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AIMS: Desmoplakin (DSP) cardiomyopathy is an increasingly recognized form of arrhythmogenic cardiomyopathy. With a genotype-specific approach, we characterized the diagnosis, natural history, and risk for ventricular arrhythmia and heart failure in DSP cardiomyopathy. METHODS AND RESULTS: We followed 91 individuals [45 probands, 34% male, median age 27.5 years (interquartile interval 20.0-43.9)] with pathogenic or likely pathogenic DSP variants for a median of 4.3 years. Regarding the ventricular involvement, left predominance was most common (n = 22, 28%) followed by bi-ventricular in 12 (15%) and right predominance in 5 (6%). Myocardial injury (chest pain, elevated troponin, normal coronary angiogram) occurred in 20 (22%) individuals. Incidence rates of sustained ventricular arrhythmia and heart failure (ventricular dysfunction ± symptoms) were 5.9 [95% confidence interval (CI): 3.9-9.1] and 6.7 (95% CI: 4.5-9.8) per 100 person-years, respectively. In univariate regression, myocardial injury was associated with sustained ventricular arrhythmia [hazard ratio (HR) 2.53, 95% CI: 1.05-6.11] and heart failure (HR 7.53, 95% CI: 3.10-18.26). After adjustment, left ventricular ejection fraction <35% and right ventricular dysfunction were prognostic for sustained ventricular arrhythmia while proband status and myocardial injury were prognostic for heart failure (all P < 0.05). The sensitivity of the arrhythmogenic right ventricular cardiomyopathy Task Force Criteria in diagnosing left dominant disease was 0.73; 5/22 (23%) of patients with sustained ventricular arrhythmias did not meet these criteria. CONCLUSION: DSP cardiomyopathy affects both ventricles and carries high risk for ventricular arrhythmia and heart failure. Myocardial injury is associated with worse disease outcomes. Both diagnosis and risk stratification of DSP cardiomyopathy need refinement.
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Displasia Ventricular Derecha Arritmogénica , Cardiomiopatías , Adulto , Displasia Ventricular Derecha Arritmogénica/diagnóstico , Displasia Ventricular Derecha Arritmogénica/epidemiología , Displasia Ventricular Derecha Arritmogénica/genética , Cardiomiopatías/diagnóstico , Cardiomiopatías/epidemiología , Desmoplaquinas/genética , Femenino , Humanos , Masculino , Medición de Riesgo , Volumen Sistólico , Función Ventricular IzquierdaRESUMEN
Erdheim-Chester disease (ECD) is an extremely rare and aggressive non-Langerhans histiocytic disorder. ECD typically presents with bone pain in middle-aged adults, although some patients present with multisystem disease involving the skeleton, central nervous system, cardiovascular system, lungs, and other disease sites. The etiology of ECD is currently unknown, but it is thought to be a reactive or neoplastic disorder. Recently, mutation of the BRAF gene has been found in >50% of ECD cases, and this gene has become a therapeutic target for patients with ECD. Vemurafenib, a BRAF inhibitor, has been approved by the FDA for treatment of ECD. This report presents an elderly male patient with an aggressive phenotype of ECD and highlights the utility of multimodality imaging in monitoring the clinical course and disease response to treatment with vemurafenib.
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Antineoplásicos/uso terapéutico , Enfermedad de Erdheim-Chester/diagnóstico por imagen , Enfermedad de Erdheim-Chester/tratamiento farmacológico , Imagen Multimodal/métodos , Proteínas Proto-Oncogénicas B-raf/metabolismo , Vemurafenib/uso terapéutico , Antineoplásicos/farmacología , Enfermedad de Erdheim-Chester/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vemurafenib/farmacologíaRESUMEN
Since the inception of the Medicare End Stage Renal Disease Program in 1972, the medical director has been an important leader in the dialysis unit. The initial duties of the medical director were focused on quality and safety but were gradually expanded over the decades to include the development and oversight of protocols to manage metabolic bone disease and anemia. As the total cost of ESRD care has escalated, there have been progressive attempts to control costs through additional bundling and the creation of alternative payment schemes. While we await the financial and clinical outcomes of these initiatives, the medical director's role continues to expand in scope and now includes an enhanced role for not only clinical outcomes but financial outcomes as well.
