Enfoque anestésico para trasplante cardiaco en un paciente con distrofia muscular de Emery-Dreyfuss: informe de caso / Heart transplant anesthetic approach in a patient with Emery Dreyfuss muscular dystrophy: A case report

La distrofia muscular de Emery-Dreifuss está asociada a anomalías cardiacas, pudiendo ser el trasplante cardiaco el tratamiento de elección en ciertos casos raros. En este caso, un paciente con distrofia muscular de Emery-Dreifuss desarrolló insuficiencia cardiaca de clase IV de NYHA a los 33 años de edad, y fue sometido a trasplante cardiaco. Se adaptó la anestesia para prevenir el desarrollo de hipertermia maligna y rabdomiólisis. La cirugía fue exitosa, y el paciente progresó de manera excelente con mejora sintomática. En estos casos, es esencial ajustar, no solo el posicionamiento del paciente, sino también la terapia administrada, a fin de reducir la iatrogenia y acelerar la recuperación. (AU)

Emery-Dreifuss muscular dystrophy is associated with cardiac abnormalities and rarely heart transplantation may be the treatment of choice. In this case, a male patient with Emery- Dreifuss muscular dystrophy developed NYHA class IV heart failure at 33 years of age and was submitted to heart transplantation. Anesthesia was adapted to prevent the development of malignant hyperthermia and rhabdomyolysis. The surgery was a success and the patient's progress was extremely positive with symptomatic improvement. In these patients, is critical to adjust not only his positioning but also the therapy administered in order to reduce iatrogeny and promote a faster recovery. (AU)

Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy. In the present study we present two patients with Emery-Dreifuss muscular dystrophy and severe upper extremity contractures treated successfully with contracture release and musculotendinous lengthenings. For each of these patients a chart review was carried out and surgical technique reviewed. Patient 1 demonstrated elbow flexion contractures of 65° (right) and 60° (left) preoperatively and ∼45° (right) and 20° (left) postoperatively. Patient 2 demonstrated flexion contractures of 75° bilaterally preoperatively and 45° bilaterally postoperatively. For more severe elbow contractures, surgical treatment resulted in improved range of motion without a significant sacrifice of strength, allowing these patients to remain independent.

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest. There were two transplants. Pathological study of explanted heart showed fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting EDMD. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an FHL-1 disorder in X-linked cardiomyopathy.

Mortality and morbidity associated with correction of severe cervical hyperextension.

STUDY DESIGN: Three case reports of patients with treatment of severe cervical hyperextension. OBJECTIVE: Cervical hyperextension is a rare spine deformity that is associated with myopathies. Previous reports of surgical correction have reported no major operative complications. This report outlines our experience with 3 patients who experienced significant complications. SUMMARY OF BACKGROUND DATA: The limited literature on the treatment of cervical hyperextension has good to excellent outcomes. METHODS: Three case reports are presented. RESULTS: Three cases with severe cervical hyperextension with intraoperative correction had associated morbidity and mortality. One case had a failed intubation requiring tracheotomy. This was followed by a successful posterior release with halo traction for 2 weeks and then an instrumented posterior cervical fusion. This patient died at home 2 weeks after surgery. The second and third cases had an intraoperative spinal cord injury during a posterior release for cervical hyperextension. CONCLUSION: Patients with severe cervical hyperextension have high neurologic perioperative risk.