A Challenging Case Of Pulmonary Arterial Hypertension: Never Judge By Appearances

Abstract We report the case of a patient with symptomatic pulmonary hypertension (PH) associated with diffuse systemic sclerosis (SSc) whose initial assessment suggested a group 3 (clinical classification) PH. The patient had a history of drugs/toxins consumption, which contributed to the development of intrinsic pulmonary vascular disease. This changed the panorama towards the diagnosis of pulmonary arterial hypertension (PAH), with important therapeutic and prognostic implications. In fact, the excellent clinical, laboratory and hemodynamic response to therapy confirmed the hypothesis of a case of drug-associated PAH (DPAH) in a patient with diffuse SSc and lung disease. Considering the presence of DPAH, it was deemed necessary to assess acute vasoreactivity during right heart catheterization (RHC). If criteria were met, the clinical scenario may change towards a favorable and sustained clinical and hemodynamic response with oral calcium channel blockers. However, the response to inhaled nitric oxide was negative in our patient and the therapeutic strategy with dual oral combination therapy with tadalafil and ambrisentan was continued. After six-months of therapy the patient significantly improved, from a high to a low risk of one-year mortality.

Association between the number of altered late potential criteria and increased arrhythmic risk in Brugada syndrome patients.

BACKGROUND: Brugada syndrome (BrS) is associated with abnormal electrophysiological properties at right ventricular epicardium, consisting of fragmented electrograms extending well beyond QRS termination. We aimed to evaluate the utility of signal-averaged electrocardiogram (SA-ECG) for the noninvasive assessment of late potentials (LP) and risk stratification of BrS patients. METHODS: A prospective, observational, single-center study of BrS patients is submitted to SA-ECG with the determination of the total filtered QRS duration (fQRS), root mean square voltage of the 40 ms terminal portion of the QRS (RMS40), and duration of the low-amplitude electric potential component of the terminal portion of the QRS (LAS40). LP were considered positive when above standard cut-offs: fQRS > 114 ms, RMS40 < 20 µV, and LAS40 > 38 ms. The rates of malignant arrhythmic events (MAEs), defined as sudden death or appropriate shocks, were compared in relation to clinical characteristics and SA-ECG findings. RESULTS: A total of 106 BrS patients (mean age, 48 ± 12 years, 67.9% male) were studied, 49% with type-1 spontaneous pattern and 81% asymptomatic. During a median follow up of 4.7 years, 10 patients (7.1%) suffered MAEs, including 4 sudden deaths. The presence of LP was significantly associated with the arrhythmic risk, which increased with the number of altered LP criteria. In comparison to the patients who had none or 1 altered LP criterium, MAE risk was 4.7 times higher in those with 2 altered criteria and 9.4 times higher in those with 3 altered LP criteria. CONCLUSIONS: SA-ECG may be a useful tool for risk stratification in BrS. The presence of 2 or 3 abnormal LP criteria could identify a subset of asymptomatic patients at high risk of arrhythmic events.

Infective endocarditis risk in patients with bicuspid aortic valve: Systematic review and meta-analysis.

Background: Antibiotic prophylaxis in bicuspid aortic valve patients is currently a matter of debate. Although it is no longer recommended by international guidelines, some studies indicate a high risk of infective endocarditis. We aim to evaluate the risk of native valve infective endocarditis in bicuspid aortic valve patients and compare to individuals with tricuspid aortic valve. Methods: Study search of longitudinal studies regarding infective endocarditis incidence in bicuspid aortic valve patients (compared with tricuspid aortic valve/overall population) was conducted through OVID in the following electronic databases: MEDLINE, CENTRAL, EMBASE; from inception until October 2020. The outcomes of interest were the incidence rate and relative risk of infective endocarditis. The relative risk and incidence rate (number of cases for each 10 000 persons-year) with their 95 % confidence intervals (95 %CI) were estimated using a random effects model meta-analysis. The study protocol was registered at PROSPERO CRD42020218639. Results: Eight cohort studies were selected, with a total of 5351 bicuspid aortic valve patients. During follow up, 184 bicuspid aortic valve patients presented infective endocarditis, with an incidence rate of 48.13 per 10,000 patients-year (95 %CI 22.24-74.02), and a 12-fold (RR: 12.03, 95 %CI 5.45-26.54) increased risk compared with general population, after adjusted estimates. Conclusions: This systematic review and meta-analysis suggests that bicuspid aortic valve patients have a significant high risk of native valve infective endocarditis. Large prospective high-quality studies are required to estimate more accurately the incidence of infective endocarditis, the relative risk and the potential benefit of antibiotic prophylaxis.

Multiple complications of a well-known disease: a case report of acquired Gerbode defect after bicuspid aortic valve endocarditis.

