Publications by authors named "Enrica Perugini"

Aims: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and progressive cardiomyopathy caused by amyloid fibril deposition in myocardial tissue. Diagnostic challenges have historically hampered timely detection. Recent advances in noninvasive diagnostic techniques have facilitated ATTR-CA diagnosis.

View Article and Find Full Text PDF

Aims: In the EXPLORER-HCM trial, mavacamten reduced left ventricular outflow tract obstruction (LVOTO) and improved functional capacity of symptomatic hypertrophic obstructive cardiomyopathy (HOCM) patients. We sought to define the potential use of mavacamten by comparing real-world HOCM patients with those enrolled in EXPLORER-HCM and assessing their eligibility to treatment.

Methods And Results: We collected information on HOCM patients followed up at 25 Italian HCM outpatient clinics and with significant LVOTO (i.

View Article and Find Full Text PDF
Article Synopsis
  • Brugada syndrome (BrS) is a genetic heart condition that can lead to severe heart issues and sudden cardiac death, characterized by a specific ECG pattern.
  • This study evaluated the Shanghai Score System's effectiveness in predicting the presence of SCN5A mutations in 125 BrS patients, showing that higher scores were linked to these mutations.
  • Results indicated that SCN5A mutations were associated with longer PR and QRS intervals on ECGs, reinforcing the relevance of the Shanghai Score in clinical settings for identifying patients who may benefit from genetic testing.
View Article and Find Full Text PDF

Telemedicine provides healthcare services remotely and represents a fundamental resource for the management of rare and fragile patients. Tele-health implementation is a main objective of the European Reference Networks (ERNs) mission to accelerate diagnosis for rare diseases. TeleNewCARe is a pilot case-control project which evaluates the efficacy and satisfaction of telegenetics for neuromuscular and cardiac adult patients, compared to face-to-face genetic counselling.

View Article and Find Full Text PDF
Article Synopsis
  • Acute aortic dissection is a serious medical problem that's hard to spot because it can look like other illnesses.
  • In this case, a middle-aged man had chest pain and tests that suggested he might have a heart issue, but scans revealed he actually had a dangerous aortic dissection.
  • It's important for doctors to think about aortic dissection when checking for heart problems, and using ultrasound (echocardiography) is key to finding it.
View Article and Find Full Text PDF

OPININION STATEMENT: All patients with ischemic stroke should undergo a comprehensive assessment of cardiovascular risk. Patients with carotid artery disease, symptoms of cerebral ischemia and high cardiovascular risk profiles should be considered for noninvasive testing for coronary artery disease (CAD). Routine testing for CAD before carotid endarterctomy is not recommended.

View Article and Find Full Text PDF

More than a century after it was invented, standard ECG is enjoying a renaissance of sorts. With regard to acute ischemic heart disease, this phenomenon is due mainly to the availability of large databases that in an ordered and predefined manner collect patient ECG patterns along side their clinical and coronary angiography details as well as outcome data. The present review critically analyses the diagnostic role of standard ECG in acute coronary syndromes with or without ST-segment elevation (STEMI and NSTEMI, respectively) and focuses on interpretation pitfalls and patterns that can contribute to therapeutic decision-making.

View Article and Find Full Text PDF

Acute coronary syndromes (ACS) represent the most common cause of death in the western world and determine high morbidity. The objective of this review is to describe the epidemiology of ACS in the Italian setting, using administrative data, clinical surveys and registries. The prevalence of patients with myocardial infarction without persistent ST-segment elevation (NSTE) has increased in comparison with myocardial infarction with persistent ST-segment elevation patients.

View Article and Find Full Text PDF

We describe a rare case of post-infarction myocardial rupture leading to communication between the left ventricle and coronary sinus, which eventually led to a left-to-right shunt. The observation was made in an elderly woman with subacute infero-posterior myocardial infarction. Diagnosis was initially made by transthoracic echocardiography (elicited by the finding of high-velocity flow within a dilated coronary sinus), and was confirmed in greater detail at cardiac magnetic resonance.

