Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM-AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM-AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM-AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature.
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PMID:Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. 2504 Feb 87

Pregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein.
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PMID:Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature. 3052 34

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a newly described entity characterized by autosomal dominantly inherited multifocal capillary malformations caused by RASA1 mutations (CM-AVM1) or EPHB4 mutations (CM-AVM2). Concurrent high-flow vascular anomalies in the brain are often present in the form of intracranial AVM or arteriovenous fistula (AVF). These high-flow lesions are often identified at or soon after birth because of the characteristic unique capillary malformations or a systemic disorder due to a high-flow shunt, such as respiratory distress or heart failure. However, de novo intracranial AVMs have not been reported in patients with CM-AVM syndrome. Herein, we report the case of a six-year-old boy with CM-AVM1 who had been treated for an intracranial pial arteriovenous fistula approximately five years previously, in whom a de novo intracranial AVM was identified on a follow-up angiographic study. To the best of our knowledge, this report is the first to document a de novo intracranial AVM in a patient with CM-AVM. We recommend careful neuroimaging follow-up even if initial neuroimaging screening is negative because of the risk of de novo AVM development.
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PMID:De novo intracranial arteriovenous malformation development after endovascular treatment for a pial arteriovenous fistula in capillary malformation-arteriovenous malformation syndrome. 3263 76