1/10. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal marfan syndrome.The marfan syndrome is an autosomal dominant heritable disorder of connective tissue that involves principally the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum, the neonatal marfan syndrome (nMFS), is characterized by pronounced atrioventricular valve dysfunction, and death often occurs within the first year of life due to congestive heart failure. Mutations in the gene coding for fibrillin-1, FBN1, are known to cause marfan syndrome, and have been identified in almost all exons of FBN1. Here, we describe a novel mutation affecting the invariant 1 position of the splice donor site in intron 31, associated with skipping of exon 31, in a patient with nMFS. Published reports of nMFS are reviewed and a strict definition for nMFS is suggested. If this definition is used, all nMFS mutations reported to date lie in one of two hot spots, comprising mainly missense mutations in FBN1 exons 24-27 and mutations causing skipping of exon 31 or 32.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
2/10. Arch-first technique used with commercial T-graft to treat subacute type-A aortic dissection in patient with marfan syndrome.Staged repair of extensive thoracic aortic aneurysms puts certain patients at risk of rupture. We report the case of a patient with marfan syndrome who presented with subacute type-A aortic dissection and a large descending aortic aneurysm. We used the arch-first technique with a commercially available Dacron T-graft. A clamshell incision was used for exposure. A button of arch vessels was anastomosed to the T-graft. Antegrade cerebral perfusion was established through the side branch. The distal end of the graft was anastomosed to the descending aorta and the proximal end to a composite graft. The duration of cerebral ischemia was 30 minutes; antegrade cerebral perfusion lasted 52 minutes. The patient experienced no neurologic dysfunction and was discharged with no major deficit. This technique shortens brain-ischemia time and is a good option if the risk of rupture of the descending component of an extensive thoracic aortic aneurysm is high. To the best of our knowledge, this is the 1st reported case in which the arch-first technique has been used with a commercially available T-graft to treat subacute type-A aortic dissection in a patient with marfan syndrome.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
3/10. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.Neonatal marfan syndrome, the most severe presentation of marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema. death usually occurs within the first 2 years of life from congestive heart failure. We describe here a newborn male with many typical characteristics of neonatal marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation. He died from cardiac failure due to severe tricuspid and mitral regurgitation at 62 h of age. CONCLUSION: Molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
4/10. Mitochondrial dysfunction in a patient with Joubert syndrome.Joubert syndrome is a genetically heterogeneous disorder. The diagnostic criteria include episodic hyperventilation, abnormal eye movements, psychomotor retardation, hypotonia, ataxia, and the characteristic neuro-imaging findings (molar-tooth sign). Many of these clinical features have been observed in new-borns with mitochondrial disorders as well. Congenital brain malformations, including cerebellar hypoplasia, have been described in pyruvate dehydrogenase deficiency. Malformations of the vermis and the cerebellar peduncles, with the lack of axonal decussations, however, are characteristic for Joubert syndrome but unique in patients with mitochondrial disorders. Here, we describe a child with Joubert syndrome presenting with primary lactic acidemia, decreased pyruvate oxidation rates, decreased ATP production, and a mildly decreased pyruvate dehydrogenase complex activity measured in a fresh muscle biopsy. sequence analysis of the PDHc E1 alpha gene and the PDHX genes revealed no mutations. The patient received continuous feeding through a feeding tube for two years and showed a significant clinical improvement with a complete resolution of the chronic lactic acidemia. A second muscle biopsy revealed significantly decreased pyruvate oxidation rates and ATP production, but a normal pyruvate dehydrogenase complex activity. We suggest that the described mitochondrial dysfunction in our patient is secondary to an underlying mutation leading to Joubert syndrome.- - - - - - - - - - ranking = 5keywords = dysfunction (Clic here for more details about this article) |
5/10. Congenital aortic regurgitation: natural history and management.OBJECTIVES AND BACKGROUND. Congenital aortic regurgitation is rare as an isolated lesion. We describe seven children with no physical features of the marfan syndrome in the patients or their families and no other cardiac lesions who had congenital valvular aortic regurgitation. methods. From 1954 to the present, seven children with auscultatory and physiologic characteristics of aortic regurgitation were evaluated for a total of 108 patient-years. We report on their natural history, clinical and laboratory findings, management and outcome. RESULTS. In five of the seven children congenital aortic regurgitation was diagnosed in infancy. In four, progressive severity of the regurgitation led to valve replacement at age 3, 10, 15 and 20 years, respectively, and to resection of an aneurysm of the ascending aorta in the 10-year old patient. Two patients had cystic medial necrosis on aortic biopsy. One of these patients died after reoperation for dissecting aneurysm of the thoracic aorta at 22 years of age; the other died after dissection and rupture of the ascending aorta at age 25 years. After obstructing pannus developed, the 3-year old patient underwent replacement of the St. Jude valve at age 10 years. The other three patients were asymptomatic at last follow-up at age 8, 10 and 20 years, respectively. CONCLUSIONS. Supportive management is recommended until it becomes necessary to intervene surgically when regurgitation becomes severe. The need for surgical treatment is indicated by the appearance of a diastolic thrill, left ventricular strain on the electrocardiogram or other evidence of left ventricular dysfunction on the echocardiogram or exercise stress testing by treadmill or radionuclide cineangiocardiography. Close follow-up of these patients is important to detect progression of aortic regurgitation, especially in the presence of cystic medial necrosis.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
