medical Genetics and Genomics criteria. RESULTS: Of 202 ACM decedents (35.4±13.2 years; 82% male), no previous cardiac symptoms were reported in 157 (78%). Forty-one decedents (41/202; 20%) had been participants in competitive sport. The adjusted odds of dying during physical exertion were higher in men than in women (odds ratio, 4.58; 95% CI, 1.54-13.68; P=0.006) and in competitive athletes in comparison with nonathletes (odds ratio, 16.62; 95% CI, 5.39-51.24; P<0.001). None of the decedents with an antemortem diagnosis of dilated cardiomyopathy fulfilled definite 2010 Task Force criteria. The macroscopic appearance of the heart was normal in 40 of 202 (20%) cases. There was left ventricular histopathologic involvement in 176 of 202 (87%). Isolated right ventricular disease was seen in 13%, isolated left ventricular disease in 17%, and biventricular involvement in 70%. Among whole hearts, the most common areas of fibrofatty infiltration were the left ventricular posterobasal (68%) and anterolateral walls (58%). Postmortem genetic testing yielded pathogenic variants in ACM-related genes in 6 of 24 (25%) decedents. CONCLUSIONS: SCD attributable to ACM affects men predominantly, most commonly occurring during exertion in athletic individuals in the absence of previous reported cardiac symptoms. Left ventricular involvement is observed in the vast majority of SCD cases diagnosed with ACM at autopsy. Current Task Force criteria may fail to diagnose biventricular ACM before death.


Assuntos
Displasia Arritmogênica Ventricular Direita/mortalidade , Morte Súbita Cardíaca/etiologia , Ventrículos do Coração/patologia , Disfunção Ventricular Esquerda/mortalidade , Adulto , Displasia Arritmogênica Ventricular Direita/genética , Displasia Arritmogênica Ventricular Direita/patologia , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Causas de Morte , Morte Súbita Cardíaca/patologia , Feminino , Predisposição Genética para Doença , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Disfunção Ventricular Esquerda/genética , Disfunção Ventricular Esquerda/patologia , Disfunção Ventricular Esquerda/fisiopatologia , Função Ventricular Esquerda , Adulto Jovem
18.
Arq Bras Cardiol ; 112(1): 91-103, 2019 01.
Artigo em Inglês, Português | MEDLINE | ID: mdl-30673021

RESUMO

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) was initially recognized as a clinical entity by Fontaine and Marcus, who evaluated a group of patients with ventricular tachyarrhythmia from a structurally impaired right ventricle (RV). Since then, there have been significant advances in the understanding of the pathophysiology, manifestation and clinical progression, and prognosis of the pathology. The identification of genetic mutations impairing cardiac desmosomes led to the inclusion of this entity in the classification of cardiomyopathies. Classically, ARVC/D is an inherited disease characterized by ventricular arrhythmias, right and / or left ventricular dysfunction; and fibro-fatty substitution of cardiomyocytes; its identification can often be challenging, due to heterogeneous clinical presentation, highly variable intra- and inter-family expressiveness, and incomplete penetrance. In the absence of a gold standard that allows the diagnosis of ARVC/D, several diagnostic categories were combined and recently reviewed for a higher diagnostic sensitivity, without compromising the specificity. The finding that electrical abnormalities, particularly ventricular arrhythmias, usually precede structural abnormalities is extremely important for risk stratification in positive genetic members. Among the complementary exams, cardiac magnetic resonance imaging (CMR) allows the early diagnosis of left ventricular impairment, even before morpho-functional abnormalities. Risk stratification remains a major clinical challenge, and antiarrhythmic drugs, catheter ablation and implantable cardioverter defibrillator are the currently available therapeutic tools. The disqualification of the sport prevents cases of sudden death because the effort can trigger not only the electrical instability, but also the onset and progression of the disease.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/terapia , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Mapeamento Potencial de Superfície Corporal/métodos , Desfibriladores Implantáveis , Eletrocardiografia , Humanos , Imagem por Ressonância Magnética/métodos , Medição de Risco , Fatores de Risco
19.
Int J Cardiol ; 279: 79-83, 2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-30638987

