Ventricular Arrhythmias in Marfan Syndrome: Prevalence and Clinical Correlates in a Multicenter Cohort

Ventricular arrhythmias are increasingly recognized in Marfan syndrome, but associated clinical and structural features remain incompletely defined.

We performed a retrospective multicenter cohort study of 783 adults with confirmed Marfan syndrome at 3 Mayo Clinic sites. Clinical, arrhythmic, echocardiographic, cardiac magnetic resonance, surgical, and implantable cardioverter defibrillator data were obtained by manual chart review. Associations with sustained ventricular tachycardia (VT) or ventricular fibrillation (VF) were evaluated using univariable logistic regression, a primary multivariable model in the full cohort, and a prespecified exploratory cardiac magnetic resonance sensitivity model.

Sustained VT/VF occurred in 74 patients (9.5%) over 12.7±7.6 years. On univariable analysis, sustained VT/VF clustered with an adverse structural-electrical phenotype including atrial arrhythmias, ventricular remodeling, mitral valve disease, cardiac surgery history, and late gadolinium enhancement. In the primary multivariable model, nonsustained VT (odds ratio, 12.11 [95% CI, 6.43-22.79]; P<0.001), lower left ventricular ejection fraction (odds ratio, 0.95 per 1% increase [95% CI, 0.93-0.97]; P<0.001), history of at least 1 cardiac surgery (odds ratio, 3.59 [95% CI, 1.65-7.84]; P=0.001), and moderate-severe mitral regurgitation (odds ratio, 2.00 [95% CI, 1.07-3.75]; P=0.030) were independently associated with sustained VT/VF. In the cardiac magnetic resonance sensitivity model, nonsustained VT, lower left ventricular ejection fraction, and late gadolinium enhancement remained associated with sustained VT/VF.

In adults with Marfan syndrome, sustained VT/VF occurs in nearly 1 in 10 patients and is associated with a broader structural-electrical phenotype. Late gadolinium enhancement provided additional risk signal among patients undergoing cardiac magnetic resonance.