View Article and Find Full Text PDF

To investigate associations between gender and myocardial involvement in systemic amyloidosis, we reviewed all patients presenting between 1994 and September 2006 in our institutional network (100 AL and 98 familial transthyretin-related amyloidosis (ATTR) patients, plus 12 elderly men with senile systemic amyloidosis). We focused on echocardiographic descriptors of myocardial involvement (height-indexed mean left ventricular (LV) wall thickness, LV mass index), and baseline LV function. Among familial ATTR patients, female prevalence was lower within the highest tertile of either echocardiographic indicator of myocardial involvement.

View Article and Find Full Text PDF

Transthyretin-related hereditary amyloidosis (ATTR) is genotypically/phenotypically heterogeneous. We investigated myocardial involvement in ATTR in a cohort of patients with a wide range of mutations. Clinical/echocardiographic follow-up of 41 consecutive symptomatic ATTR patients from a single referral center was analyzed according to TTR mutation.

View Article and Find Full Text PDF

Although mainly described in the context of dilated and hypokinetic left ventricles, it is unclear whether isolated ventricular noncompaction (IVNC) is a distinct cardiomyopathy, a subtype of dilated cardiomyopathy, or a morphogenetic disorder. To investigate the spectrum of cardiomyopathies associated with IVNC, children and adults with stringent echocardiographic diagnoses of IVNC were reviewed. Seventy-three patients (12 children aged <15 years) seen since 1994 satisfied stringent echocardiographic criteria for IVNC.

View Article and Find Full Text PDF

Atrial fibrillation and severe carotid artery stenosis are the most common causes of stroke. However, several patients recognize unusual cause for their cerebral ischemia. At the beginning of the last decade after the introduction of transesophageal echocardiography (TEE) and other imaging techniques, atheromatosis of the thoracic aorta has been recognized as an important source of stroke or systemic embolism.

View Article and Find Full Text PDF

The pathophysiologic mechanisms of left ventricular (LV) dysfunction in isolated ventricular noncompaction (IVNC) remain unclear. Evaluating global and segmental systolic LV function in 65 patients with IVNC, this study found that normal wall motion was more common in noncompacted than in compacted segments. The number of noncompacted segments per patient correlated positively with the LV ejection fraction and negatively with LV end-diastolic volume index.

View Article and Find Full Text PDF

Objectives: This study sought to investigate the incidence, risk factors, and prognosis of dilated-hypokinetic evolution in a large cohort of patients with hypertrophic cardiomyopathy (HCM) followed up at a cardiology center serving both the pediatric and the adult population.

Background: The available data on this evolution of HCM mainly regards prevalence (rather than incidence) in adults, with very little being known about the pediatric population.

Methods: A total of 222 consecutive HCM patients (65% men, 19% < or =18 years old) were prospectively evaluated for a mean follow-up of 11 +/- 9 years.

View Article and Find Full Text PDF

Background: Little is known about the morphological and functional evolution of ventricular abnormalities in Loeffler endocarditis.

Methods And Results: We describe 5 patients, including 3 with long-term echocardiographic follow-up, in whom apical obliteration due to fibro-thrombotic thickening of the endocardium showed favorable patterns of evolution. In one patient there was almost complete resolution of the obliterative process with consequently increased effective ventricular volume.

View Article and Find Full Text PDF

Objectives: We investigated the diagnostic accuracy of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) scintigraphy for differentiation of monoclonal immunoglobulin light-chain (AL) and transthyretin (TTR)-related cardiac amyloidosis.

Background: Differential diagnosis between TTR-related and AL amyloidosis is often complex and time-consuming.

Methods: Patients under routine observation with TTR-related/AL systemic amyloidosis and echocardiographic evidence of cardiac involvement were studied with 99mTc-DPD scintigraphy.

View Article and Find Full Text PDF

Background: Cardiac amyloidosis can be diagnostically challenging. Cardiovascular magnetic resonance (CMR) can assess abnormal myocardial interstitium.

Methods And Results: Late gadolinium enhancement CMR was performed in 30 patients with cardiac amyloidosis.

View Article and Find Full Text PDF

To investigate ventricular long-axis function in cardiac amyloidosis (CA) and idiopathic restrictive cardiomyopathy (IRC), 16 patients with CA and 14 with IRC were studied. Left ventricular (LV) long-axis function was depressed in all patients with CA compared with only 36% of patients with IRC. Impairment in longitudinal function was clearly evident, even if fractional shortening and LV filling were normal.

View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_sessionru5m3ul1gqc9dbc8cudlsdlf5kc47b1r): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once