1/14. Aortic root dilation in apparent Lujan-Fryns syndrome.We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/14. Clinical considerations in the chiropractic management of the patient with marfan syndrome.OBJECTIVE: To describe the chiropractic management of a patient with whiplash-associated disorder and a covert, concomitant dissecting aneurysm of the thoracic aorta caused by marfan syndrome or a related variant. CLINICAL FEATURES: A 25-year-old man was referred by his family physician for chiropractic assessment and treatment of neck injuries received in a motor vehicle accident. After history, physical examination, and plain film radiographic investigation, a diagnosis of whiplash-associated disorder grade I was generated. INTERVENTION AND OUTCOME: The whiplash-associated disorder grade I was treated conservatively. Therapeutic management involved soft-tissue therapy to the suspensory and paraspinal musculature of the upper back and neck. Rotary, manual-style manipulative therapy of the cervical and compressive manipulative therapy of the thoracic spinal column were implemented to maintain range of motion and decrease pain. The patient achieved full recovery within a 3-week treatment period and was discharged from care. One week after discharge, he underwent a routine evaluation by his family physician, where an aortic murmur was identified. Diagnostic ultrasound revealed a dissecting aneurysm measuring 78 mm at the aortic root. Immediate surgical correction was initiated with a polyethylene terephthalate fiber graft. The pathologic report indicated that aortic features were consistent with an old (healed) aortic dissection. There was no evidence of acute dissection. Six month follow-up revealed that surgical repair was successful in arresting further aortic dissection. CONCLUSION: The patient had an old aortic dissection that pre-dated the chiropractic treatment (which included manipulative therapy) for the whiplash-associated disorder. Manipulative therapy, long considered an absolute contraindication for abdominal and aortic aneurysms, did not provoke the progression of the aortic dissection or other negative sequelae. The cause, histology, clinical features, and management considerations in the treatment of this patient's condition(s) are discussed.- - - - - - - - - - ranking = 3.6853000806235keywords = physical examination, physical (Clic here for more details about this article) |
3/14. Marfanoid habitus, dysmorphic features, and web neck.Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, web neck, and intellectual impairment. He had physical features suggestive of Shprintzen-Goldberg syndrome. We review the common characteristics of Marfan and Shprintzen-Goldberg syndromes and compare them with our case. physicians should beware of potential cardiovascular abnormalities in patients with marfanoid habitus and dysmorphic features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/14. Coexistent Marfan's syndrome and ankylosing spondylitis: a case report.We report on a 46-year-old man with a 4-year history of predominantly nocturnal pain at the thoracic and lumbar spine as well as accompanying morning stiffness and episodes of alternating buttock pain. At physical examination the patient presented with the typical traits for Marfan's syndrome (MFS), along with limitation of both chest expansion and movement in all planes of the lumbar spine. Pelvic and lumbar spine radiographs showed findings consistent with ankylosing spondylitis (AS). Laboratory tests were consistent with an inflammatory state and HLA typing was positive for the B27 antigen. Transthoracic echocardiography showed prolapse of the posterior mitral leaflet and mild aortic insufficiency. We diagnosed co-existent MFS and AS. The association of these two pathologies is particularly interesting, owing to the co-existence of hypermobility of peripheral joints due to MFS ligamentous hyperlaxity, and the reduction of both axial skeleton motility and chest expansion related to AS. As both of these diseases may damage the cardiovascular system over time, follow-up with echocardiography monitoring is indispensable.- - - - - - - - - - ranking = 3.6853000806235keywords = physical examination, physical (Clic here for more details about this article) |
5/14. Preserved neurobehavioral abilities in Lujan-Fryns syndrome.We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/14. Cardiovascular manifestations in marfan syndrome.INTRODUCTION: Cardiovascular complications are the major cause of morbidity and mortality in marfan syndrome (MS), a common connective tissue disorder. Currently it is considered that the prognosis and morphologic characteristics in infantile marfan syndrome may be quite different from those reported in older patients. The objective of this study was to analyze the cardiovascular manifestations and evolution of the patients with marfan syndrome followed at our pediatric cardiac unit. methods: The authors reviewed the clinical files of all the patients that fulfilled the diagnostic criteria for MS according to De Paepe et al. (1996). We analyzed the following parameters: gender, age at referral, race, family history, clinical examination, diagnostic exams, therapy and evolution. The patients were divided into two groups according