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Heart transplant for acute heart failure in kearnes sayre syndrome

Session Poster Session 4

Speaker Daniela Miani

Event : Heart Failure 2019

  • Topic : heart failure
  • Sub-topic : Heart Transplantation
  • Session type : Poster Session

Authors : D Miani (Udine,IT), A Paldino (Trieste,IT), G De Maglio (Udine,IT), S Pizzolito (Udine,IT), N Finato (Udine,IT), C Di Nora (Udine,IT), A Proclemer (Udine,IT), U Livi (Udine,IT)

D Miani1 , A Paldino2 , G De Maglio3 , S Pizzolito3 , N Finato3 , C Di Nora1 , A Proclemer1 , U Livi1 , 1Department of Cardiopulmonary Sciences, UNIVERSITY HOSPITAL - Udine - Italy , 2University of Trieste, Cardiology - Trieste - Italy , 3University Hospital Santa Maria della Misericordia, Laboratory Department of Medical Biological Sciences - Udine - Italy ,


INTRODUCTION: Acute onset of congestive heart failure is an expression of a rare form of dilated cardiomyopathy secondary to Kearnes  Sayre Syndrome (KSS) (mitochondrial disease). We describe the  case of a young patient affected by this syndrome, that underwent orthotropic heart transplant.
CASE PRESENTATION:  a 16 year-old male has been admitted to coronary care unit for a first acute onset of heart failure on Sep 2018.  He was affected by KSS, a mitochondrial disease, characterized by pigmentary retinopathy, ophthalmoplegia, epileptic seizures in therapy with levetiracetam, moderate myopathy, early stage of kidney tubulopathy and blindness, in absence of heart involvement during cardiological follow-up.  He had a normal growth and development.  At admission, physical examination revealed a blood pressure of 105/70 mmHg, tachycardia with heart rate of 123/bpm, jugular venous distention. Laboratory findings were significant for BNP of 988 pg/mL and troponin hs of 114 ng/L. A echocardiogram showed a dilated and hypokinetic left ventricle with an ejection fraction of 11%. In the left apex, three mobile pedunculated  thrombotic masses were visible. There was also evidence of right-sided heart failure with increased pulmonary hypertension (PAPs 55 mmHg).  During the hospitalization, he was treated by intravenous diuretics and heparin, and referred for heart transplant. In absence of contraindication by neurologist and nephrologist, he underwent orthotropic heart transplant, without complications. Currently, after 4 months,  he has not heart transplant rejection in therapy with cyclosporin, mycophenolate and cortisone. Examination of the explanted heart revealed a dilated left ventricle with apical thrombotic material adherent to a focal thickened and activated endocardial border. The posterior wall appeared  thinned and with a greater proportion of transmural interstitial and replacement fibrosis. Cytoplasmatic vacualizations were present in subendocardial myocardiocytes. Electron microscophic examination showed  heart muscle cells with attenuated myofibrils arranged in parallel arrays and separated by a proliferation of several mitochondria (interfibrillar mitochondriasis), with morphologic abnormalities as swollen mitochondria with abnormal cristae and some globular electron-dense material.
DISCUSSION: KSS is a rare disease that belongs to a group of neuromuscular disorders know as mithochondrial encephalomyopathies. Progressive cardiomyopathy is a possible cause of mortality in KSS patients. Rare cases of heart transplant in KSS patients are reported in literature, but they resulted life-saving.
CONCLUSIONS:  In consideration of the multiple organs involvement, the decision for heart transplant in patients affected by mitochondrial encephalomyopathies as treatment option is arguing and should be assessed case-by-case.

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