Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives.

Anderson-Fabry disease (AFD) remains a therapeutic challenge despite advances in early diagnosis and the availability of enzyme replacement therapies (ERTs). While early initiation of therapy can mitigate disease progression, resistance mechanisms-such as the development of anti-drug antibodies-limit the efficacy of current treatments, particularly in patients with severe genetic variants. Chaperone therapy provides a targeted option for a subset of patients, yet significant gaps remain in treating those with complete enzyme deficiency.

Novel Insights into Non-Invasive Diagnostic Techniques for Cardiac Amyloidosis: A Critical Review.

Cardiac amyloidosis (CA) is a cardiac storage disease caused by the progressive extracellular deposition of misfolded proteins in the myocardium. Despite the increasing interest in this pathology, it remains an underdiagnosed condition. Non-invasive diagnostic techniques play a central role in the suspicion and detection of CA, also thanks to the continuous scientific and technological advances in these tools.

Aortic valve fibroelastoma presenting with myocardial infarction with non-obstructive coronary arteries (MINOCA): A case report and review of the literature.

Cardiac papillary fibroelastomas (CPFs) are rare benign cardiac tumors more often involving the left-sided valves and related with threatening embolic complications. We report the case of a 35-year-old woman presenting with relapsing-remitting chest pain and elevated cardiac troponins. After a negative coronary angiography, an integrated imaging assessment based on echocardiography and cardiac magnetic resonance showed a pedunculated mass on the aortic valve causing an intermittent obstructive engagement of the right coronary ostium.