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Unidades de Hemodiálisis en Hospital/organización & administración , Fallo Renal Crónico/economía , Medicare/economía , Ejecutivos Médicos , Garantía de la Calidad de Atención de Salud , Femenino , Humanos , Fallo Renal Crónico/terapia , Masculino , Estados UnidosRESUMEN
High hemodialysis ultrafiltration rate (UFR) is increasingly recognized as an important and modifiable risk factor for mortality among patients receiving maintenance hemodialysis. Recently, the Kidney Care Quality Alliance (KCQA) developed a UFR measure to assess dialysis unit care quality. The UFR measure was defined as UFR≥13mL/kg/h for patients with dialysis session length less than 240 minutes and was endorsed by the National Quality Forum as a quality measure in December 2015. Despite this, implementation of a UFR threshold remains controversial. In this NKF-KDOQI (National Kidney Foundation-Kidney Disease Outcomes Quality Initiative) Controversies Report, we discuss the concept of the UFR, which is governed by patients' interdialytic weight gain, body weight, and dialysis treatment time. We also examine the potential benefits and pitfalls of adopting a UFR threshold as a clinical performance measure and outline several aspects of UFR thresholds that require further research.
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Fallo Renal Crónico/terapia , Diálisis Renal , Insuficiencia Cardíaca/etiología , Humanos , Hipertensión/etiología , Guías de Práctica Clínica como Asunto , Diálisis Renal/efectos adversos , Diálisis Renal/métodos , Ultrafiltración/estadística & datos numéricosRESUMEN
Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis. Recent findings suggest that ECD is a clonal disorder, marked by recurrent BRAFV600E mutations in >50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Although â¼500 to 550 cases have been described in the literature to date, increased physician awareness has driven a dramatic increase in ECD diagnoses over the last decade. ECD frequently involves multiple organ systems and has historically lacked effective therapies. Given the protean clinical manifestations and the lack of a consensus-derived approach for the management of ECD, we provide here the first multidisciplinary consensus guidelines for the clinical management of ECD. These recommendations were outlined at the First International Medical Symposium for ECD, comprised of a comprehensive group of international academicians with expertise in the pathophysiology and therapy of ECD. Detailed recommendations on the initial clinical, laboratory, and radiographic assessment of ECD patients are presented in addition to treatment recommendations based on critical appraisal of the literature and clinical experience. These formalized consensus descriptions will hopefully facilitate ongoing and future research efforts in this disorder.
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Consenso , Enfermedad de Erdheim-Chester/diagnóstico , Enfermedad de Erdheim-Chester/terapia , HumanosAsunto(s)
Huesos/patología , Enfermedad de Erdheim-Chester/diagnóstico , Fatiga/etiología , Anciano , Encéfalo/patología , Trastornos del Conocimiento/etiología , Diagnóstico Tardío , Diagnóstico Diferencial , Enfermedad de Erdheim-Chester/complicaciones , Enfermedad de Erdheim-Chester/tratamiento farmacológico , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación , Derrame Pericárdico/diagnóstico por imagen , Derrame Pericárdico/etiología , Proteínas Proto-Oncogénicas B-raf/antagonistas & inhibidores , Proteínas Proto-Oncogénicas B-raf/genética , Radiografía Abdominal , Ultrasonografía , Pérdida de PesoRESUMEN
Traditional cardiomyopathy paradigms segregate inflammatory etiologies from those caused by genetic variants. An identified or presumed trigger is implicated in acute myocarditis or chronic inflammatory cardiomyopathy but growing evidence suggests a significant proportion of patients have an underlying cardiomyopathy-associated genetic variant often even when a clear inflammatory trigger is identified. Recognizing a possible genetic contribution to inflammatory cardiomyopathy may have major downstream implications for both the patient and family. The presenting features of myocarditis (i.e. chest pain, arrhythmia, and/or heart failure) may provide insight into diagnostic considerations. One example is isolated cardiac sarcoidosis, a distinct inflammatory cardiomyopathy that carries diagnostic challenges and clinical overlap; genetic testing has increasingly reclassified cases of isolated cardiac sarcoidosis as genetic cardiomyopathy, notably altering management. On the other side, inflammatory presentations of genetic cardiomyopathies are likewise underappreciated and a growing area of investigation. Inflammation plays an important role in the pathogenesis of several familial cardiomyopathies, especially arrhythmogenic phenotypes. Given these clinical scenarios, and the implications on clinical decision making such as initiation of immunosuppression, sudden cardiac death prevention, and family screening, it is important to recognize when genetics may be playing a role.
