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T1 Age 18 29 38-year-old T2 Personal_background 30 39 Caucasian T3 Sex 40 43 man T4 Personal_background 47 61 Spanish origin T5 Height 78 84 165 cm T6 Family_history 93 113 parents were cousins T7 Subject 247 254 sisters T8 Detailed_description 239 246 healthy R1 MODIFY Arg1:T8 Arg2:T7 T9 Family_history 219 254 The patient had two healthy sisters T10 Family_history 115 217 Both parents were of normal height and neither showed any minor anomalies of the EvC syndrome spectrum T11 Subject 120 127 parents T12 Detailed_description 136 149 normal height R2 MODIFY Arg1:T12 Arg2:T11 T13 Detailed_description 154 217 neither showed any minor anomalies of the EvC syndrome spectrum R3 MODIFY Arg1:T13 Arg2:T11 T14 Diagnostic_procedure 260 282 morphological features E1 Diagnostic_procedure:T14 T18 Diagnostic_procedure 387 413 cardiothoracic examination E2 Diagnostic_procedure:T18 T21 Sign_symptom 530 551 sensory-motor deficit E3 Sign_symptom:T21 A1 POLARITY E3 NEG T22 Disease_disorder 595 613 mental retardation E4 Disease_disorder:T22 T23 Detailed_description 590 594 mild R10 MODIFY Arg1:T23 Arg2:E4 T24 Diagnostic_procedure 615 631 Genetic analysis E5 Diagnostic_procedure:T24 T25 Subject 795 802 parents T26 Detailed_description 808 829 heterozygous carriers R11 MODIFY Arg1:T26 Arg2:T25 T27 Sign_symptom 702 710 mutation E6 Sign_symptom:T27 T28 Detailed_description 693 701 nonsense T29 Detailed_description 682 692 homozygous R12 MODIFY Arg1:T28 Arg2:E6 R13 MODIFY Arg1:T29 Arg2:E6 T30 Detailed_description 711 740 c.1195 C1T, p.Arg399X of EvC2 R14 MODIFY Arg1:T30 Arg2:E6 T31 Detailed_description 755 786 loss of function of the protein R15 MODIFY Arg1:T31 Arg2:E6 T32 Coreference 837 845 mutation E7 Coreference:T32 R16 IDENTICAL Arg1:E7 Arg2:E6 T33 Date 850 854 1998 E8 Date:T33 T34 Therapeutic_procedure 903 931 atrial septal defect closure E9 Therapeutic_procedure:T34 T35 Biological_structure 889 902 ostium primum R17 MODIFY Arg1:T35 Arg2:E9 T36 Therapeutic_procedure 942 955 midsternotomy E10 Therapeutic_procedure:T36 R18 SUB_PROCEDURE Arg1:E10 Arg2:E9 T37 Clinical_event 960 972 re-presented E11 Clinical_event:T37 T38 Sign_symptom 995 1000 ictus E12 Sign_symptom:T38 T39 Biological_structure 986 994 cerebral T40 Detailed_description 978 985 embolic R19 MODIFY Arg1:T39 Arg2:E12 R20 MODIFY Arg1:T40 Arg2:E12 T41 Date 1004 1008 2007 E13 Date:T41 T42 Therapeutic_procedure 1036 1044 ablation E14 Therapeutic_procedure:T42 T43 Biological_structure 1014 1035 cavotricuspid isthmus R21 MODIFY Arg1:T43 Arg2:E14 T44 Disease_disorder 1056 1070 atrial flutter E15 Disease_disorder:T44 T45 Detailed_description 1049 1055 common R22 MODIFY Arg1:T45 Arg2:E15 T46 Sign_symptom 1121 1133 aftereffects E16 Sign_symptom:T46 A2 POLARITY E16 NEG T47 Severity 1113 1120 serious R23 MODIFY