Fatal Ventricular Fibrillation Storm in a Young Patient with Marfan Syndrome

Sir, Marfan syndrome is an autosomal dominant connective tissue disease. The clinical features mainly involve asymptomatic aortic root aneurysms, aortic dissections, dislocation of the ocular lens, and skeletal abnormalities that are characterized by overgrowth of the long bones.[1] The diagnosis of Marfan syndrome is made according to the revised Ghent nosology.[2] Early identification and appropriate management are critical for patients with Marfan syndrome. We herein report a rare case involving a young patient with Marfan syndrome who developed fatal ventricular fibrillation storm without aortic dissection. A 20-year-old male was found in unconsciousness on a sidewalk by a third party and an ambulance was called. His father had been diagnosed with Marfan syndrome. In the present case, Marfan syndrome was also suspected due to tall stature and long extremities. When emergency technicians checked him, he was in cardiac arrest. The initial rhythm was ventricular fibrillation [Figure 1]. He received advanced cardiac life support. On arrival, he still had ventricular fibrillation. He met 8 points of the revised Ghent nosology, which was compatible for Marfan syndrome. He was directly transported into a cardiac catheterization laboratory for indwelling percutaneous cardiopulmonary support. Aortography and coronary angiography revealed no specific findings. Cardiac valve movement was difficult to evaluate due to weak cardiac wall motion. He was transferred to an intensive care unit. However, the patient became asystole and died on the 2nd hospital day.Figure 1: Initial rhythm of the present case. The initial rhythm was ventricular fibrillationA recent study has suggested the potential for sudden death due to fatal arrhythmia in patients with Marfan syndrome.[3-5] Wafa et al. reported on 12,079 hospitalized cases of Marfan syndrome.[3] Among them, 1893 patients (15.7%) had arrhythmia. The ventricular tachycardia group had the highest inpatient mortality rate. However, the precise causes of mortality were not described. Hoffmann et al. reported a prospective study of 77 patients with Marfan syndrome.[4] During follow up, two of these patients died due to sudden cardiac death; however, they did not report whether the two sudden deaths were caused by ventricular fibrillation. In five patients, sustained ventricular tachycardia was documented. They concluded that patients with Marfan syndrome could develop serious ventricular arrhythmias and sudden cardiac death. NT-proBNP independently predicts adverse arrhythmogenic events in patients with Marfan syndrome. However, this was not true for the present case (24.4 pg/mL). Xu et al. reported a patient with Marfan syndrome developed ventricular fibrillation.[5] However, this was the case of a 69-year-old male patient with hypertension, cerebral infarction, repeated heart failure, atrial fibrillation, and lung infection. The clinical background of their case was different from the present case. Accordingly, to the best of our knowledge, this is the first reported case in which a young patient with Marfan syndrome died of ventricular fibrillation without aortic dissection. Further studies are required to investigate the types of clinical features or genetic abnormalities in Marfan syndrome patients that are associated with the development of fatal ventricular fibrillation and the indications for indwelling implantable cardioverter-defibrillator to prevent sudden death. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship This work was supported in part by a Grant-in-Aid for Special Research in Subsidies for ordinary expenses of private schools from The Promotion and Mutual Aid Corporation for Private Schools of Japan. Conflicts of interest There are no conflicts of interest.