Marfan Syndrome and Sudden Death

Source: Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol. 2003;41:329–332.Aortic rupture is a well-recognized cause of sudden death (SD) among patients with Marfan syndrome,1 but some SDs in this population occur without identifiable cause. Because ventricular arrhythmia (VA) seems a likely cause for these SDs, the authors from Little Rock, Ark, and Toronto, Ontario, Canada sought evidence for rhythm disturbances among 70 patients with Marfan syndrome diagnosed at birth to 52 years (median, 10 years) who had comprehensive evaluation and follow-up at a single institution. Among these patients, 90% were diagnosed and followed from childhood (<18 years of age). Mean age at follow-up was 17 years (range, 1.5 to 55 years) with a median follow-up duration of 6 years (range, 20.2 months to 24.5 years). Each underwent frequent cardiac examination, electrocardiography, echocardiography, and at least one 24-hour ambulatory electrocardiogram (ambECG). There were 3 deaths in this group of 70 patients (at ages 11, 21, and 23 years). All deaths were sudden, but none were due to aortic dissection with rupture. SD was more common in the group of patients with VA (defined as >10 premature ventricular contractions per hour) on ambECG, occurring in 13 (21%) patients of the 62 patients who had this test performed. The only clinical or laboratory feature with independent association with VA was left ventricular dilation. The authors conclude that young patients with Marfan syndrome are at risk for SD, even if they never have aortic dissection. They recommend routine amb ECG for these patients to detect VA. They speculate that left ventricular dilation and associated dispersion of ventricular repolarization may predispose some individuals with Marfan syndrome to SD from VA.Patients with Marfan syndrome undergo frequent imaging to detect aortic dissection, and receive beta blockers to slow its progression.2 The authors suggest that VA is another important cause of SD, but this remains unproven. The data imply that young people with Marfan syndrome who have greater than 10 ventricular ectopic beats per hour on an ambECG represent a high-risk group for SD from a cause other than aortic dissection.The authors’ recommendation for routine ambECG for young people with Marfan syndrome is somewhat troubling. It asks the clinician to go to some lengths to identify those at higher risk for a life-threatening complication for which no effective therapy has been established. Do these patients need drugs directed against ventricular arrhythmias? If so, which ones? Do they need pacemakers? Do they need implantable automatic defibrillators? Extensive prospective clinical trials will be necessary to evaluate the efficacy of a variety of potentially helpful drugs and procedures. Because SD occurred in only 4% of the study population over a median 6-year follow-up, we can expect that large numbers of clinical subjects will require observation over long periods of time to identify effective treatments.Screening for VA and, potentially, being labelled at increased risk for sudden death undoubtedly carries with it a significant burden for the patient and family. It is difficult to believe that the potential utility of unproven treatment to protect against an unproven risk outweighs the potential adverse effects of such interventions. We think such screening and treatment should be done as part of a study requiring informed consent, which includes a control population without Marfan. We also think it is premature for the authors to skip from these observations to a recommendation for screening and treatment.

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