Mitral Valve Prolapse and out-of-hospital cardiac arrest: A case report
and literature review.
Abstract
We present the case of a 44-year-old woman who suffered an out of
hospital cardiorespiratory arrest. After six direct current shocks and
10 minutes of cardiopulmonary resuscitation she had return of
spontaneous circulation and regained consciousness. Transthoracic
echocardiography showed normal left ventricular ejection fraction and a
mildly dilated left atrium. The mitral valve was thickened with
myxomatous degeneration (Barlow’s disease) and moderate regurgitation
secondary to bi-leaflet prolapse. Cardiac catheterization showed no
coronary artery disease while left ventriculography revealed a mildly
dilated left ventricle with preserved systolic function and high-end
diastolic pressures. Cardiac MRI revealed an enlarged left ventricle
with mitral valve (MV) prolapse and moderate to severe mitral
regurgitation (MR). There were no features suggestive of a specific
cardiomyopathy other than her valvular heart disease. The patient had an
uneventful hospitalization, received an implantable cardioverter
defibrillator (ICD), and eventually had MV repair surgery. A genetic
investigation revealed two DNA variants, one each in the MYPN and TMPO
gene, substitutions of highly conserved aminoacid residues. Family
segregation could not establish unequivocally their pathogenicity
although the MYPN variant represents the same residue that was shown
previously to be substituted by another aminoacid. In this article we
also review the literature regarding similar cases and record important
data for the epidemiology of the disease and the important research that
has been carried out in the identification of prognostic imaging factors
and the genetic background of these patients.