Prevalence of Pulmonary Arteriovenous Malformations in Children versus Adults with Hereditary Hemorrhagic Telangiectasia

Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers

“…Interestingly, the prevalence of PAVM in children from this study was globally similar to those observed in the French and Italian adult cohort (25% vs. 23%) (Table ) . These results are also consistent with the Canadian study performed in children with HHT and their first degree relatives, which also showed that the frequency of PAVM in HHT1 was similar in children and adults . In this latter study, the authors suggested that the majority of PAVM were already present at birth in children with HHT1, and that de novo formation of PAVM over time was unlikely.…”

“…Using HRCT scans without contrast but with MIP, we have detected PAVM in 25% of the patients. The prevalence of PAVM in children was 47% in France in the study from Karam et al and 35% in Canada in the study from Latino et al However, the mean age of the children who underwent a CT scan in these studies was 11 and 8.5 years, respectively, whereas it was 6.5 years in our study (with seven patients less than 1 year old, the youngest being 4 month old). In addition, the number of patients with an ACVRL1 mutation was higher in this study than in those by Karam and Latino (61% vs. 49%, and 36%, respectively) …”

“…As previously reported in the literature, more PAVM were detected in the HHT1 subgroup from this study. It is well established both in children and adults that the prevalence of PAVM is significantly higher in individuals with HHT1 compared with those with HHT2 . Moreover, there was in this study an increased prevalence HHT1 patient, and these patients exhibited more severe symptoms as three of the four children with PAVM who benefited from embolization therapy were HHT1.…”

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

“…In general, the presence of unexplained pulmonary, cerebral, or hepatic AVMs should raise suspicion for HHT. Pulmonary AVMs are detectable by CT or X-ray and have been shown to be visible in patients as early as adolescence, although the study demonstrating this had a relatively small pediatric sample size [19]. Cerebral AVMs are present in about 10% of patients with HHT and are best visualized by MRI [20].…”

Hypoxemia without Respiratory Distress: Hereditary Hemorrhagic Telangiectasia in a Child

“…12 Some authors also suggest pulmonary assessment with contrast echocardiography or computed tomography of the chest should take place for monitoring of silent AVMs, especially prior to invasive procedures. 12,16,17 If the patient must undergo anesthesia, steps should be taken to avoid the introduction of air emboli in the intravenous line due as pulmonary AVMs may have right-to-left shunting that can result in stroke. 8,10,19 For example, a bubble trap was utilized in this patient when she underwent anesthesia during her hospitalization at our institution.…”