Cardiol Rev. 2025 Nov 20. doi: 10.1097/CRD.0000000000001131. Online ahead of print.
ABSTRACT
Marfan syndrome is a multisystem connective tissue condition that results in extracellular matrix breakdown and dysregulated transforming growth factor-beta signaling caused by FBN1 mutations. The principal focus of clinical surveillance and research is the aortic root aneurysm. However, with cardiovascular factors being the main sources of morbidity and mortality, they necessitate equal consideration. This narrative review provides a comprehensive overview of the pathophysiology, range of cardiac involvement, advancements in diagnosis, and therapeutic approaches. Certain forms of FBN1 mutations affect the risk and rate of progression of aortic root dilatation. Marfan syndrome is also characterized by valvular diseases, such as tricuspid and mitral valve prolapse, the latter of which may be an early indicator of serious pediatric illness. Independent of valvular disease, new data also indicate intrinsic cardiac dysfunction and an increased risk of ventricular arrhythmias. Echocardiography is used for diagnosis, and new measures such as the aortic root ratio improve screening for children. For the detection of mitral annular disjunction and myocardial fibrosis, cardiac magnetic resonance imaging is essential. Given the strong links between genotype and phenotype, genetic testing helps with risk stratification and verifies the diagnosis. Prophylactic aortic surgery based on predetermined thresholds, beta-blocker or angiotensin-receptor blocker medication, and lifelong observation are all part of management. This narrative review emphasizes that to enhance outcomes and quality of life for patients with Marfan syndrome, comprehensive cardiac treatment necessitates a multidisciplinary approach and vigilance for the complete range of cardiovascular sequelae.
PMID:41297058 | DOI:10.1097/CRD.0000000000001131