BEUDAMED
    FDA Adverse Event Injury Summary report: N

    PROSTHESIS, RIB REPLACMENT

    MDR report key: 3769799 · Received April 24, 2014

    Report

    Report Number
    2520274-2014-10917
    Event Type
    Injury
    Date Received
    April 24, 2014
    Report Date
    April 10, 2014
    Manufacturer
    SYNTHES (USA)
    Product Code
    MDI
    Adverse Event
    Yes
    Report Source
    Manufacturer report
    Reporter Location
    PA, US
    Reporter Occupation
    OTHER

    Narratives

    Additional Manufacturer Narrative · 1

    DEVICE USED FOR TREATMENT, NOT DIAGNOSIS. ¿EXOME SEQUENCING IDENTIFIES A NOVEL EP300 FRAME SHIFT MUTATION IN A PATIENT WITH FEATURES THAT OVERLAP CORNELIA DE LANGE SYNDROME.¿ WOODS, S.A., ET AL (2014). AMERICAN JOURNAL OF MEDICAL GENETICS, PART A 164:251-258. THIS REPORT IS FOR AN UNKNOWN VEPTR/UNKNOWN LOT. WITHOUT A LOT NUMBER THE DEVICE HISTORY RECORDS REVIEW COULD NOT BE COMPLETED. THE INVESTIGATION COULD NOT BE COMPLETED; NO CONCLUSION COULD BE DRAWN, AS NO PRODUCT WAS RECEIVED. IF INFORMATION IS OBTAINED THAT WAS NOT AVAILABLE FOR THE INITIAL MEDWATCH, A FOLLOW-UP MEDWATCH WILL BE FILED AS APPROPRIATE.

    Description of Event or Problem · 1

    THIS REPORT IS BEING FILED AFTER THE SUBSEQUENT REVIEW OF THE FOLLOWING JOURNAL ARTICLE, ¿EXOME SEQUENCING IDENTIFIES A NOVEL EP300 FRAME SHIFT MUTATION IN A PATIENT WITH FEATURES THAT OVERLAP CORNELIA DE LANGE SYNDROME.¿ WOODS, S.A., ET AL (2014). AMERICAN JOURNAL OF MEDICAL GENETICS, PART A 164:251-258. THE PATIENT WAS A (B)(6) MALE, WHO SINCE BIRTH HAD MULTIPLE COMORBIDITIES. THE AUTHORS FIRST EVALUATED THE PATIENT AT AGE (B)(6) BECAUSE OF SEVERE, PROGRESSIVE, RIGID SCOLIOSIS; TORTICOLLIS; AND PLAGIOCEPHALY. SKELETAL AND CHEST DEFORMITIES CONTINUED TO PROGRESS. AT AGE (B)(6), BILATERAL VERTICAL EXPANDABLE PROSTHETIC TITANIUM RIB (VEPTR) IMPLANTS WERE INSERTED FROM THE PROXIMAL RIBS TO THE PELVIS, FOR TREATMENT OF THE SEVERE SCOLIOSIS AND THORACIC INSUFFICIENCY SYNDROME. A PRE-OPERATIVE CT SCAN SHOWED NEAR HORIZONTAL ALIGNMENT OF THE LOWER THORACIC SPINE, FUSION OF THE C5¿C6 VERTEBRAL BODIES, A HEMIVERTEBRA ASSOCIATED WITH THE SIXTH RIB, AND ABSENCE OF THE POSTERIOR ELEMENTS BEGINNING AT L5 AND CONTINUING INFERIORLY TO THE SACRUM. PRE-OPERATIVE BLOOD WORK REVEALED A PROLONGED APTT. EXTENSIVE MOLECULAR, ENZYMATIC, AND FUNCTIONAL COAGULOPATHY TESTING REVEALED A MATERNALLY INHERITED NOVEL FACTOR VIII C.5381T>A VARIANT PREDICTED TO BE DELETERIOUS. FACTOR VIII REPLACEMENT WAS PROVIDED FOR THE VEPTR EXPANSION SURGERY. THIS SURGERY WAS FOLLOWED BY A CHRONIC MRSA INFECTION AND POOR WOUND HEALING, REQUIRING REMOVAL OF THE RIGHT VEPTR. THE PATIENT DIED UNEXPECTEDLY AT HOME AT AGE (B)(6). A DETAILED AUTOPSY WAS PERFORMED, AND DEATH WAS ATTRIBUTED TO SEVERE BRONCHOPNEUMONIA, A PROBABLE COMPLICATION OF THE SEVERE SKELETAL DEFORMITY. AUTOPSY RESULTS REVEALED (IN ADDITION TO THE PREVIOUSLY RECOGNIZED DYSMORPHIC FEATURES, ADVANCED SCOLIOSIS AND GROWTH RETARDATION) FETAL LOBULATION OF THE RENAL CORTICAL SURFACES, COMPLEX AND ATYPICAL LOBATION OF THE LUNGS, MALROTATION OF THE BOWEL, AND MISALIGNMENT OF THE FEMORAL HEADS WITH ABNORMAL ENDOCHONDRAL OSSIFICATION. EXAMINATION OF THE ABDOMINAL CAVITY SHOWED THE MESENTERIC ROOT TO BE NOTABLY NARROWED AND DISPLACED TO THE LEFT UPPER ABDOMINAL QUADRANT. THE CECUM, ASCENDING COLON, AND TRANSVERSE COLON WERE ATTACHED TO A COMMON SMALL INTESTINAL MESENTERY. THE BOWEL WAS ENTIRELY POSITIONED WITHIN THE LEFT ABDOMINAL CAVITY, WHILE THE LIVER OCCUPIED THE RIGHT ABDOMINAL CAVITY. ALTHOUGH THE BOWEL WAS EXTREMELY UNSTABLE ON THE NARROW MESENTERIC ROOT, THERE WAS NO EVIDENCE OF INTESTINAL TORSION, OBSTRUCTION, OR INFARCT. THE PLEURAL CAVITIES HAD NOTABLE DEFORMITY DUE TO THE ADVANCED SCOLIOSIS. NEUROPATHOLOGICAL STUDY SHOWED NORMAL CORTICAL THICKNESS AND NORMALLY MYELINATED WHITE MATTER. THE HIPPOCAMPUS AND CEREBRAL CORTEX HAD NORMAL NEURONAL DENSITY AND CYTOARCHITECTURE. THERE WERE PYKNOTIC NEURONS AT CA1 OF THE HIPPOCAMPUS, SUGGESTING TERMINAL HYPOXIA¿ISCHEMIA. THE BASAL GANGLIA, THALAMUS, PONS, AND CEREBELLUM WERE NORMAL. THIS REPORT IS FOR AN UNKNOWN VEPTR CONSTRUCT. A COPY OF THE JOURNAL ARTICLE IS BEING SUBMITTED WITH THIS MEDWATCH.

    Devices

    Seq Brand Generic Product Code Manufacturer Model Lot UDI-DI
    250209 PROSTHESIS, RIB REPLACMENT MDI SYNTHES (USA)

    Patients

    Seq Age Sex Outcome Treatment
    1 4 YR Required Intervention