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Cardiomiopatías , Miocarditis , Sarcoidosis , Humanos , Miocarditis/diagnóstico , Miocarditis/genética , Miocarditis/complicaciones , Cardiomiopatías/diagnóstico , Cardiomiopatías/genética , Cardiomiopatías/patología , Arritmias Cardíacas/etiología , Muerte Súbita Cardíaca/etiología , Sarcoidosis/diagnóstico , Sarcoidosis/genéticaRESUMEN
Although most patients with cardiac amyloidosis are diagnosed with either light chain (AL) or transthyretin (ATTR) disease, coexisting amyloid subtypes can occur. We present three cases of coexisting AL and ATTR cardiac amyloidosis and demonstrate the importance of clinical history and endomyocardial biopsy in diagnosis of this rare entity.
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BACKGROUND: Detecting right heart failure post left ventricular assist device (LVAD) is challenging. Sensitive pressure-volume loop assessments of right ventricle (RV) contractility may improve our appreciation of post-LVAD RV dysfunction. METHODS: Thirteen LVAD patients and 20 reference (non-LVAD) subjects underwent comparison of echocardiographic, right heart cath hemodynamic, and pressure-volume loop-derived assessments of RV contractility using end-systolic elastance (Ees), RV afterload by effective arterial elastance (Ea), and RV-pulmonary arterial coupling (ratio of Ees/Ea). RESULTS: LVAD patients had lower RV Ees (0.20 ± 0.08 vs 0.30 ± 0.15 mm Hg/ml, p = 0.01) and lower RV Ees/Ea (0.37 ± 0.14 vs 1.20 ± 0.54, p < 0.001) versus reference subjects. Low RV Ees correlated with reduced RV septal strain, an indicator of septal contractility, in both the entire cohort (r = 0.68, p = 0.004) as well as the LVAD cohort itself (r = 0.78, p = 0.02). LVAD recipients with low RV Ees/Ea (below the median value) demonstrated more clinical heart failure (71% vs 17%, p = 0.048), driven by an inability to augment RV Ees (0.22 ± 0.11 vs 0.19 ± 0.02 mm Hg/ml, p = 0.95) to accommodate higher RV Ea (0.82 ± 0.38 vs 0.39 ± 0.08 mm Hg/ml, p = 0.002). Pulmonary artery pulsatility index (PAPi) best identified low baseline RV Ees/Ea (≤0.35) in LVAD patients ((area under the curve) AUC = 0.80); during the ramp study, change in PAPi also correlated with change in RV Ees/Ea (r = 0.58, p = 0.04). CONCLUSIONS: LVAD patients demonstrate occult intrinsic RV dysfunction. In the setting of excess RV afterload, LVAD patients lack the RV contractile reserve to maintain ventriculo-vascular coupling. Depression in RV contractility may be related to LVAD left ventricular unloading, which reduces septal contractility.