6/10. Marfan's syndrome, recurrent complex partial status epilepticus and myoclonus: a case report.A 26 year-old mentally retarded woman suffering from Marfan's syndrome and epileptic seizures presented weekly recurrent complex partial status epilepticus for two years, and myoclonus at rest. A marked increase of the myoclonic jerks and transient signs of cerebellar dysfunction followed each occurrence of the status epilepticus. myoclonus could be interpreted as: 1) a permanent neurologic consequence of primary CNS disorders or secondary to disorders of the connective tissue, 2) a persistent post-ictal sequela sustained by recurrence of complex partial status, or 3) an additional consequence of both brain disorders due to Marfan's syndrome and recurrence of complex partial status epilepticus. The case report raises the possibility that recurrence of complex partial status for a long period may be a risk factor of permanent neurologic deficit, especially in already brain damaged patients.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
7/10. Marfan's syndrome with 47,XXX genotype and possible immunologic abnormality.A 2-year-old girl with Marfan's syndrome also had recurrent episodes of upper respiratory infection, otitis media, tonsillitis, and asthma. Chromosomal study revealed the karyotype 47,XXX. Immunologic evaluation showed lack of delayed hypersensitivity skin test response despite previous exposure. The coincidence of Marfan's syndrome and either XXX or immunologic dysfunction has not been reported previously. This case clearly illustrates that more than one abnormality may occur in a single patient.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
8/10. Pulmonary dysfunction secondary to mandibular retrognathia in Marfan's syndrome.Referrals to pulmonary physicians for polysomnography to evaluate snoring or the possibility of sleep apnea syndrome often evolve into a multidisciplinary clinical problem. We present a young woman with two congenital abnormalities (Marfan's syndrome and retrognathism) which both may affect her decreased exercise tolerance, daytime hypersomnolence, and fatigue. polysomnography and pulmonary exercise testing documented improvement in her upper airway diameter and exercise capacity. Her improved sleep pattern and her understanding of her exercise performance limitations afforded her a new outlook on life.- - - - - - - - - - ranking = 4keywords = dysfunction (Clic here for more details about this article) |
9/10. Surgical treatment of aortic root aneurysm related to marfan syndrome in early childhood.The prognosis of marfan syndrome in both adult and pediatric patients is primarily related to the cardiovascular complications. In infantile marfan syndrome, although involvement of the mitral valve is the most frequently encountered cardiovascular lesion, the aortic root can be more worrisome because of its excessive dilatation, leading to aortic insufficiency or dissection. If the role of elective surgery is relatively well defined for adult patients, it is still debated during childhood. We report two patients, aged 22 months and 5 years, each presenting an aortic root aneurysm related to marfan syndrome, and each treated with the Bentall procedure without specific age-related mortality or morbidity. These two patients experienced normal growth and were free of any complication for a follow-up period of 8 and 2 years, respectively. More than an absolute value of the aortic root dimension, it is the conjunction of the rate of progression of the aortic root dilatation, the degree and the duration of the aortic valve regurgitation, and its resulting left ventricular dysfunction that must be taken into consideration in choosing the surgical option.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
10/10. Bentall operation, total aortic replacement and mitral valve replacement for a young adult with marfan syndrome: a case of three-staged operation.In marfan syndrome, the most common cardiovascular abnormalities are dilatation of the aorta and aortic valve regurgitation in adult patients. mitral valve dysfunction is the most common cause of morbidity and mortality in infants and children with marfan syndrome, and is not frequently operated on in adult Marfan patients who undergo surgery for diseases of the aortic root and total aorta. This report describes a successfully three-staged operation for a 24 year-old man with marfan syndrome who underwent an emergent Bentall operation and aortic arch replacement, total aortic replacement and mitral valve replacement over 2 years. mitral valve regurgitation was mild but increased after the second operation. The graft was tightly adhesive and invasive to the sternum. Endoscopic view was helpful to avoid graft damage at resternotomy. The postoperative course was uneventful in each operation. Microscopic examination of the mitral valve leaflets showed abnormal increase of mucopolysaccharides, and disruption and fragmentation of elastic fibers.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
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