to the age at diagnosis: infants (group 1) and older patients (group 2). RESULTS: Group 1 included 3 infants, two boys and one girl, sporadic cases, presenting congestive heart failure. The major cardiac diagnoses were aortic dilatation (1/3) and mitral valve prolapse with severe mitral regurgitation (2/3). Congenital heart disease was associated in two cases (patent ductus arteriosus and atrial septal defect). Two needed cardiac surgery at an early age and one was recently proposed for surgery. There were no deaths. Group 2 included 20 patients, 14 boys and 6 girls, first seen at a mean age of 8 years. Ten had a positive family history and none presented cardiac symptoms. The major cardiac manifestations were mitral valve prolapse (18/20) and aortic dilatation (17/20). There was no significant progression of the cardiac lesions, except for one case, during the 12 years of follow-up. CONCLUSION: Infantile MS presented high morbidity; mitral regurgitation was severe in two cases. All patients presented heart failure, two needing early operations. In classic MS evolution was favorable, and the commonest cardiac lesions were mitral valve prolapse and aortic dilatation. We emphasize the need for beta-blockers to prevent progression of aortic dilatation. The decision for surgery rests upon the severity of valve regurgitation and the rate of progression of aortic dilatation. It is important to inform patients and family about physical exercise, prevention of endocarditis, risks associated with pregnancy and genetic counseling.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/14. Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Other vascular abnormalities in the proband included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. We believe that the proband's physical anomalies are best described by the PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) phenotypic spectrum. This spectrum of physical anomalies also includes sternal clefting and hemagiomas as part of the sternal malformation/vascular dysplasia (SM/VD) association, as found in our patient, and the acronym PHACES has also been used. We consider that the PHACE phenotypic spectrum is likely to be broader than previously recognized and includes orofacial clefting and aortic dilatation and rupture. Our patient also had skeletal anomalies that lead to consideration of marfan syndrome as a diagnosis. It should be recognized that there is clinical overlap between PHACE syndrome and marfan syndrome when aortic dilatation is present. We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
8/14. ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity. While the disorder is similar to marfan syndrome, it was split from it due to the distinct physical appearance of the patients and, more importantly, the lack of heart and eye findings. Since the original report, several CCA patients have been found to have mitral valve prolapse, structural cardiac anomalies, and occasionally aortic root dilatations similar to those seen in marfan syndrome. We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation. Our review of the literature of CCA showed that serial echocardiography and careful eye examinations have not become a standard of medical practice in this condition. Partly this may be due to a lack of documented cases of CCA having severe ectopia lentis and cardiac complications. This patient underscores the need for periodic eye and echocardiographic evaluations of all CCA patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/14. Large ascending aortic aneurysm and severe aortic regurgitation in a 7-year-old child with marfan syndrome and a review of the literature. marfan syndrome in childhood.A 7-year-old girl was admitted because of dyspnea on exertion and palpitations. Her symptoms had gradually worsened for the last 6 months. She had physical features of the marfan syndrome. Transthoracic echocardiography showed an ascending aortic aneurysm, severe aortic regurgitation, and mildly dilated left ventricle. Because of marked aortic aneurysm and severe aortic regurgitation, the patient was treated with a beta-blocker and an angiotensin converting enzyme inhibitor. Surgery was refused by her parents. We describe here a child with marfan syndrome in whom significant dilatation of the ascending aorta and severe aortic regurgitation is encountered and major cardiovascular complications of marfan syndrome were reviewed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/14. Orthostatic blood pressure control in Marfan's syndrome.A 33-year old male patient, with Marfan's syndrome, reported symptoms of orthostatic intolerance and fatigue as a longstanding problem. Orthostatic cardiovascular examination showed poor orthostatic tolerance, with a rise in heart rate and a fall in arterial blood pressure and cerebral blood flow velocity. Self-discovered physical counterpressure manoeuvers improved symptoms, related to a substantial increase in arterial pressure and cerebral perfusion. When orthostatic complaint are reported by patients with Marfan's syndrome, physical counterpressure manoeuvers should be advised to reduce symptoms of postural hypotension.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
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