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Insuficiencia Cardíaca , Corazón Auxiliar , Disfunción Ventricular Derecha , Humanos , Ventrículos Cardíacos/diagnóstico por imagen , Arteria Pulmonar , Insuficiencia Cardíaca/cirugía , Función Ventricular DerechaRESUMEN
Improved disease recognition through family screening and increased life expectancy with appropriate sudden cardiac death prevention has increased the burden of heart failure in arrhythmogenic cardiomyopathy (ACM). Heart failure management guidelines are well established but primarily focus on left ventricle function. A significant proportion of patients with ACM have predominant or isolated right ventricle (RV) dysfunction. Management of RV dysfunction in ACM lacks evidence but requires special considerations across the spectrum of heart failure regarding the initial diagnosis, subsequent management, monitoring for progression, and end-stage disease management. In this review, we discuss the unique aspects of heart failure management in ACM with a special focus on RV dysfunction.
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Late right heart failure (LRHF) following left ventricular assist device (LVAD) implantation remains poorly characterized and challenging to predict. We performed a multicenter retrospective study of LRHF in 237 consecutive adult LVAD patients, in which LRHF was defined according to the 2020 Mechanical Circulatory Support Academic Research Consortium guidelines. Clinical and hemodynamic variables were assessed pre- and post-implant. Competing-risk regression and Kaplan-Meier survival analysis were used to assess outcomes. LRHF prediction was assessed using multivariable logistic and Cox proportional hazards regression. Among 237 LVAD patients, 45 (19%) developed LRHF at a median of 133 days post-LVAD. LRHF patients had more frequent heart failure hospitalizations ( p < 0.001) alongside other complications. LRHF patients did not experience reduced bridge-to-transplant rates but did suffer increased mortality (hazard ratio 1.95, 95% confidence interval [CI] 1.11-3.42; p = 0.02). Hemodynamically, LRHF patients demonstrated higher right atrial pressure, mean pulmonary arterial pressure, and pulmonary vascular resistance (PVR), but no difference in pulmonary arterial wedge pressure. History of early right heart failure, blood urea nitrogen (BUN) > 35 mg/dl at 1 month post-LVAD, and diuretic requirements at 1 month post-LVAD were each significant, independent predictors of LRHF in multivariable analysis. An LRHF prediction risk score incorporating these variables predicted LRHF with excellent discrimination (log-rank p < 0.0001). Overall, LRHF post-LVAD is more common than generally appreciated, with significant morbidity and mortality. Elevated PVR and precapillary pulmonary pressures may play a role. A risk score using early right heart failure, elevated BUN, and diuretic requirements 1 month post implant predicted the development of LRHF.
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Insuficiencia Cardíaca , Corazón Auxiliar , Disfunción Ventricular Derecha , Adulto , Humanos , Corazón Auxiliar/efectos adversos , Estudios Retrospectivos , Insuficiencia Cardíaca/complicaciones , Presión Esfenoidal Pulmonar , Factores de Riesgo , Resultado del TratamientoRESUMEN
BACKGROUND: Small series and case reports suggest that a combination of mycophenolate mofetil and prednisone is an efficatious and safe treatment for patients with retroperitoneal fibrosis. OBJECTIVE: To describe the outcomes of patients with retroperitoneal fibrosis treated with a combination of prednisone and mycophenolate mofetil. DESIGN: Prospective, case series. PATIENTS: 31 patients with retroperitoneal fibrosis. SETTING: Single-center tertiary care facility. INTERVENTION: Prednisone 40 mg administered daily and tapered over 6 months and mycophenolate mofetil 1,000 mg given twice daily. MEASUREMENT: Clinical course, laboratory assessment, measurement of periaortic mass. RESULTS: Systemic symptoms resolved in all patients. Eighty-nine percent of patients had a 25% or greater reduction in periaortic mass. Eighteen patients had 32 obstructed ureters. Thirty of these ureters were free of obstruction after an average of 513 days of therapy. Laboratory abnormalities of elevated erythrocyte sedimentation rate and serum creatinine and decreased hemoglobin levels normalized in all patients. Recurrent disease occurred in 2 of 28 patients. CONCLUSION: Combined prednisone and mycophenolate mofetil appears to be an effective therapeutic option for patients with retroperitoneal fibrosis.