Arg1:T47 Arg2:E16 T48 Diagnostic_procedure 1152 1163 examination E17 Diagnostic_procedure:T48 T49 Date 1167 1171 2012 E18 Date:T49 T50 Sign_symptom 1197 1203 murmur E19 Sign_symptom:T50 T51 Detailed_description 1188 1196 systolic T52 Detailed_description 1175 1187 high-pitched R24 MODIFY Arg1:T51 Arg2:E19 R25 MODIFY Arg1:T52 Arg2:E19 T53 Diagnostic_procedure 1220 1239 Electrocardiography E20 Diagnostic_procedure:T53 T54 Disease_disorder 1279 1304 right bundle branch block E21 Disease_disorder:T54 T55 Disease_disorder 1265 1274 hemiblock E22 Disease_disorder:T55 T56 Lab_value 1247 1259 sinus rhythm R26 MODIFY Arg1:T56 Arg2:E20 T57 Diagnostic_procedure 1312 1328 echocardiography E23 Diagnostic_procedure:T57 T58 Sign_symptom 1340 1347 dilated E24 Sign_symptom:T58 T59 Sign_symptom 1352 1364 hypertrophic E25 Sign_symptom:T59 T60 Biological_structure 1365 1379 left ventricle R27 MODIFY Arg1:T60 Arg2:E25 R28 MODIFY Arg1:T60 Arg2:E24 T61 Sign_symptom 1483 1509 mitral valve regurgitation E26 Sign_symptom:T61 T62 Sign_symptom 1412 1416 flow E27 Sign_symptom:T62 T63 Biological_structure 1426 1463 directed to the left atrial appendage R29 MODIFY Arg1:T63 Arg2:E27 #1 AnnotatorNotes E27 a bit awkward to annotate T64 Diagnostic_procedure 1534 1559 pulmonary artery pressure E28 Diagnostic_procedure:T64 T65 Detailed_description 1525 1533 systolic R30 MODIFY Arg1:T65 Arg2:E28 T66 Lab_value 1564 1571 50 mmHg R31 MODIFY Arg1:T66 Arg2:E28 T67 Sign_symptom 1580 1603 aortic valve was normal E29 Sign_symptom:T67 T15 Sign_symptom 355 366 small chest E30 Sign_symptom:T15 T16 Sign_symptom 442 459 short extremities E31 Sign_symptom:T16 T17 Sign_symptom 469 495 additional postaxial digit E32 Sign_symptom:T17 T19 Detailed_description 465 468 one T20 Biological_structure 499 508 each hand R4 MODIFY Arg1:T19 Arg2:E32 R5 MODIFY Arg1:T20 Arg2:E32 T68 Sign_symptom 293 313 normal mouth opening E33 Sign_symptom:T68 T69 Sign_symptom 319 341 missing lower incisors E34 Sign_symptom:T69 T70 Medication 1636 1644 ramipril E35 Medication:T70 T71 Medication 1646 1656 duloxetine E36 Medication:T71 T72 Medication 1658 1668 alprazolam E37 Medication:T72 T73 Medication 1673 1685 acenocumarol E38 Medication:T73 T74 Therapeutic_procedure 1717 1737 mitral valve surgery E39 Therapeutic_procedure:T74 T75 Therapeutic_procedure 1804 1814 cannulated E40 Therapeutic_procedure:T75 T76 Biological_structure 1779 1799 right femoral artery R6 MODIFY Arg1:T76 Arg2:E40 R8 SUB_PROCEDURE Arg1:E40 Arg2:E39 T77 Therapeutic_procedure 1824 1835 thoracotomy E41 Therapeutic_procedure:T77 R9 SUB_PROCEDURE Arg1:E41 Arg2:E39 T78 Detailed_description 1818 1823 right R32 MODIFY Arg1:T78 Arg2:E41 T79 Biological_structure 1857 1881 fourth intercostal space R33 MODIFY Arg1:T79 Arg2:E41 T80 Therapeutic_procedure 1894 1905 cannulation E42 Therapeutic_procedure:T80 T81 