Beyond Sarcomeric Hypertrophic Cardiomyopathy: How to Diagnose and Manage Phenocopies.

PURPOSE OF REVIEW: We describe the most common phenocopies of hypertrophic cardiomyopathy, their pathogenesis, and clinical presentation highlighting similarities and differences. We also suggest a step-by-step diagnostic work-up that can guide in differential diagnosis and management. RECENT FINDINGS: In the last years, a wider application of genetic testing and the advances in cardiac imaging have significantly changed the diagnostic approach to HCM phenocopies. Different prognosis and management, with an increasing availability of disease-specific therapies, make differential diagnosis mandatory. The HCM phenotype can be the cardiac manifestation of different inherited and acquired disorders presenting different etiology, prognosis, and treatment. Differential diagnosis requires a cardiomyopathic mindset allowing to recognize red flags throughout the diagnostic work-up starting from clinical and family history and ending with advanced imaging and genetic testing. Different prognosis and management, with an increasing availability of disease-specific therapies make differential diagnosis mandatory.

Prevalence, causes and predictors of cardiovascular hospitalization in patients with hypertrophic cardiomyopathy.

BACKGROUND: Despite numerous studies assessing the natural history of patients with hypertrophic cardiomyopathy (HCM), there is lack of data regarding the burden of hospitalization. Aim of this study was to describe prevalence, causes and predictors of cardiovascular hospitalization in patients with HCM. METHODS: We retrospectively included 253 patients with HCM undergoing first evaluation at our center. Enrolment criteria included cardiac magnetic resonance imaging (CMRI) at baseline and > 1-year follow-up. All hospital admissions were recorded during follow-up and adjudicated as acute vs elective and cardiovascular (CV) vs non-cardiovascular (non-CV). RESULTS: During 6.4 ± 4.0 years there were 187 hospitalizations in 92 patients (36%, at a rate of 5.7%/year). Most were CV-related (158/187,84.5%; 4.8%/year) while non-CV admissions were 29/187 (15.5%, 0.88%/year). There was a slight predominance of elective (n = 96, 58%, 2.8%/year) vs acute (n = 62, 41.8%, 2.0%/year) CV hospitalizations. Independent predictors of CV hospitalization were baseline symptoms (NYHA class II vs I: HR 2.06; 95% CI 1.24-3.43, NYHA III-IV vs I: HR 3.05; 95% CI 1.40-6.65, p = .004), indexed left atrial (LA) volume (HR 1.03; 95% CI 1.01-1.04, p < .001), and lower indexed right ventricular end-diastolic volume iRVEDV) at cardiac magnetic resonance (HR 0.99; 95% CI 0.97-0.99, p = .03). CONCLUSIONS: In little over 6 years, CV hospitalization was required in over one-in-three of our HCM patients, often unplanned and due to acute disease-related complications. Symptomatic status, larger LA volume and reduced iRVEDV at baseline were independently associated with CV admissions. Strategies aimed at preventing hospitalizations are an important target to reduce the burden of disease in HCM patients.

Electroanatomic mapping-guided endomyocardial biopsy in patients with apparently idiopathic ventricular arrhythmias.

The management of ventricular arrhythmias (VA) in the presence of an apparently normal heart represents a major clinical challenge and a main field of clinical research. In the past years, new imaging techniques and the spreading of new generation genetic testing have improved our knowledge of the pathogenesis of apparently idiopathic VA. However, in the absence of specific recommendations, the type and the number of noninvasive and invasive studies necessary to rule out a possible underlying cause of VA or sudden cardiac death remain extremely variable. Therefore, in many patients the underlying cardiac disease is not recognized, and a possible specific therapeutic approach cannot be initiated. Endomyocardial biopsy (EMB) can provide a significant contribution to the identification of myocardial disorders causing VA but has never been definitively included in the routine diagnostic work-up of these patients due to the possible sampling error particularly in disorders with a focal or patchy distribution. Three-dimensional electroanatomic mapping (EAM) may guide EMB allowing to draw myocardial samples from abnormal voltage, areas of the ventricular wall, thus reducing sampling error and increasing the sensitivity of EMB. The systematic association of EAM with EMB represents a crucial approach to characterize the pathological substrate of electroanatomic abnormalities and VA and to further clarify the arrhythmogenic mechanisms of acquired and also inherited arrhythmic disorders.

Anticoagulation resumption after intracranial hemorrhage in patients treated with VKA and DOACs.

