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Updated: Jul 25, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Barlow syndrome: A rare etiology of sudden death]
Gonzalo Fernandez Villar1, Mauricio Delgado Gaete1, Ezequiel Lillo1
1Instituto de Medicina Cardiovascular, Servicio de Cardiología, Hospital Italiano de Buenos Aires, Argentina.
Abstract:
We present the case of a 60-year-old woman, with a history of mitral valve prolapse, who consulted for dyspnea and palpitations of 2 weeks of evolution up to functional class IV. The admission electrocardiogram showed a moderately responsive atrial fibrillation rhythm with frequent ventricular extra systoles. A transthoracic echocardiogram was performed which showed mitral valve prolapse with severe impairment of ventricular function. Barlow syndrome was diagnosed. During hospitalization, the patient presented three episodes of cardiorespiratory arrest that were reversed with advanced cardiopulmonary resuscitation maneuvers. During admission, a negative balance was performed, sinus rhythm was reverted and an implantable automatic defibrillator was placed in secondary prevention. During follow-up, severe deterioration of ventricular function persisted. We highlight Barlow syndrome as a rare cause of sudden death and its association with dilated cardiomyopathy.
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