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Antiinflamatorios/uso terapéutico , Manejo de la Enfermedad , Ácido Micofenólico/análogos & derivados , Prednisona/uso terapéutico , Fibrosis Retroperitoneal/tratamiento farmacológico , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades de la Aorta/tratamiento farmacológico , Relación Dosis-Respuesta a Droga , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Ácido Micofenólico/uso terapéutico , Estudios Prospectivos , Estudios Retrospectivos , Centros de Atención Terciaria , Resultado del Tratamiento , Obstrucción Ureteral/tratamiento farmacológicoRESUMEN
BACKGROUND: Small case series suggest that a combination of mycophenolate mofetil and prednisone may be an effective treatment for patients with retroperitoneal fibrosis. OBJECTIVE: To describe the outcomes of adults with retroperitoneal fibrosis who received a combination of prednisone and mycophenolate mofetil. DESIGN: Prospective case series of patients followed between 1 April 2005 and 1 July 2009. SETTING: Single tertiary care facility. PATIENTS: 28 patients with retroperitoneal fibrosis. INTERVENTION: Prednisone, 40 mg/d, tapered over 6 months, and mycophenolate mofetil, 1000 mg twice daily, for a mean of 24.3 months. MEASUREMENTS: Clinical course, laboratory assessment, and measurement of periaortic mass. Mean follow-up was 1012 days, and no patients were lost to follow-up. RESULTS: Systemic symptoms resolved in all patients; 89% had a 25% or greater reduction in periaortic mass. Elevated erythrocyte sedimentation rate and serum creatinine level and decreased hemoglobin level normalized in all patients. Disease recurred in 2 of 28 patients. LIMITATION: This was a small case series. CONCLUSION: Combined prednisone and mycophenolate mofetil therapy is a potentially effective treatment for retroperitoneal fibrosis that warrants evaluation in randomized trials. PRIMARY FUNDING SOURCE: None.
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Antiinflamatorios/uso terapéutico , Inmunosupresores/uso terapéutico , Ácido Micofenólico/análogos & derivados , Prednisona/uso terapéutico , Fibrosis Retroperitoneal/tratamiento farmacológico , Adulto , Anciano , Quimioterapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ácido Micofenólico/uso terapéutico , Estudios Prospectivos , Fibrosis Retroperitoneal/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy resulting from deposition of misfolded immunoglobulin light chains (AL-CA) or transthyretin (ATTR-CA) proteins in the myocardium. Survival varies between the different subtypes of amyloidosis and degree of cardiac involvement, but accurate diagnosis is essential to ensure initiation of therapeutic interventions that may slow or potentially prevent morbidity and mortality in these patients. As there are now effective treatment options for CA, identifying underlying disease pathogenesis is crucial and can be guided by multimodality imaging techniques such as echocardiography, magnetic resonance imaging, and nuclear scanning modalities. However, as use of cardiac imaging is becoming more widespread, understanding optimal applications and potential shortcomings is increasingly important. Additionally, certain imaging modalities can provide prognostic information and may affect treatment planning. In patients whom imaging remains non-diagnostic, tissue biopsy, specifically endomyocardial biopsy, continues to play an essential role and can facilitate accurate and timely diagnosis such that appropriate treatment can be started. In this review, we examine the multimodality imaging approach to the diagnosis of CA with particular emphasis on the prognostic utility and limitations of each imaging modality. We also discuss how imaging can guide the decision to pursue tissue biopsy for timely diagnosis of CA.