BACKGROUND: Intracranial hemorrhage (ICH) is associated with severe prognosis and recurrent risk. This impacts on the decision to resume anticoagulation in atrial fibrillation (AF) or venous thromboembolism (VTE) patients. Purpose of our study is to evaluate the incidence rate of recurrent ICH in patients with AF or VTE resuming anticoagulation after a first ICH episode. METHODS: We report data of two cohorts of AF or VTE after a first ICH. The Vitamin K antagonist (VKA) cohort (166 patients) derives from CHIRONE Study, the direct oral anticoagulant (DOAC) cohort (178 patients) derives from START2-Register RESULTS: The clinical characteristics of the two cohort are similar with the exception of more prevalence of history of previous stroke/TIA in DOAC patients with respect to VKA (p = 0.02) and serum creatinine levels>1.5 mg/dL in VKA patients with respect to DOAC(p = 0.0001). The index ICH was spontaneous in 66.4% and in 33.7% among DOAC and VKAs cohort respectively (p = 0.0001). During follow-up, 14 recurrent ICH were recorded; 9 (rate 2.5 × 100 patient-years) in VKA and 5 (rate 1.3 × 100 patient-years) in DOAC (Relative Risk 1.9; 95% CI 0.6-7.4; p = 0.2). The univariate logistic regression analysis showed that patients with recurrent ICH were more frequently males, hypertensive, with a history of previous Stroke/TIA and older than patients without recurrence. VKA patients showed a higher risk of recurrence with respect to DOAC patients (OR 1.9;95% CI 0.7-6.7). CONCLUSIONS: A trend toward fewer ICH recurrences was detected among DOACs patients in comparison to the previously reported rate of patients on warfarin.

[Ventricular storm in a young man with primary hypokinetic dilated cardiomyopathy: why thinking of sarcoidosis?] / Storm ventricolare in un giovane con cardiomiopatia ipocinetico-dilatativa primitiva: perché pensare alla sarcoidosi.

The diagnostic approach to patients with cardiac sarcoidosis is challenging, as the disease may occur as a subclinical entity or have heterogeneous clinical manifestations ranging from ventricular arrhythmias to advanced cardiac failure. Therefore, while clinical suspicion remains key, imaging techniques such as nuclear magnetic resonance imaging and myocardial scintigraphy play an important confirmatory role. Final diagnosis requires histological proof on cardiac or extracardiac biopsy. A multidisciplinary context is essential for appropriate diagnosis, staging and management. We present the case of a young man with dilated cardiomyopathy in whom, following the onset of malignant and recurrent ventricular arrhythmias, a final diagnosis of cardiac sarcoidosis was reached based on a host of invasive and non-invasive diagnostic techniques, allowing tailored treatment.

Oral anticoagulation in very elderly patients with atrial fibrillation: Results from the prospective multicenter START2-REGISTER study.

Direct oral anticoagulants (DOACs) have shown similar efficacy and safety with respect to warfarin in patients with atrial fibrillation (AF). However, the proportion of patients aged ≥85 years enrolled in clinical trials was low and the applicability of their results to very elderly patients is still uncertain. We have carried out a prospective cohort study on AF patients aged ≥85 years enrolled in the Survey on anticoagulaTed pAtients RegisTer (START2-Register) and treated with either VKAs or DOACs, with the aim to evaluate mortality, bleeding and thrombotic rates during a long-term follow-up. We enrolled 1124 patients who started anticoagulation at ≥85 years with VKA (58.7%) or DOACs (41.3%), Clinical characteristics of patients were similar, except for a higher prevalence of coronary artery disease and renal failure in VKAs patients and of a history of previous bleeding and previous stroke/TIA in patients on DOACs. Median CHA2DS2VASc and HAS-BLED scores were similar between the two groups. During follow-up, 47 major bleedings (rate 2.3 x100 pt-yrs) and 19 stroke/TIA (0.9 x100 pt-yrs) were recorded. The incidence of bleeding was similar between patients on VKAs and DOACs. Patients on DOACs showed a higher rate of thrombotic events during treatment (rate 1.84 and 0.50,respectively). Mortality rate was higher in patients on VKAs than in patients on DOACs (HR 0.64 (95% CI 0.46-0.91). In conclusion, we confirm the overall safety and effectiveness of anticoagulant treatment in very elderly AF patients, with lower mortality rates in DOACs patients, similar bleeding risk, and a higher risk for cerebral thrombotic events in DOACs patients.