26106249 Visualization

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