Adult Congenital Heart Disease

Coronary artery aneurysms in patients with Marfan syndrome: frequent, progressive, and relevant: Coronary artery aneurysms in Marfan syndrome. Elisabetta Mariucci, Lisa Bonori, Luigi Lovato, Claudio Graziano, Cristina Ciuca, Davide Pacini, Luca Di Marco, Emanuela Angeli, Lucio Careddu, Gaetano Gargiulo, Andrea Donti Can J Cardiol 2021 Mar 9;S0828-282X(21)00132-X. doi: 10.1016/j.cjca.2021.03.002.     Take Home Points:   In patients with Marfan Syndrome (MFS), coronary artery aneurysm (CAA) was observed retrospectively in 46% of a small Italian cohort of adults (n = 109) with pathogenic variants of the FBN1 gene. The presence of CAA was significantly correlated with previous aortic dissection or aortic root intervention, longer time since aortic intervention, higher systemic score, number of cardiovascular risk factors, and diffuse aortic disease. CAA should be considered in MFS, especially after aortic root replacement, and the authors conclude that surveillance for CAA should be regularly performed; there are a number of limitations in this study, however, and data is overall lacking to define the significance of CAA and need for routine surveillance.   Commentary by Dr. Timothy Roberts (Melbourne, Australia), section editor of ACHD Journal Watch:  Marfan syndrome (MFS) is an autosomal dominant condition with a prevalence of 1:5000 to 1:10000, mostly associated with pathogenic variants of the FBN1 gene. Cardiac manifestations notably include thoracic aortopathy such as aortic root aneurysm and aortic dissection, and mitral valve disease. Data on the prevalence of CAA in MFS is very limited, and thus the current study aimed to measure the prevalence and clinical consequence of CAA in a cohort of adult patients with MFS.   Adult patients attending a single centre Marfan and heritable thoracic aortic disease clinic were included. Hospital, surgical, clinical and imaging follow-up reports were reviewed retrospectively. The most recent CTA scan of technical adequacy was reviewed in a blinded fashion for coronary artery measurements. Aortic root diameter was measured between inner-edges sinus-to-sinus at end-diastole. Coronary artery diameter was manually measured in end-diastole in an adjusted axial plane; CAA was defined as a focal dilatation of at least 1.5 times the adjacent normal coronary artery segment.   A total of 109 patients were included, mean age 42 +/- 14 years (range 18 – 78 years), and grouped into (1) those with a native aortic root (n = 49), and (2) those with previous aortic root replacement (n = 60). In group 1, 9 subjects (18%) had CAA identified, of which only one had aneurysm of both the RCA and LMCA; in group 2, 46 of the 60 subjects (68%) had CAA detected, with RCA involvement in 65%, LMCA in 50%, and both in 38%. Clinical characteristics were similar in group 1 with or without CAA, whereas in group 2, patients with CAA had more severe mitral valve and abdominal aortic involvement. There was no difference in prevalence of CAA in association with the technique of coronary artery reimplantation. After confirmation of MFS diagnosis, mean follow-up period was 8.5 +/- 7.6 years, with no coronary artery dissection or death occurring over that period. Four patients developed pseudoaneurysms of the coronary anastomoses and underwent surgery at a mean age of 53 +/- 12 years for indications including progressive LV systolic dysfunction (n = 2), rapid CAA expansion (n = 1) and coexisting severe aortic arch aneurysm (n = 1).   Across the cohort, CAA was most strongly correlated with previous aortic root replacement (R = 0.56, P < 0.0001) and time since aortic root replacement (R = 0.41, P < 0.0001). Weak correlations were seen for higher systemic scores, number of CV risk factors, previous aortic dissection, and extended aortic dilatation (R < 0.3, P < 0.05).   Two other small studies report a high prevalence of CAA in those with MFS and previous aortic root replacement (43% and 51%). While the current study also identified a high prevalence of CAA in MFS patients after aortic root replacement, only a small number without previous surgery had CAA – without complication over a mean 8.5 years follow up. The number of subjects with CAA post aortic root replacement requiring reintervention was low and serial data was not presented to evaluate rate of change after their initial surgery. Although a number of significant correlations were reported in the present study, most were weak at best (R < 0.3). Despite the authors’ conclusion that coronary artery size should be regularly followed, more data is required to support this recommendation.     Congenital Heart Anesthesia and Intensive Care Section Editors Rania Abbasi – Indianapolis, IN Nischal Gautam – Houston, TX

Breathing training improves exercise capacity in patients with tetralogy of Fallot: a randomised trial. Hock J, Remmele J, Oberhoffer R, Ewert P, Hager A. Heart. 2021 Mar 18:heartjnl-2020-318574. doi: 10.1136/heartjnl-2020-318574. Online ahead of print. PMID: 33737455   Take Home Points:   Inspiratory training increases lung volumes and slows down the deconditioning in exercise capacity. Increased exercise frequency increased the degree of improvement.   Commentary from Dr. Blanche Cupido (Cape Town, South Africa), chief section editor of ACHD Journal Watch:  Many Tetralogy of Fallot (TOF) patients experience late complications, frequently in the form of pulmonary disease or RV dysfunction. Cardiopulmonary exercise testing form part of the long term follow up strategy to determine exercise tolerance objectively and aid decision-making regarding RV deterioration. Many of these patients have an impairment of lung function (restrictive pattern) correlating to their reduced exercise capacity. Previous studies showed that physical training can improve physical endurance capacity in children and young adults with TOF.   This study from a single center in Munich, assessed whether a home-based volume-oriented inspiratory breathing training increases exercise capacity (assessed by peak oxygen uptake). The design was a prospective randomized non-blinded clinical trial, with the primary outcome of improvement in exercise capacity as measured by peak oxygen uptake (peak VO2).The secondary outcomes were lung volumes and thoracic flexibility.   Adult patients were enrolled between February and November 2017. Patients included had a repaired TOF (DORV-type and pulmonary atresia with VSD were included too). Patients with obstructive lung disease, a recent medication change (within 3 months), recent cardiac catheterization (within 6 months), recent heart surgery (within the last 12 months), planned surgery within the next 36 months, severe heart failure, frequent arrythmias, the presence of a pacemaker and a current lung infection. All patients had echocardiography, spirometry, breathing excursion and a cardiopulmonary exercise test (CPET). Patients were randomized to either start their training immediately or after 6 months.   All patients had an exhausting and a symptom-limited CPET. A volume-oriented respiratory training was performed using the Coach2 Incentive spirometer lung trainer. This device encourages a constant slow long inspiration without flow resistance. It has not effect on exhalation. Training commenced at 40% of measured FVC  - 1-3 sets of 10-30 reps were done daily.   Thirty patients were assigned randomly to the training group and 30 to the control group. There was no significant difference in terms of age, BMI, restrictive lung function, exercise capacity at baseline of age of repair in the 2 groups.   Initially the values of lung capacity did not differ between the 2 groups. The training group had a significantly increased change in peak VO2 (+0.5 cf -2.1 , p=0.011), an increase in FVC (0.18 vs 0.08, p=0.036) and an increase in FEV1 (0.14 vs 0.00, p=0.007) (figure 2 above). No significant changes occurred with respect to breathing excursion.   In those who self-reported to train 7 days a week over the 6 month period, a significant improvement in peak VO2 was notes (see figure 3 below). There was a positive correlation between self-reported training and peak VO2 (r=0.282, p=0.039).