2026-06-27 | Rapid Progression of Coronary Disease in Fabry Disease: Vulnerable Plaque by Intravascular Ultrasound.

Mechanisms of rapidly progressive coronary disease in young Fabry patients despite standard therapy remain unclear. A 43-year-old man with classic Fabry disease developed exertional angina despite receiving enzyme replacement therapy and having well-controlled traditional risk factors. Coronary angiography revealed severe triple-vessel disease, and intravascular ultrasound indicated multiple vulnerable plaques. Positive autoantibodies and elevated C-reactive protein suggested an underlying inflammatory state. Management included percutaneous intervention, intensive lipid-lowering, and the addition of colchicine. This case suggests that Fabry disease itself may constitute a strong, independent risk factor for atherosclerosis, and secondary inflammation may further accelerate plaque progression, extending beyond the scope of traditional risk factor assessment. Clinicians should be vigilant for rapid coronary progression in patients with Fabry disease. Intravascular imaging and immune evaluation can help uncover the underlying mechanisms, and comprehensive management might benefit from intensive lipid-lowering and anti-inflammatory therapy.

Open article ↗

2026-06-25 | Inflammation in Cardiomyopathies: Cellular Mechanisms Across Cardiac Phenotype.

Cardiomyopathies are traditionally classified by structural and genetic phenotypes, but emerging evidence highlights chronic myocardial inflammation as a pivotal driver of disease progression across different etiologies. This review synthesizes the current literature on the cellular and molecular inflammatory mechanisms underlying hypertrophic cardiomyopathy, Anderson-Fabry disease, cardiac amyloidosis, arrhythmogenic cardiomyopathy, and dilated cardiomyopathy. Across these distinct conditions, endogenous triggers such as metabolic substrates, misfolded amyloid fibrils, mechanical stress, or viral genomes act as damage-associated molecular patterns. These stimuli activate innate and adaptive immune cascades, notably the Toll-like receptors, the NF-κB pathway, and the NLRP3 inflammasome. This immune activation establishes a pro-inflammatory microenvironment that promotes fibroblast reprogramming, myocardial edema, and progressive fibrotic or fibro-fatty remodeling. Inflammation is an active, core pathophysiological mechanism rather than a passive secondary bystander in cardiomyopathies. Recognizing these shared immune pathways provides a framework for improved risk stratification and highlights the potential for targeted immunomodulatory therapies to alter disease trajectories.

Open article ↗

2026-06-23 | Fabry Disease: Current Perspectives on Diagnosis and Management Strategies.

Fabry disease is a rare, X-linked lysosomal storage disorder caused by deficient α-galactosidase A activity, leading to progressive accumulation of globotriaosylceramide in multiple tissues. Its estimated incidence ranges from 1 in 40,000 to 1 in 117,000 live births. Fabry disease manifests primarily as 2 phenotypes: classic (type 1), presenting in childhood with neuropathic pain, fatigue, thermal intolerance, and early multiorgan involvement; and late onset (type 2), typically manifesting in adulthood with predominant cardiac or renal complications. Timely diagnosis requires clinical suspicion combined with enzymatic assays and genetic testing; however, atypical presentations and variability in female patients often delay recognition, underscoring the necessity for heightened clinical vigilance. Current therapeutic approaches primarily focus on enzyme replacement therapy and pharmacologic chaperones, aimed at enhancing quality of life and delaying organ dysfunction. Optimal management necessitates an individualized, multidisciplinary strategy encompassing nephrology, cardiology, genetics, clinical pharmacy, and pain management. Emerging treatments, including next-generation enzyme replacement therapies, substrate reduction therapy, gene therapy, and mRNA-based therapeutics, offer promising avenues for more effective and durable outcomes. Ongoing clinical trials and comprehensive long-term outcome studies are crucial for refining these innovative therapeutic strategies and further advancing patient care.

Open article ↗