ABSTRACT
OBJECTIVE: The brain arteriovenous malformation (BAVM) nidus compactness score (CS), determined on angiography, predicts BAVM recurrence after surgical resection among children with sporadic BAVMs. We measured the angiographic CS for BAVMs among children with hereditary hemorrhagic telangiectasia (HHT) to determine CS characteristics in this population. METHODS: A pediatric interventional neuroradiologist reviewed angiograms to determine the CS of BAVMs in children with HHT recruited to the BVMC. CS is based on overall nidus and perinidal anomalous vessel compactness. CS categories included 1 = diffuse nidus, 2 = intermediate nidus, and 3 = compact nidus. RESULTS: Forty-eight of 78 children (61.5%) with HHT and brain vascular malformations had a conventional angiogram; 47 (97.9%) angiograms were available. Fifty-four BAVMs were identified in 40 of these 47 children (85.1%). Of 54 BAVMs in children with HHT, CS was 1 in 7 (13%), 2 in 29 (53.7%), and 3 in 18 BAVMs (33.3%) compared with CS of 1 in six (26.1%), 2 in 15 (65.2%), and 3 in 2 BAVMs (8.7%) among 23 previously reported children with sporadic BAVMs, p = 0.045 (Fisher's exact). Seven children with HHT had intracranial hemorrhage: 4 had CS = 3, 1 had CS = 2, and 2 had CS = 1. CONCLUSIONS: A range of CSs exists across HHT BAVMs, suggesting it may be an angiographic measure of interest for future studies of BAVM recurrence and hemorrhage risk. Children with HHT may have more compact niduses compared to children with sporadic BAVMs. Additional research should determine whether CS affects hemorrhage risk or post-surgical recurrence risk in HHT-associated BAVMs, which could be used to direct BAVM treatment.
Subject(s)
Cerebral Angiography , Intracranial Arteriovenous Malformations , Telangiectasia, Hereditary Hemorrhagic , Humans , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging , Telangiectasia, Hereditary Hemorrhagic/epidemiology , Child , Male , Female , Intracranial Arteriovenous Malformations/diagnostic imaging , Intracranial Arteriovenous Malformations/complications , Intracranial Arteriovenous Malformations/surgery , Child, Preschool , Adolescent , InfantABSTRACT
It is unclear whether pulmonary arteriovenous malformations (PAVMs) in hereditary hemorrhagic telangiectasia develop later in life or are preformed in childhood. We show that the prevalence of PAVMs in children is similar to that in their parents, providing evidence against de novo PAVM formation in hereditary hemorrhagic telangiectasia.
Subject(s)
Arteriovenous Malformations/epidemiology , Arteriovenous Malformations/etiology , Pulmonary Artery , Pulmonary Veins , Telangiectasia, Hereditary Hemorrhagic/complications , Adolescent , Adult , Arteriovenous Malformations/genetics , Child , Child, Preschool , Female , Humans , Infant , Male , Parents , Prevalence , Retrospective Studies , Telangiectasia, Hereditary Hemorrhagic/geneticsABSTRACT
OBJECTIVE: To evaluate the utility of transthoracic contrast echocardiography (TTCE) as a screening tool for pulmonary arteriovenous malformations (PAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: This was a single-center study of children who underwent baseline screening for PAVMs using both TTCE and chest computed tomography (CT) for evaluation of HHT. The CT and TTCE results were prospectively reviewed independently by 2 radiologists and 2 cardiologists blinded to the study results. RESULTS: Both intraobserver and interobserver agreement for interpreting TTCE results were excellent (κ = 0.97 and 0.92, respectively) and higher than the interobserver agreement for CT interpretation (κ = 0.75). The sensitivity and specificity of TTCE to predict PAVMs were 1 and 0.82, respectively, and the positive predictive and negative predictive values were 0.39 and 1, respectively. CONCLUSION: TTCE is a sensitive test for PAVMs in children with suspected HHT and can be a useful initial screening tool in pediatric HHT.
Subject(s)
Arteriovenous Malformations/diagnostic imaging , Contrast Media , Echocardiography/statistics & numerical data , Mass Screening/methods , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging , Adolescent , Child , Child, Preschool , Diagnosis, Differential , Echocardiography/methods , Humans , Infant , Infant, Newborn , Male , Predictive Value of Tests , Pulmonary Artery/diagnostic imaging , Pulmonary Veins/diagnostic imaging , Reproducibility of Results , Retrospective Studies , Severity of Illness IndexABSTRACT
OBJECTIVE: To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up. RESULTS: Five children were under age 3 years when PAVM was diagnosed. Presentations included pulmonary symptoms (n = 8), cerebral abscess (n = 2), and transient ischemic attack (TIA) (n = 1); 1 patient was asymptomatic. Nine of the 12 children (75%) had a family history of PAVM. The diagnosis of HHT was confirmed in all cases. A mutation in ENG was found in 9 of the 10 children available for testing. No mutation in ACVRL1 was found. During long-term follow-up (mean, 16 years), the following complications occurred: TIA (n = 2), hemoptysis (n = 2), and cerebral abscess (n = 2). Nine children experienced recurrence of PAVM. The children with no recurrence were those without a family history of PAVM. CONCLUSIONS: The diagnosis of HHT should be considered in a child with an apparently isolated PAVM. Because serious complications may occur at any age, we recommend screening for PAVM and long-term follow-up in children from families with HHT, especially those with an ENG mutation.
Subject(s)
Arteriovenous Malformations/complications , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Telangiectasia, Hereditary Hemorrhagic/complications , Adolescent , Blood Gas Analysis , Child , Child, Preschool , DNA Mutational Analysis , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , MaleABSTRACT
OBJECTIVE: To describe outcomes of transcatheter embolotherapy (TCE) in children with pulmonary arteriovenous malformations (PAVMs). STUDY DESIGN: Chart and imaging review of all children (age