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AIMS: Heart failure is an increasingly recognized later stage manifestation of arrhythmogenic right ventricular cardiomyopathy (ARVC) that can require heart transplantation (HT) to appropriately treat. We aimed to study contemporary ARVC HT outcomes in a national registry. METHODS AND RESULTS: The United Network for Organ Sharing registry was queried for HT recipients from 1/1994 through 2/2020. ARVC patients were compared with non-ARVC dilated, restrictive, and hypertrophic cardiomyopathy HT patients (HT for ischaemic and valvular disease was excluded from analysis). Post-HT survival was assessed using Kaplan-Meier estimates. A total of 189 of 252 (75%) waitlisted ARVC patients (median age 48 years, 65% male) underwent HT, representing 0.3% of the total 65 559 HT during the study time period. Annual frequency of HT for ARVC increased significantly over time. ARVC patients had less diabetes (5% vs. 17%, P < 0.001), less cigarette use (15% vs. 23%, P < 0.001), lower pulmonary artery and pulmonary capillary wedge pressures, and lower cardiac output than the 33 659 non-ARVC patients (P < 0.001). Ventricular assist device use was significantly lower in ARVC patients (8% vs. 32%, P < 0.001); 1 and 5 year post-HT survival was 97% and 93% for ARVC vs. 95% and 82% for non-ARVC HT recipients (P < 0.001). On adjusted multivariable Cox regression, ARVC had decreased risk of post-HT death compared with non-ARVC aetiologies (hazard ratio 0.48, 95% confidence interval 0.28-0.82, P = 0.008). Patients with ARVC also had lower risk of death or graft failure than non-ARVC patients (hazard ratio 0.51, 95% confidence interval 0.32-0.81, P = 0.004). CONCLUSIONS: In the largest series of HT in ARVC, we found that HT is increasingly performed in ARVC, with higher survival compared with other cardiomyopathy aetiologies. The right ventricular predominant pathophysiology may require unique considerations for heart failure management, including HT.
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Displasia Ventricular Derecha Arritmogénica , Trasplante de Corazón , Displasia Ventricular Derecha Arritmogénica/complicaciones , Displasia Ventricular Derecha Arritmogénica/cirugía , Femenino , Insuficiencia Cardíaca/etiología , Insuficiencia Cardíaca/cirugía , Humanos , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Sistema de Registros , Resultado del TratamientoRESUMEN
AIMS: End-stage heart failure necessitating evaluation for heart transplantation is increasingly recognized in arrhythmogenic right ventricular cardiomyopathy (ARVC). These patients present unique challenges in pre-transplant and peri-transplant management given their predominantly right ventricular (RV) failure and propensity for ventricular arrhythmias. We sought to utilize a tertiary ARVC referral and heart transplant centre experience to describe management of a series of patients with ARVC undergoing heart transplantation at our centre. METHODS AND RESULTS: We queried the Johns Hopkins ARVC Registry for all patients who underwent heart transplantation and further studied the subset undergoing transplantation at the Johns Hopkins Hospital. Patient demographics, clinical characteristics, and pre-transplant clinical course were obtained from the registry and electronic medical records. Of the 532 patients in the ARVC Registry, 63 (12%) underwent heart transplantation. Nine (six male) of these patients both had known ARVC prior to transplant and were transplanted at Johns Hopkins Hospital between 2006 and 2020 at a mean age of 42 ± 14 years old. Pathogenic ARVC genetic variants were identified in six (67%) patients, all of whom had variants in the plakophilin-2 (PKP2) gene. RV failure was universal with median right atrial to pulmonary capillary wedge pressure (RA/PCWP) ratio of 1.4 [interquartile range (IQR) 1.2-1.5] and median right ventricular stroke work index (RVSWI) of 0 g·m/m2 /beat (IQR 0-0.3). Six had a history of catheter ablation for ventricular arrhythmia with five of the six having at least three ablations. Transplant evaluation was initiated an average of 344 ± 407 days after first developing heart failure symptoms. The most common bridge to transplant support included inotropes (n = 3) and extracorporeal membrane oxygenation (ECMO) (n = 2). Contraindication to inotropes or mechanical support was common due to ventricular arrhythmia and RV predominant cardiomyopathy. CONCLUSIONS: Heart transplantation is a curative treatment for ARVC, but due to frequent ventricular arrhythmias and RV predominant pathology, patients require unique considerations in regard to timing of evaluation, haemodynamic support options, and wait listing qualification.