Detailed_description 1886 1893 bicaval R34 MODIFY Arg1:T81 Arg2:E42 R35 SUB_PROCEDURE Arg1:E42 Arg2:E39 T82 Detailed_description 1923 1947 Both veins were excluded R36 MODIFY Arg1:T82 Arg2:E42 T83 Therapeutic_procedure 1983 2005 cardiopulmonary bypass E43 Therapeutic_procedure:T83 T84 Detailed_description 1970 1982 normothermic R37 MODIFY Arg1:T84 Arg2:E43 T85 Detailed_description 2006 2062 without cross-clamping of the aorta in the beating heart R38 MODIFY Arg1:T85 Arg2:E43 R39 SUB_PROCEDURE Arg1:E43 Arg2:E39 T86 Therapeutic_procedure 2088 2134 continuous carbon dioxide (CO2) field flooding E44 Therapeutic_procedure:T86 T87 Detailed_description 2155 2177 CarbonAid CO2 diffuser T88 Detailed_description 2179 2218 Cardia Innovation AB, Stockholm, Sweden R40 MODIFY Arg1:T88 Arg2:T87 R41 MODIFY Arg1:T87 Arg2:E44 T89 Therapeutic_procedure 2246 2265 mitral valve repair E45 Therapeutic_procedure:T89 A3 POLARITY E45 NEG T90 Therapeutic_procedure 2328 2337 implanted E46 Therapeutic_procedure:T90 T91 Detailed_description 2289 2315 bileaflet mechanical valve R42 MODIFY Arg1:T91 Arg2:E46 T92 Detailed_description 2317 2322 no.29 R43 MODIFY Arg1:T92 Arg2:T91 T93 Sign_symptom 2342 2355 complications E47 Sign_symptom:T93 A4 POLARITY E47 NEG T94 Detailed_description 2356 2383 associated with anaesthesia R44 MODIFY Arg1:T94 Arg2:E47 T95 Therapeutic_procedure 2408 2430 postoperative recovery E48 Therapeutic_procedure:T95 T96 Lab_value 2435 2445 uneventful R45 MODIFY Arg1:T96 Arg2:E48 T97 Clinical_event 2457 2467 discharged E49 Clinical_event:T97 T98 Date 2471 2491 postoperative day 10 E50 Date:T98 T99 Clinical_event 2512 2521 follow-up E51 Clinical_event:T99 T100 Duration 2499 2508 two years E52 Duration:T100 T101 Diagnostic_procedure 2523 2539 echocardiography E53 Diagnostic_procedure:T101 T102 Lab_value 2549 2565 optimal function T103 Biological_structure 2573 2585 mitral valve R46 MODIFY Arg1:T103 Arg2:T102 R47 MODIFY Arg1:T102 Arg2:E53 T104 Diagnostic_procedure 2613 2638 pulmonary artery pressure E54 Diagnostic_procedure:T104 T105 Detailed_description 2604 2612 systolic R48 MODIFY Arg1:T105 Arg2:E54 T106 Lab_value 2592 2600 decrease R49 MODIFY Arg1:T106 Arg2:E54 T107 Lab_value 2640 2647 30 mmHg R50 MODIFY Arg1:T107 Arg2:E54 * OVERLAP E1 E33 E34 E30 E2 E31 E32 E3 E4 R7 AFTER Arg1:E4 Arg2:E5 * OVERLAP E5 E6 E7 R51 MODIFY Arg1:E7 Arg2:T25 R52 BEFORE Arg1:E7 Arg2:E8 * OVERLAP E8 E9 R53 BEFORE Arg1:E9 Arg2:E11 * OVERLAP E11 E12 E13 E14 E15 E16 R54 BEFORE Arg1:E16 Arg2:E17 * OVERLAP E17 E18 E19 E20 E22 E21 E23 E24 E25 E27 E26 E28 E29 E35 E36 E37 E38 R55 BEFORE Arg1:E38 Arg2:E39 * OVERLAP E39 E44 R56 BEFORE Arg1:E44 Arg2:E45 * OVERLAP E45 E46 E47 R57 BEFORE Arg1:E47 Arg2:E48 R58 BEFORE Arg1:E48 Arg2:E49 * OVERLAP E49 E50 R59 BEFORE Arg1:E50 Arg2:E52 * OVERLAP E52 E51 R60 BEFORE Arg1:E51 Arg2:E53 * OVERLAP E53 E54