We report a case of a 70-years-old woman who was admitted at the Emergency Department of our hospital with chest discomfort, palpitations and dyspnoea at rest. Her cardiovascular risk factors were: arterial systemic hypertension and atrial fibrillation. She had been diagnosed with Fabry disease about twenty years before and she had undergone bilateral septal myectomy to alleviate left ventricular outflow tract obstruction. She had been previously implanted with a pacemaker and her last left ventricular ejection fraction was of 50%. The patient had associated symptoms and signs, including monolateral mild hearing loss, neuropathic pain in treatment with corticosteroids and verticillate cornea. At the entrance in CICU, the EKG showed: atrial fibrillation at 160 bpm, left ventricular hypertrophy by t voltage criteria with secondary repolarization abnormalities. PA=90/45 mmHg, SpO2=85% in room air. The transthoracic echocardiogram demonstrated a reduced left ventricular ejection fraction (EF=35%) with increased filling pressure. A chest tomography showed multiple heterogeneous parenchymal consolidations, suggestive of active bronchopneumonic foci, which were treated with antibiotics. A transesophageal echocardiogram demonstrated Windsock-like appearance of the auricle, with the detection of stratified thrombus and microcalcification. The rhythm was unsuccessfully controlled with Esmolole c.i., Verapamil c.i. and Metoprolole with bolus injection and intravenous administration. It was started Noradrenaline and Furosemide infusion. Because of low pressure values and high inflammatory markers, low dose of Dobutamine was initiated but the patient developed ventricular fibrillation which was successfully shocked. After that, she was urgently transferred in Intensive Care Unit. After three days, she returned to CICU with Landiolol c.i.. and inotropes. She was gradually weaned off inotropes and the inflammatory markers got improved but the heart rate was not under control. After the test with Adenosine, it was decided to ablate the atrioventricular node with relief of signs and symptoms.
Conclusions: Fabry disease is a X-linked recessive lysosomal storage disorder. In our case, it is demonstrated that the increase in the heart rate allows to maintain the cardiac output so it is considered a measure of compensation of hypotension and septic vasodilation. However, once the pneumonia is resolved, it is possible to ablate and pace since medical therapy is not effective.