Anesthetic Considerations in Patients with Heritable Connective Tissue Disorders
Ahmed El Sayed Ahmed Mohamed El Shafeey;
Abstract
SUMMARY
H
eritable connective tissue disorders are a group of diseases that affect the connective tissue and they are inherited in it's nature. Heritable connective tissue disorders include Marfan syndrome, Ehler Danlos syndrome, osteogenesis imperfecta and congenital contractural arachnodactyly. As this group of diseases is inherited and genetic in its nature and they affect the connective tissue, they have a lot of similar clinical manifestations and have nearly the same way of management.
In Marfan syndrome, patients have disproportionately long limbs (span > height) and digits or reduced upper to lower segment ratio, pectus excavatum or carinatum, scoliosis, highly arched palate with dental crowding, ectopia lentis, dilatation of the aortic root with regurgitation, aortic aneurysm and/or dissection, skin striae and dural ectasia.
Congenital contractural arachnodactyly (C C A) is a rare autosomal dominant disease affecting multiple family members. Patients complain of inability to open the mouth (most likely due to masseteric fibrous bands and coronoid hyperplasia, which lead to molding deformities and developmental hypoplasia of the bones of mandible), flexion contractures of the fingers (apparent on dorsiflexion), with facial dysmorphism in the form of macrocephaly, facial asymmetry, downslanting palpebral fissures, micrognathia, long philtrum, low set ears, arachnodactyly, and chest wall deformities.
Ehler Danlos syndrome is characterized by easy bruising (typically the initial manifestation), bleeding from the gums following brushing of the teeth, or excessive bleeding after minor trauma are common presentations. It's also charachterized by joint hyper mobility, skin hyper extensibility, general connective tissue fragility, delayed wound healing, atrophic scarring and cardiovascular manifestations ranging from no apparent lesion to arterial aneurysms, arterial rupture without aneurysm, varicose veins, aortic regurgitation, mitral valve prolapse and conduction disturbances. Floppy mitral valve syndrome and the combination of mitral and tricuspid insufficiency due to redundant chordae tendinae or valve cusps have been reported.
Osteogenesis imperfecta disease is charachterized by weak and brittle bone which is easily fractures with any minor trauma or vigorous movement. The patients also complain of dentinogenesis imperfecta, bone malformations, easy bruising, laxity of joints, gross delayed motor development, pulmonary problems and congenital heart diseases.
Anesthetic management of this group of disorders include preoperative assessment, indications of surgical intervention, preoperative medical history, preoperative labs and investigations and intraopertive anesthetic management including assessment of the airway, choice of anesthesia, positioning, management of intraoperative complications and also the postoperative managent and care of this patients including their monitoring in post anesthesia care unit (PACU) or in intensive care unit (ICU), fluid therapy, blood transfusion, pain control, nutrition and management of postoperative complications.
H
eritable connective tissue disorders are a group of diseases that affect the connective tissue and they are inherited in it's nature. Heritable connective tissue disorders include Marfan syndrome, Ehler Danlos syndrome, osteogenesis imperfecta and congenital contractural arachnodactyly. As this group of diseases is inherited and genetic in its nature and they affect the connective tissue, they have a lot of similar clinical manifestations and have nearly the same way of management.
In Marfan syndrome, patients have disproportionately long limbs (span > height) and digits or reduced upper to lower segment ratio, pectus excavatum or carinatum, scoliosis, highly arched palate with dental crowding, ectopia lentis, dilatation of the aortic root with regurgitation, aortic aneurysm and/or dissection, skin striae and dural ectasia.
Congenital contractural arachnodactyly (C C A) is a rare autosomal dominant disease affecting multiple family members. Patients complain of inability to open the mouth (most likely due to masseteric fibrous bands and coronoid hyperplasia, which lead to molding deformities and developmental hypoplasia of the bones of mandible), flexion contractures of the fingers (apparent on dorsiflexion), with facial dysmorphism in the form of macrocephaly, facial asymmetry, downslanting palpebral fissures, micrognathia, long philtrum, low set ears, arachnodactyly, and chest wall deformities.
Ehler Danlos syndrome is characterized by easy bruising (typically the initial manifestation), bleeding from the gums following brushing of the teeth, or excessive bleeding after minor trauma are common presentations. It's also charachterized by joint hyper mobility, skin hyper extensibility, general connective tissue fragility, delayed wound healing, atrophic scarring and cardiovascular manifestations ranging from no apparent lesion to arterial aneurysms, arterial rupture without aneurysm, varicose veins, aortic regurgitation, mitral valve prolapse and conduction disturbances. Floppy mitral valve syndrome and the combination of mitral and tricuspid insufficiency due to redundant chordae tendinae or valve cusps have been reported.
Osteogenesis imperfecta disease is charachterized by weak and brittle bone which is easily fractures with any minor trauma or vigorous movement. The patients also complain of dentinogenesis imperfecta, bone malformations, easy bruising, laxity of joints, gross delayed motor development, pulmonary problems and congenital heart diseases.
Anesthetic management of this group of disorders include preoperative assessment, indications of surgical intervention, preoperative medical history, preoperative labs and investigations and intraopertive anesthetic management including assessment of the airway, choice of anesthesia, positioning, management of intraoperative complications and also the postoperative managent and care of this patients including their monitoring in post anesthesia care unit (PACU) or in intensive care unit (ICU), fluid therapy, blood transfusion, pain control, nutrition and management of postoperative complications.
Other data
| Title | Anesthetic Considerations in Patients with Heritable Connective Tissue Disorders | Other Titles | الإعتبارات التخديرية في المرضى الذين يعانون من اضطرابات النسيج الضام الوراثية | Authors | Ahmed El Sayed Ahmed Mohamed El Shafeey | Issue Date | 2015 |
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