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Displasia Ventricular Derecha Arritmogénica , Cardiomiopatías , Ablación por Catéter , Insuficiencia Cardíaca , Trasplante de Corazón , Adulto , Displasia Ventricular Derecha Arritmogénica/complicaciones , Displasia Ventricular Derecha Arritmogénica/diagnóstico , Displasia Ventricular Derecha Arritmogénica/cirugía , Insuficiencia Cardíaca/cirugía , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) classically initially present with ventricular arrhythmias or, less commonly, heart failure. Myocardial inflammation has been implicated in pathogenesis, but clinical myocarditis in ARVC is less described. We therefore studied clinical myocarditis as an initial ARVC presentation, and hypothesized that these patients have distinct clinical and genetic characteristics. Using the Johns Hopkins ARVC Registry, we identified 12 patients (all female, median age 20) referred between 2014 and 2019 diagnosed with myocarditis at presentation who were subsequently diagnosed with ARVC by Task Force Criteria. Majority presented with chest pain (nâ¯=â¯7, 58%) or ventricular arrhythmia (nâ¯=â¯3, 25%). All patients had troponin elevations and left ventricular (LV) function was reduced in 5 (42%). Magnetic resonance imaging demonstrated LV delayed gadolinium enhancement and/or pericardial enhancement in 10 (83%); only 3 (25%) patients had right ventricular abnormalities. Pathogenic genetic variants were identified in 11 (92%) patients: 10 desmoplakin (DSP) and 1 desmoglein-2 (DSG2). Thus, nearly 1/3 (10/32, 31%) of overall DSP ARVC patients were originally diagnosed with myocarditis. Patients were diagnosed with ARVC 1.8 years (IQR 2.7 years) after presentation and 8 (75%) patients did not meet Task Force Criteria without genetic testing. ARVC diagnosis led to an additional 5 (42%) patients referred for implantable cardiac defibrillator and 17 family member diagnoses. In conclusion, ARVC may initially present as myocarditis and these patients have distinct characteristics including female gender, LV involvement and DSP gene variants. Genetic testing is key to ARVC diagnosis and should be considered in select myocarditis patients.
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Displasia Ventricular Derecha Arritmogénica/diagnóstico , Miocarditis/fisiopatología , Disfunción Ventricular Izquierda/fisiopatología , Adolescente , Adulto , Displasia Ventricular Derecha Arritmogénica/genética , Displasia Ventricular Derecha Arritmogénica/fisiopatología , Biopsia , Niño , Diagnóstico Tardío , Desmogleína 2/genética , Desmoplaquinas/genética , Errores Diagnósticos , Diagnóstico Precoz , Electrocardiografía , Femenino , Pruebas Genéticas , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Miocardio/patología , Linaje , Fenotipo , Sistema de Registros , Factores Sexuales , Adulto JovenRESUMEN
BACKGROUND: Conventional median sternotomy (CMS) is still the standard technique utilized to implant left ventricular assist devices (LVADs). Recent studies suggest that less invasive surgery (LIS) may be beneficial; however, robust data on differences in right heart failure (RHF) are lacking. This study aimed to determine the impact of LIS compared with that of CMS on RHF outcomes after LVAD implantation. METHODS: An international multicenter retrospective cohort study was conducted across 5 centers. Patients were grouped according to their implantation technique (LIS vs CMS). Only centrifugal devices were included. RHF was defined as severe or severe acute RHF according to the 2013 Interagency Registry for Mechanically Assisted Circulatory Support (INTERMACS) definition. Logistic multivariate regression and propensity scoreâmatched analyses