RESUMO

BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inheritable progressive heart disease with high risk of life-threatening ventricular arrhythmia (VA). We aimed to explore the prevalence of VA as presenting event in patients with AC over two decades, symptoms preceding VA and compare the clinical presentations and rate of AC-diagnosis over time. METHODS: We included consecutive AC-patients from our tertiary referral center. We recorded clinical history, VA (aborted cardiac arrest, sustained ventricular tachycardia or appropriate implantable cardioverter-defibrillator therapy), cardiac symptoms preceding VA in AC, and compared the history of patients diagnosed before and after implementation of genetic testing. RESULTS: We included 179 consecutive AC-patients and mutation-positive family members (95 [53%] probands, 84 [45%] female, 49 ±â€¯17 years), 33 (18%) diagnosed before and 146 (82%) after genetic testing became available. VA led to the AC-diagnosis in 46 (26%), and was less prevalent after implementation of genetic testing (17[52%] vs. 29[20%], p < 0.001), also when adjusted for proband status (Adjusted OR 2.7, 95% CI 1.1-6.7, p = 0.03). Yearly rate of AC-diagnosis increased after implementation of genetic testing in probands (2.7 ±â€¯1.3 vs. 6.8 ±â€¯4.3, p = 0.01) and family members (0.7 ±â€¯1.1 vs. 7.7 ±â€¯5.9, p = 0.002). Most patients with VA (92%) reported cardiac symptoms prior to event, and exercise-induced syncope was the strongest marker of subsequent VA (Adjusted OR 5.3, 95% CI 1.7-16.4, p = 0.004). CONCLUSION: VA led to AC-diagnosis in 46% of probands and was preceded by cardiac symptoms in the majority of cases. Yearly rate of AC-diagnoses increased after the implementation of genetic testing and life-threatening presentation of AC-disease seemed to decrease.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Testes Genéticos/tendências , Genômica/tendências , Centros de Atenção Terciária/tendências , Fibrilação Ventricular/genética , Adulto , Idoso , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Estudos de Coortes , Estudos Transversais , Feminino , Testes Genéticos/métodos , Genômica/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Estudos Retrospectivos , Fatores de Tempo , Fibrilação Ventricular/diagnóstico , Fibrilação Ventricular/fisiopatologia
20.
Int J Cardiol ; 280: 74-79, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30661851

RESUMO

BACKGROUND: Despite expanding indication of the subcutaneous implantable cardioverter defibrillator (S-ICD) in clinical practice, limited data exists on safety and efficacy of S-ICD in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. The aim of this multicenter study was to evaluate the safety and efficacy of S-ICD in ARVC patients. METHODS: The study population included 44 consecutive patients with definite ARVC diagnosis according to the 2010 ITF criteria (57% male, mean age 37 ±â€¯17 years [range 10-75 years]) who received an S-ICD. Eighteen (41%) patients were implanted for secondary prevention. RESULTS: At implant, all inducible patients (34/44) had conversion of ventricular fibrillation at 65 J. No early complications occurred. During a median follow-up of 12 months (7-19), 3 (6.8%) patients experienced complications requiring surgical revision. No local or systemic device-related infections were observed. Six patients (14%) received a total of 61 appropriate and successful shocks on ventricular arrhythmias. Six (14%) patients experienced 8 inappropriate shocks for oversensing of cardiac signal (4 cases) and non-cardiac signal (4 cases) with one patient requiring device explantation. No patients had the device explanted due to the need for antitachycardia pacing. CONCLUSIONS: The study shows that S-ICD provides safe and effective therapy for termination of both induced and spontaneous malignant ventricular tachyarrhythmias with high energy shocks in ARVC patients, but the risk of inappropriate shocks and complications needing surgical revision should be considered.


Assuntos
Displasia Arritmogênica Ventricular Direita/fisiopatologia , Displasia Arritmogênica Ventricular Direita/terapia , Desfibriladores Implantáveis , Sistema de Registros , Tela Subcutânea , Adolescente , Adulto , Idoso , Displasia Arritmogênica Ventricular Direita/diagnóstico , Criança , Desfibriladores Implantáveis/tendências , Eletrocardiografia/métodos , Eletrocardiografia/tendências , Feminino , Seguimentos , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA