Determinants of cardiopulmonary functional improvement after transcatheter atrial septal defect closure in asymptomatic adults

OBJECTIVES: We sought to evaluate the course of cardiopulmonary function after transcatheter atrial septal defect (ASD) closure and to identify the physiopathologic mechanisms leading to this change. BACKGROUND: Conflicting reports exist on cardiopulmonary functional improvement in asymptomatic adults after transcatheter closure of a secundum ASD. METHODS: Thirty-two consecutive adults (13 males; age 42.6 +/- 16.7 years) underwent maximal cardiopulmonary exercise testing and transthoracic echocardiography both on the day before and six months after transcatheter ASD closure. Mean pulmonary artery pressure, pulmonary to systemic flow ratio (Qp/Qs), and ASD diameter were measured before closure. RESULTS: Peak oxygen uptake (Vo(2)) (p < 0.001), peak oxygen pulse (p = 0.0027), and vital capacity (p = 0.0086) improved after ASD closure, although peak heart rate did not. A significant correlation was found between peak Vo(2) improvements and Qp/Qs (p = 0.0013). Left ventricular ejection fraction (LVEF) (p < 0.0001) and left ventricular end-diastolic diameter (LVEDD) (p < 0.0001) significantly increased after six months, although left ventricular end-systolic diameter did not. Right ventricular long- and short-axis dimensions decreased (both p < 0.0001). Peak Vo(2) and of peak oxygen pulse improvements correlated to both LVEF (p = 0.0009 and 0.0019, respectively) and LVEDD (p < 0.0001 and 0.032, respectively) increments. The decrease of both long- and short-axis right ventricular dimensions positively correlated to both LVEF and LVEDD improvements. The improvement in LVEF correlated to Qp/Qs (p = 0.0026). CONCLUSIONS: Transcatheter ASD closure leads to a significant improvement in cardiopulmonary function within six months, via an increase in peak oxygen pulse. An increase in both left ventricular stroke volume and cardiac output due to a positive ventricular interaction is the mechanism leading to improved peak Vo(2).     

Non-coronary cardiac events,younger age,and IVIG unresponsiveness increase the risk for coronary aneurysms in Italian children with Kawasaki disease

Clinical Rheumatology - Kawasaki disease (KD) is the most frequent cause of acquired heart disease in children in high-income countries because of coronary artery involvement. Risk factors for...     

Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

The duplication of the Williams–Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.     

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases

Clinical, radiological and biochemical findings of two new cases of Sanfilippo disease, type D are reported. A high percentage of heparan sulfate was found in the urinary glycosaminoglycan pattern and a severe deficiency of N-acetylglucosamine-6-sulfate sulfatase was demonstrated in skin cultured fibroblasts from the patients. One of the patients presented mild intellectual impairment which differentiates him from the other cases described to date.     

Recovery Kinetics of Oxygen Uptake Is Abnormally Prolonged in Patients with Mustard/Senning Repair for Transposition of the Great Arteries

The aim of this study was to evaluate the ability to recover from exercise in patients with a Mustard/Senning (M/S) repair for transposition of the great arteries and to identify the major determinants. A total of 40 consecutive patients with a M/S repair at a mean age of 10.0 ± 9.8 months underwent maximal cardiopulmonary exercise testing at 19.5 ± 11.3 years of age. Results were compared to those of a cohort of 153 healthy individuals. Decay of oxygen uptake (VO₂), CO₂ (VCO₂), minute ventilation (VE), heart rate (HR) was calculated for the first minute of recovery. M/S patients had reduced peak VO₂ (22.9 ± 7.2 vs 34.2 ± 9.5 ml O₂/kg/min, p < 0.0001) and VO₂ slope (0.27 ± 0.10 vs 0.47 ± 0.2 L O₂/min, p < 0.0001), Peak O₂ pulse (p < 0.0001) and peak HR (p = 0.001) were reduced. VCO₂ and VE slopes were reduced (p < 0.0001 for both), whereas HR slope was similar (p = 0.38). In M/S patients, the only independent determinants of VO₂ slope during recovery were pulse O₂ slope (p < 0.0001) and VCO₂ slope (p < 0.0001). In M/S patients, a limited cardiopulmonary reserve affects not only maximal exercise responses but also the recovery phase. A prolonged recovery of O₂ pulse and a prolonged CO₂ retention with subsequent prolonged hyperpnea are the main determinants of the delayed recovery.     

Noncoronary Aortic Cusp Rupture in an Adult Patient With Ventricular Septal Defect: Echocardiographic Diagnosis

Aortic regurgitation is a common complication of ventricular septal defects. The most common mechanism is right or noncoronary cusp prolapse. Other mechanisms are right or noncoronary cusp fibrosis resulting in thickening and restricted motion of the leaflets or infective endocarditis leading to cusp perforation. We describe a case of subacute and severe aortic regurgitation due to noncoronary cusp prolapse resulting in the development of a large aneurysm and rupture of the noncoronary sinus of Valsalva into the right atrium.