Assuntos
Síndrome de Ehlers-Danlos Tipo IV , Síndrome de Ehlers-Danlos , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Mutação , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico por imagemRESUMO
Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left anterosuperior branch, and the chest x-ray showed an excavated pulmonary trunk with normal pulmonary flow.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Aorta Torácica/anormalidades , Síndrome de Ehlers-Danlos/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Angiografia , Aorta Abdominal/anormalidades , Aorta Abdominal/diagnóstico por imagem , Aorta Torácica/diagnóstico por imagem , Seguimentos , Humanos , Recém-Nascido , Masculino , Artéria Pulmonar/diagnóstico por imagem , UltrassonografiaRESUMO
One hundred and twenty patients with arterial hypertension and 3 cases of fibromuscular displasia of the renal arteries (FDRA) (group D) were studied; besides the usual arterial hypertension work up, a search of Ehlers-Danlos syndrome stigmata was carried out in all patients. The population of 120 hypertensive patients were classified in 3 groups: group A, fromed by 104 subjects without EDS stigmata; group B, constitued by 7 cases with hypermobility of one to three metar-carpophalangic joints and group C in which 9 subjects with hipermobility of more than 3 metacarpophalangic joints were included. Neither case of groups A and B showed arteriographic signs of FDRA. In 4 cases of group C there were arteriographic evidence of FDRA (3.3% of the whole population) and stigmata of SED (2 cases with skin biopsy positive for this entity). Two cases of group D showed stigmata of SED and a positive skin biopsy; the other case had a normal histology of skin and no clinical signs of SED. The presence of SED stigmata in a patient with arterial hypertension should alert the clinician in the diagnosis of FRDA; in such a case it is recommended that a renal arteriography be performed. In this paper similarities of SED of the arterial type and some cases of FDRA are remarked and it is proposed the both entities share the same or a very closed molecular collagen defect.