Postembolotherapy Pulmonary Arteriovenous Malformation Follow-Up: A Role for Graded Transthoracic Contrast Echocardiography Prior to High-Resolution Chest CT Scan.

BACKGROUND: High-resolution chest CT (HRCT) scan is recommended after pulmonary arteriovenous malformation (PAVM) embolotherapy to assess for PAVM persistence and untreated PAVM growth. Graded transthoracic contrast echocardiography (TTCE) predicts the need for embolotherapy in PAVM screening. This study sought to determine whether postembolotherapy graded TTCE can similarly predict the need for repeat embolotherapy. METHODS: Thirty-two patients (8 men and 24 women; mean age, 51.1 ± 12.6 years) with prior PAVM embolotherapy and follow-up HRCT scan were prospectively enrolled. Patients underwent graded TTCE using a validated three-point quantitative grading scale. TTCE grade and HRCT findings were compared. RESULTS: Median time between most recent HRCT scan and TTCE was 7 days (interquartile range, 0-272 days). Thirty patients (94%) had no PAVMs requiring repeat embolotherapy on HRCT scan. Two patients (6%) had PAVMs requiring repeat embolotherapy (feeding artery [FA] ≥ 3 mm), one with untreated PAVM growth and one with treated PAVM persistence. TTCE was positive in 88% of patients (n = 28). All patients (n = 4, 12%) with negative TTCE had no visible PAVMs on HRCT scan. Nine patients (32%) had grade 1 shunt, 10 (35%) had grade 2 shunt, and nine (32%) had grade 3 shunt. No patients with grade 1 shunt had PAVMs amenable to repeat embolotherapy on HRCT scan. All patients (n = 2) with PAVMs requiring repeat embolotherapy (FA ≥ 3 mm) had grade 3 shunt. TTCE grade was significantly associated with PAVM FA diameter (P < .001). CONCLUSIONS: Postembolotherapy graded TTCE can predict the need for repeat embolotherapy on HRCT scan. Patients with negative TTCE and grade 1 shunt may not require HRCT follow-up and can potentially be followed with serial graded TTCE. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT02936349; URL: www.clinicaltrials.gov.

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.

OBJECTIVE: To assess health-related quality of life (HRQOL) in a large multicenter cohort of children and young adults with Marfan syndrome participating in the Pediatric Heart Network Marfan Trial. STUDY DESIGN: The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales were administered to 321 subjects with Marfan syndrome (5-25 years). PedsQL scores were compared with healthy population norms. The impact of treatment arm (atenolol vs losartan), severity of clinical features, and number of patient-reported symptoms on HRQOL was assessed by general linear models. RESULTS: Mean PedsQL scores in children (5-18 years) with Marfan syndrome were lower than healthy population norms for physical (P ≤ .003) and psychosocial (P < .001) domains; mean psychosocial scores for adults (19-25 years) were greater than healthy norms (P < .001). HRQOL across multiple domains correlated inversely with frequency of patient-reported symptoms (r = 0.30-0.38, P < .0001). Those <18 years of age with neurodevelopmental disorders (mainly learning disability, attention-deficit/hyperactivity disorder) had lower mean PedsQL scores (5.5-7.4 lower, P < .04). A multivariable model found age, sex, patient-reported symptoms, and neurodevelopmental disorder to be independent predictors of HRQOL. There were no differences in HRQOL scores by treatment arm, aortic root z score, number of skeletal features, or presence of ectopia lentis. CONCLUSIONS: Children and adolescents with Marfan syndrome were at high risk for impaired HRQOL. Patient-reported symptoms and neurodevelopmental disorder, but not treatment arm or severity of Marfan syndrome-related physical findings, were associated with lower HRQOL.