Associazione Nazionale Medici Cardiologi Ospedalieri

www.anmco.it

CONGRESS ABSTRACT

CONGRESS ABSTRACT

Categorie
Unveiling the dark side of phospholamban: the role of cascade genetic testing
Anno:
2025
Intracellular Ca²⁺ regulation is critical for cardiac function, with SERCA2a pumping Ca²⁺ back into the sarcoplasmic reticulum for relaxation, counteracted by its reversible inhibitor phospholamban (PLN). Mutations in PLN, such as p.Leu39X, profoundly affect cardiac health. Homozygosity for Leu39X, described only twice in Greece (2001), is extremely rare and causes early-onset dilated cardiomyopathy (DCM)…
Leggi di più
Effects of Mavacamten on hypertrophic obstructive cardiomyopathy: not just a resolution of obstruction
Anno:
2025
Case Report: A 46-year-old male with hypertrophic obstructive cardiomyopathy (HOCM) due to a MYH7 mutation was diagnosed at age 30 through familial screening. Despite treatment with bisoprolol and disopyramide at maximum tolerated doses, the patient experienced persistent dyspnea with mild exertion. Investigations revealed characteristic ECG findings: pseudonecrosis Q waves in V1-V2, ST-segment elevation…
Leggi di più
Is “arrhythmogenic right ventricular dysplasia” the correct diagnosis for our patient?
Anno:
2025
A 71-year-old man labeled in the past as having “arrhythmogenic right ventricular dysplasia” was hospitalized in May 2022 for exacerbation of right-sided heart failure symptoms. He suffered from arterial hypertension and dyslipidemia, he was an ex-smoker and had family history of ischemic heart disease. In 2014 a slow-slow atrioventricular…
Leggi di più
Ventricular Tachycardia in Cardiac Sarcoidosis: To Immunosuppress or Not?
Anno:
2025
Background: Sarcoidosis is a multisystem inflammatory disease of unknown etiology, commonly affecting the lungs, and lymphatic system. Clinically evident cardiac involvement occurs in about 5% of cases, presenting as bradyarrhythmias, VT, and heart failure. However, many patients have subclinical disease and autopsies show cardiac sarcoidosis (CS) in 20–29% of systemic…
Leggi di più
Overlapping of light chains amyloidosis and myocarditis in systemic sclerosis: a diagnostic and therapeutic challenge
Anno:
2025
Case report: A 56-year-old woman with history of hypertension and MGUS (IGM kappa) presented with syncopal episodes, hypotension, exertional dyspnea and asthenia. The patient was admitted to our Cardiology ward due to elevated NTProBNP and hs troponin (1500 ng/l, vn <14); the coronary angiography showed normal coronary arteries. Transthoracic…
Leggi di più
DESMOPLAKIN CARDIOMYOPATHY IN A PATIENT WITH LEFT BUNDLE BRANCH BLOCK: A CASE REPORT
Anno:
2025
We report the case of a 55-year-old man who presented to the emergency department with  fatigability and nocturnal dyspnea. The electrocardiogram showed left bundle branch block. Severe left ventricular dilation (EDV 265 ml)  and dysfunction with ejection fraction (EF) 25-30% were found on the echocardiogram. The NT proBNP was…
Leggi di più
HYPERTROPHIC CARDIOMYOPATHY IN FOCUS: CLINICAL CHARACTERISTICS, GENETIC INFLUENCES, AND PROGNOSTIC IMPLICATIONS
Anno:
2025
Introduction Hypertrophic Cardiomyopathy (HCM) ranges from asymptomatic cases to severe symptoms and life-threatening complications. This study aims to evaluate clinical features, genetic factors, echocardiographic findings, and progression toward advanced stages or SCD of a large cohort of HCM patients. Methods We retrospectively analyzed 413 HCM patients (50% obstructive; 63.4% male;…
Leggi di più
Pediatric-onset of Scarring Cardiomyopathy in children affected by epidermolysis bullosa simplex with KLHL24 mutations
Anno:
2025
Background and aim:  Epidermolysis bullosa simplex (EBS) is a rare inherited blistering disease and mutations in kelch-like protein 24 (KLHL24) were recently implicated in a unique subtype of EBS [1,2]. KLHL24 is expressed at similar levels in keratinocytes and cardiomyocytes. There is a growing association of dilated cardiomyopathy in…
Leggi di più
Prevalence of genetic variants associated with cardiac diseases in young out-of-hospital cardiac arrest (OHCA) patients in Pavia Province
Anno:
2025
Introduction: Out-of-hospital cardiac arrest (OHCA) is the sudden cessation of mechanical cardiac activity evidenced by the lack of any systemic circulation signs, occurring outside a hospital. In young patients most of the OHCAs are attributable to structural or arrhythmogenic genetic-determined cardiomyopathies. A number of studies evaluated genetic variants in…
Leggi di più
A rare and venomous myocarditis
Anno:
2025
Venomous bites are medical emergencies that may result in life-threatening clinical effects. Cardiovascular complications are uncommon but they can be dangerous if not early detected and treated. Cerebral and myocardial infarction are described; myocarditis as consequence of viper envenomation in humans are very rare, almost anedoctal. We present the…
Leggi di più

A.N.M.C.O. – Via La Marmora 36, 50121 Firenze (Italy) – Partita I.V.A. 05469530488 – Codice Fiscale 01301130488 – Privacy
www.anmco.it | segreteria@anmco.it

Cookie Policy Privacy Policy

Seguici su

Facebook Twitter Youtube Linkedin Instagram Telegram