A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.

Background: A 23-year-old male with arrhythmic syncope and a presumed diagnosis of COVID-19 myocarditis was ultimately diagnosed with biventricular arrhythmogenic cardiomyopathy based on cardiac magnetic resonance imaging (MRI) and genetic testing (next-generation sequencing).

Case Summary: The patient presented with recurrent syncope, frequent ventricular ectopics, and reduced left ventricular ejection fraction. Cardiac MRI revealed biventricular dysfunction and nonischemic late gadolinium enhancement with ring-like pattern.

Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy: Traveling to the "Middle Earth".

Background: A substantial proportion of hypertrophic cardiomyopathy (HCM) patients and negative genetic testing (Sarc-) have a positive family history of HCM (FH), suggesting a stronger genetic component.

Objectives: The purpose of this study was to assess whether Sarc-/FH+ patients differ from Sarc-/FH- and gene-positive (Sarc+) patients in terms of phenotype and prognosis.

Methods: A total of 654 HCM patients underwent comprehensive clinical assessment and genetic testing, followed for a median of 6 years.

Congenital Heart Disease After Mid-Age: From the "Grown-Up" to the Elderly.

Early surgery and improved medical care have led to the increased survival of neonates with congenital heart disease (CHD), who now commonly reach adulthood. Among adults with CHD, a growing subgroup is represented by middle-aged and even elderly patients. In this elderly population, acquired cardiac and extracardiac comorbidities represent the main cause of morbidity and mortality; the control and correction of cardiovascular risk factors or an appropriate check for extracardiac complications (such as malignancies) is therefore of paramount importance.

Hereditary Thoracic Aortic Diseases.

Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term 'hereditary thoracic aortic diseases'. The present review aims to summarize this very heterogeneous population's clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.

Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence.

Background: Aortic dilation (AoD) is commonly reported in patients with bicuspid aortic valve (BAV) and has been related to flow abnormalities and genetic predisposition. AoD-related complications are reported to be extremely rare in children. Conversely, an overestimate of AoD related to body size may lead to excess diagnoses and negatively impact quality of life and an active lifestyle.

Incidence of stroke in patients with hypertrophic cardiomyopathy in stable sinus rhythm during long-term monitoring.

Introduction: Patients with hypertrophic cardiomyopathy (HCM) are at increased risk of stroke, but the incidence and factors associated with cardioembolic events in HCM patients without atrial fibrillation (AF) remain unresolved. We determined the incidence of stroke in patients in sinus rhythm (SR) monitored with a cardiac implantable electronic device (CIED).

Methods: All consecutive patients diagnosed with HCM and referred to CIED implantation with >16 years at diagnosis and ≥ 1 year follow-up post CIED implantation were retrospectively reviewed.