were performed to account for confounding. RESULTS: Overall, 427 implantations occurred during the study period, with 305 patients implanted using CMS and 122 using LIS. Pre-operative extracorporeal membrane oxygenation (ECMO) and intra-aortic balloon pump (IABP) use was more common in the CMS group; off-pump implantation was more common in the LIS group. Other pre-implant variables, including age, creatinine, hemodynamics, and tricuspid regurgitation, did not differ between the 2 groups. Post-operative RHF was less common in the patients who underwent LIS than in those who underwent CMS as was post-operative right ventricular assist device (RVAD) use. LIS remained associated with less RHF in the multivariate analysis. After propensity score matching conditional for age, sex, INTERMACS profile, ECMO, and IABP use in a ratio of 2:1 (CMS to LIS), RHF (29.9% vs 18.6%, pâ¯=â¯0.001) and the need for post-operative RVAD (18.6% vs 8.2%; pâ¯=â¯0.009) remained more common in the CMS group than in the LIS group. There were no significant differences in survival up to 1 year between the groups. CONCLUSIONS: LIS may be associated with less RHF after LVAD implantation compared with CMS. Despite the possible reduction in RHF, there was no difference in 1-year survival. LIS is an alternative to traditional CMS.
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Insuficiencia Cardíaca/cirugía , Corazón Auxiliar , Procedimientos Quirúrgicos Mínimamente Invasivos/normas , Guías de Práctica Clínica como Asunto , Sistema de Registros , Función Ventricular Derecha/fisiología , Femenino , Estudios de Seguimiento , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/fisiopatología , Humanos , Contrapulsador Intraaórtico , Masculino , Persona de Mediana Edad , Puntaje de Propensión , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Background Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by high arrhythmic burden and progressive heart failure, which can prompt referral for heart transplantation. Cardiopulmonary exercise testing (CPET) has an established role in risk stratification for advanced heart failure therapies, but has not been described in ARVC/D. This study sought to determine the safety and prognostic utility of CPET in patients with ARVC/D. Methods and Results Using the Johns Hopkins ARVC/D Registry, we examined patients with ARVC/D undergoing CPET. Baseline characteristics and transplant-free survival were compared on the basis of peak oxygen consumption (pVO2) (≤14 or >14 mL/kg per minute) and ventilatory efficiency (Ve/VCO2 slope ≤34 or >34). Thirty-eight patients underwent 50 CPETs. There were no sustained arrhythmic events. Twenty-nine patients achieved a maximal test. Patients with pVO2 ≤14 mL/kg per minute were more often men (P=0.042) compared with patients with pVO2 >14 mL/kg per minute. Patients with Ve/VCO2 slope >34 tended to have more moderate/severe right ventricular dilation (7/9 [78%] versus 10/26 [38%]; P=0.060) and clinical heart failure (8/9 [89%] versus 13/26 [50%]; P=0.056) compared with patients with Ve/VCO2 slope ≤34. Patients who underwent heart transplantation were more likely to have clinical heart failure (10/10 [100%] versus 13/28 [46%]; P=0.003). Patients with Ve/VCO2 slope >34 had worse transplant-free survival compared with patients with Ve/VCO2 slope ≤34 (n=35; hazard ratio, 6.57 [95% CI, 1.28-33.72]; log-rank P=0.010), whereas transplant-free survival was similar on the basis of pVO2 groups (n=29; hazard ratio, 3.38 [95% CI, 0.75-15.19]; log-rank P=0.092). Conclusions CPET is safe to perform in patients with ARVC/D. Ve/VCO2 slope may be used for risk stratification and guide referral for heart transplantation in ARVC/D.