Background: Infective endocarditis is a rare but serious disease with high morbidity and mortality due to its potential life-threatening complications. Gerbode defect is an anomalous connection between the left ventricle and the right atrium that can be either congenital or acquired, with previous rare reports following abscess formation in infective endocarditis. Case summary: A 27-year-old woman presented in hospital with Janeway lesions, stroke, splenic and hepatic abscesses, and transient complete auriculoventricular block. Bicuspid aortic valve infective endocarditis to methicillin-sensitive Staphylococcus aureus and acquired Gerbode defect were diagnosed. After intravenous antibiotics and aortic valve replacement, the patient was discharged without sequelae. Discussion: Bicuspid aortic valve patients have a higher risk of infective endocarditis than the general population. Infective endocarditis may present with multiple complications, including systemic embolization and local perivalvular lesions. Acquired Gerbode defect is a rare complication of infective endocarditis where transoesophageal echocardiography plays an important role for small shunt detection before surgical intervention.

A Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK).

OBJECTIVES: The goal of this study was to develop a risk score model for patients with Brugada syndrome (BrS). BACKGROUND: Risk stratification in BrS is a significant challenge due to the low event rates and conflicting evidence. METHODS: A multicenter international cohort of patients with BrS and no previous cardiac arrest was used to evaluate the role of 16 proposed clinical or electrocardiogram (ECG) markers in predicting ventricular arrhythmias (VAs)/sudden cardiac death (SCD) during follow-up. Predictive markers were incorporated into a risk score model, and this model was validated by using out-of-sample cross-validation. RESULTS: A total of 1,110 patients with BrS from 16 centers in 8 countries were included (mean age 51.8 ± 13.6 years; 71.8% male). Median follow-up was 5.33 years; 114 patients had VA/SCD (10.3%) with an annual event rate of 1.5%. Of the 16 proposed risk factors, probable arrhythmia-related syncope (hazard ratio [HR]: 3.71; p < 0.001), spontaneous type 1 ECG (HR: 3.80; p < 0.001), early repolarization (HR: 3.42; p < 0.001), and a type 1 Brugada ECG pattern in peripheral leads (HR: 2.33; p < 0.001) were associated with a higher risk of VA/SCD. A risk score model incorporating these factors revealed a sensitivity of 71.2% (95% confidence interval: 61.5% to 84.6%) and a specificity of 80.2% (95% confidence interval: 75.7% to 82.3%) in predicting VA/SCD at 5 years. Calibration plots showed a mean prediction error of 1.2%. The model was effectively validated by using out-of-sample cross-validation according to country. CONCLUSIONS: This multicenter study identified 4 risk factors for VA/SCD in a primary prevention BrS population. A risk score model was generated to quantify risk of VA/SCD in BrS and inform implantable cardioverter-defibrillator prescription.

Non-invasive telemonitoring improves outcomes in heart failure with reduced ejection fraction: a study in high-risk patients.

AIMS: Non-invasive telemonitoring (TM) in patients with heart failure (HF) and reduced left ventricular ejection fraction (HFrEF) may be useful in the early diagnosis of HF decompensation, allowing therapeutic optimization and avoiding re-hospitalization. We describe a TM programme in this population and evaluate its effectiveness during a 12 month period. METHODS AND RESULTS: We conducted a single-centre study of patients discharged from hospital after decompensated HF, allocated into three groups: prospective TM programme, prospective HF protocol follow-up programme (PFP) with no TM facilities, and retrospective propensity-matched usual care (UC). TM effectiveness was assessed by all-cause hospitalizations and mortality; HF-related hospitalization (HFH), days lost to unplanned hospital admissions/death, functional capacity and quality of life (New York Heart Association, Kansas City Cardiomyopathy Questionnaire, 6 min walk test, and plasma N-terminal pro-brain natriuretic peptide) were also evaluated. A total of 125 patients were included [65.9 ± 11.9 years, 32% female, left ventricular ejection fraction 27% (21-32)]. TM was similar to PFP regarding effectiveness; TM reduced all-cause hospitalization and mortality (HR 0.27; 95% CI 0.11-0.71; P < 0.01) and HFH (HR 0.29; 95% CI 0.10-0.89; P < 0.05) as compared with UC. TM reduced the average number of days lost due to unplanned hospital admissions or all-cause death as compared with PFP (5.6 vs. 12.4 days, P < 0.05) and UC (5.6 vs. 48.8 days, P < 0.01). Impact on quality of life was similar between TM and PFP (P = 0.36). CONCLUSIONS: In patients with HFrEF and recent HF hospitalization, non-invasive TM reduced 12 month all-cause hospitalization/mortality and HFH as compared with usual care. TM also reduced the number of days lost due to unplanned hospital admission/death as compared with either an optimized protocol-based follow-up programme or usual care.