Background: The diagnosis and follow-up of cardiac involvement in Fabry disease constitutes an important challenge for clinicians caring for affected patients. Combining cardiac imaging with laboratory biomarkers appears most appropriate for longitudinal monitoring. Therefore, we examined the use of NT-proBNP and its association with imaging findings in patients with Fabry disease. Methods: We analysed cardiac MRI and echocardiography data, as well as laboratory results, from a single-centre prospective registry. Results: Repetitive follow-ups of 38 patients with Fabry disease, of whom 18 presented with left ventricular hypertrophy (LVH), revealed a correlation of NT-proBNP with left ventricular (LV) interventricular septal thickness, LV maximum wall thickness, LV and right ventricular (RV) mass index and trabecular mass in patients with LVH. Patients without LVH did not exhibit any tangible association between NT-proBNP and the mentioned parameters. Conversely, we could not detect an association of NT-proBNP with impairment of LV or RV ejection fraction or diastolic volume. Conclusions: NT-proBNP plays a pivotal role as a biomarker for cardiac involvement in patients with Fabry disease. Interestingly, in this specific population with mostly preserved ejection fraction, it seems to reflect ventricular hypertrophy rather than ventricular dysfunction or dilatation. While strong associations were found in hypertrophic patients, NT-proBNP’s prognostic value appears limited in non- or pre-hypertrophic stages.

NT-proBNP Reflects Left Ventricular Hypertrophy Rather than Left Ventricular Dilatation or Systolic Dysfunction in Patients with Fabry Disease

Anderson–Fabry disease (AFD) is a lysosomal storage disorder, depending on defects in alpha galactosidase A activity, due to a mutation in the galactosidase alpha gene. Cardiovascular involvement represents the leading cause of death in AFD. Cardiac imaging plays a key role in the evaluation and management of AFD patients. Echocardiography is the first-line imaging modality for the identification of the typical features of AFD cardiomyopathy. Advanced echocardiography that allows assessment of myocardial deformation has provided insights into the cardiac functional status of AFD patients. The present review highlights the value and the perspectives of advanced ultrasound imaging in AFD.

Cardiac involvement in Anderson–Fabry disease. The role of advanced echocardiography

Background: Right ventricular (RV) involvement in Anderson–Fabry disease (AFD) is well known in the advanced stages of the disease RV hypertrophies, but little is known about the early involvement. The aim of our study was to assess RV function in AFD patients at diagnosis. Methods: A total of 23 AFD patients and 15 controls comparable for age and sex were recruited. A complete 2D standard echo with 3D volumetric and strain analysis of RV was performed. Results: Two patient populations, comparable for clinical baseline characteristics were considered. RV free wall thickness was significantly increased in the AFD group. No significant differences in standard RV indices (TAPSE, transverse diameter, tissue Doppler velocities of the lateral tricuspid annulus) were found. A 3D volumetric analysis showed reduced RV ejection fraction and lower values of longitudinal septal, free wall and global longitudinal strain (GLS) in AFD patients. RV free wall thickness significantly correlated with both free wall RV LS and RV GLS. In multiple linear regression analysis, RV free wall thickness was independently associated with RV GLS even after correction for age and heart rate. Conclusions: In AFD patients, 3D echocardiography allows for the identification of early subclinical functional impairment of RV. RV dysfunction is independently associated with RV hypertrophy.

Right Ventricular Myocardial Involvement in Anderson–Fabry Disease at Diagnosis: Evaluation with Three-Dimensional Strain Imaging


 
 
 Only one score for prediction of new-onset atrial fibrillation (AF) in patients with hypertrophic cardiomyopathy (HCM) has been developed in North America (HCM-AF North America score).
 
 
 
 To develop a new score (HCM-AF South Italy score) in an Italian derivation cohort and to test the new score with that from North America, in an Italian validation cohort.
 
 
 
 A cohort of 228 patients with HCM and without history of AF, followed at referral center 1 for HCM, was used for model development. A cohort of 226 patients without history of AF, followed at referral center 2, was used for external validation. During follow-up (IQR 3–13 years, median 8 years), 59 (26%) patients developed new-onset AF. Data in the development cohort generated the HCM-AF South Italy score, a point score to predict AF probability: left atrial dimension >49 mm (+5 points), age at clinical evaluation <55 years (+2 points), the use of angiotensin-converting enzyme (ACE) or inhibitor or angiotensin receptor blocker (ARB) at initial evaluation (+2 points), low left ventricular (LV) ejection fraction (<50%) (+2 points), LV outflow tract obstruction (LVOTO) >25 mmHg (+2 points), NYHA class >1 (+1 point).
 
 
 
 Patients from the validation cohort were older, had lower prevalence of HCM family history, lower systolic and diastolic blood pressure, taken fewer drugs like beta-blockers, ACE or ARB, calcium-channel blockers, and antiarrhythmic drugs and had lower LVOTO than patients from the derivation cohort, (overall p<0.05). During follow-up (IQR 1–10 years, median 5 years), 25 (11%) patients developed AF. ROC curve analysis demonstrated that HCM-AF South Italy score was superior to HCM-AF North America score (Figure). A HCM- AF South Italy score >4 identified patients at risk of AF with a sensitivity of 48%, specificity of 76%, PPV of 20% and NPV of 92%.
 
 
 
 Although derived and tested in little and quite different populations, the performance of the HCM-AF South Italy score was superior to that of the score developed in North America.
 
 
 
 Type of funding sources: None.


/pdf/hcm-af-south-italy-score-for-prediction-of-new-onset-atrial-3bg1fnon.pdf

HCM-AF South Italy score for prediction of new-onset atrial fibrillation in patients with hypertrophic cardiomyopathy: data from a derivation and validation italian cohorts

Background: Obesity is a public health problem which prevalence has increased worldwide and is associated with different degrees of hemodynamic alterations and structural cardiac changes. The aim of the study is to investigate the impact of body mass index (BMI) on left atrial function using standard and advanced echocardiography in a population of patients with non-valvular atrial fibrillation (AF). Methods: 395 adult patients suffering from non-valvular AF, divided into three tertiles based on BMI value, carry out a cardiological examination with standard and advanced echocardiography. Results: Peak atrial longitudinal strain (PALS), a measure of left atrial function, is lower in the tertile with highest BMI (14.3 ± 8.2%) compared to both the first (19 ± 11.5%) and the second tertile (17.7 ± 10.6%) in a statistically significant manner (p < 0.002). Furthermore, BMI is significantly associated independent with the PALS by multilinear regression analysis, even after correction of the data for CHA2DS2-VASc score, left ventricular mass index, left ventricular ejection fraction, E/E’ ratio and systolic pulmonary arterial pressure (coefficient standardized β = −0.127, p < 0.02; Cumulative R2 = 0.41, SEE = 0.8%, p < 0.0001). Conclusions: BMI could be considered an additional factor in assessing cardiovascular risk in patients with non-valvular atrial fibrillation, in addition to the well-known CHA2DS2-VASc score.

Association between Obesity and Atrial Function in Patients with Non-Valvular Atrial Fibrillation: An Echocardiographic Study

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Papers

Right Ventricular Myocardial Involvement in Anderson–Fabry Disease at Diagnosis: Evaluation with Three-Dimensional Strain Imaging

HCM-AF South Italy score for prediction of new-onset atrial fibrillation in patients with hypertrophic cardiomyopathy: data from a derivation and validation italian cohorts

Association between Obesity and Atrial Function in Patients with Non-Valvular Atrial Fibrillation: An Echocardiographic Study