Advancing Cardiovascular Management in Heritable Connective Tissue Disorders

Connective tissue diseases, including Marfan syndrome and Loeys–Dietz syndrome, comprise a group of heritable disorders with diverse and potentially life-threatening cardiovascular manifestations. Although aortic root aneurysm and dissection remain defining complications, affected individuals may also develop mitral valve prolapse, aortic regurgitation, ventricular remodeling, arrhythmias, coronary abnormalities, heart failure, and pregnancy-associated cardiovascular risks. Recent advances in genomic analysis, understanding of TGF-β-related signaling, multimodal imaging, and medical and surgical therapies have improved diagnosis and management. However, important uncertainties persist regarding genotype–phenotype relationships, biomarkers of progression, surveillance strategies, thresholds for intervention, dissection risk prediction, treatment efficacy, surgical timing, and long-term outcomes across pediatric and adult populations. Further integration of mechanistic, translational, and clinical research is needed to support more precise, lifelong, and equitable cardiovascular care.This Research Topic aims to connect mechanistic and clinical research to improve the diagnosis and management of cardiac involvement in connective tissue diseases. It will explore genotype–phenotype relationships, disease mechanisms, biomarkers, imaging innovations, medical and surgical therapies, and patient-centered care across pediatric and adult populations.To gather further insights in the assessment, management, and outcomes of cardiac involvement in connective tissue diseases, we welcome articles addressing, but not limited to, the following themes:• Genotype–phenotype correlations and molecular mechanisms• Biomarkers of disease progression and cardiovascular risk• Echocardiography, CMR, CT, and AI-assisted imaging• Surveillance strategies, including pregnancy monitoring• Beta-blockers, ARBs, emerging therapies, and treatment adherence• Aortic and valvular interventions and perioperative care• Arrhythmias, heart failure, and device therapy• Pediatric-to-adult transition, exercise, pregnancy, and psychosocial care• Multidisciplinary models, registries, cost-effectiveness, and equitable access to specialist care Topic editors: Hicham El Masry, Fadi Shamoun, Stanislav Henkin Source: https://www.frontiersin.org/research-topics/77229/advancing-cardiovascular-management-in-heritable-connective-tissue-disorders