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+The patient was a 38-year-old Caucasian man of Spanish origin.
+His height was 165 cm and his parents were cousins.
+Both parents were of normal height and neither showed any minor anomalies of the EvC syndrome spectrum.
+The patient had two healthy sisters.
+His morphological features were: (a) normal mouth opening with missing lower incisors (Fig.1); (b) small chest, as determined by a cardiothoracic examination; and (c) disproportionately short extremities with one additional postaxial digit on each hand (Fig.2).
+Although no sensory-motor deficit was noted, the patient presented with mild mental retardation.
+Genetic analysis in his early infancy showed a previously reported homozygous nonsense mutation c.1195 C1T, p.Arg399X of EvC2, resulting in loss of function of the protein.(5) His parents were heterozygous carriers of the mutation.
+In 1998, the patient underwent successful ostium primum atrial septal defect closure through a midsternotomy.
+He re-presented with embolic cerebral ictus in 2007, and cavotricuspid isthmus ablation for common atrial flutter was performed successfully.
+There were no serious aftereffects.
+During a routine examination in 2012, a high-pitched systolic murmur was discovered.
+Electrocardiography showed sinus rhythm with hemiblock and right bundle branch block, while echocardiography revealed a dilated and hypertrophic left ventricle.
+These abnormalities produced a flow that was directed to the left atrial appendage, leading to severe mitral valve regurgitation.
+The patient’s systolic pulmonary artery pressure was 50 mmHg and his aortic valve was normal.
+His medical treatment included ramipril, duloxetine, alprazolam and acenocumarol.
+The patient was scheduled for mitral valve surgery.
+In the operating theatre, the patient’s right femoral artery was cannulated.
+A right thoracotomy was performed on the fourth intercostal space and bicaval cannulation was established.
+Both veins were excluded.
+The operation used a normothermic cardiopulmonary bypass without cross-clamping of the aorta in the beating heart.
+To avoid air embolisms, continuous carbon dioxide (CO2) field flooding was applied using a CarbonAid CO2 diffuser (Cardia Innovation AB, Stockholm, Sweden).
+The attempt to perform a mitral valve repair was unsuccessful and a bileaflet mechanical valve (no.29) was implanted.
+No complications associated with anaesthesia occurred.
+The patient’s postoperative recovery was uneventful and he was discharged on postoperative day 10.
+After two years of follow-up, echocardiography revealed optimal function of the mitral valve and a decrease in systolic pulmonary artery pressure (30 mmHg).