Congenital aortic stenosis in adults: rate of progression and predictors of clinical outcome: Reply

Dear Editor,We thank Dr. Ramaraj for his interest in our analysis on the progression of congenital aortic stenosis. Age should be regarded as an important risk factor for faster stenosis progression. The mechanism for faster progression is probably valve calcification occurring at an earlier age, promoted by the abnormal mechanical and shear stresses associated with a bicuspid aortic valve. Recent insights into the pathogenesis of calcification of the aortic valve suggest that this is an active, rather than a passive process, with features reminiscent of atherosclerosis. Inflammation, lipid infiltration, dystrophic calcification, ossification, and endothelial dysfunction have been observed in both diseases. [...

Heart failure in congenital heart disease: management options and clinical challenges

Introduction: The population of adults with congenital heart disease (ACHD) is rapidly expanding and one of the major complications is heart failure. Timely diagnosis and treatment are crucial, but strong evidence for effectiveness of heart failure treatment in ACHD is currently lacking. Components of the medical history, physical examination and further diagnostic tests including ECG, echocardiography, cardiac magnetic resonance imaging, exercise testing, and biomarkers can identify patients at risk for early mortality or heart failure. Areas covered: Although the number of studies guiding evidence-based treatment are expanding, many clinical questions have not been completely answered yet. Therefore, in this review we provide an overview of current available insights in epidemiology, diagnosis, risk stratification and treatment options in ACHD patients, including non-medical therapies and advanced care planning. Expert Opinion: We strongly advocate expanding current use of biomarkers in the diagnostic process and timely initiation of discussing advanced treatment options and advanced care planning with patients and their loved ones. More research in multi-center collaborations is needed to study all aspects of care of adult congenital heart disease patients

Dysrhythmias in patients with a complete atrioventricular septal defect: From surgery to early adulthood

Contains fulltext : 203679.pdf (publisher's version ) (Open Access

Combined cardiological and neurological abnormalities due to filamin A gene mutation

Background: Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with cardiac abnormalities, especially in the left ventricular outflow tract, but can also cause a congenital malformation of the cerebral cortex. We noticed that some patients diagnosed at the neurogenetics clinic had first presented to a cardiologist, suggesting that earlier recognition may be possible if the diagnosis is suspected. Methods and results: From the Erasmus MC cerebral malformations database 24 patients were identified with cerebral bilateral periventricular nodular heterotopia (PNH) without other cerebral cortical malformations. In six of these patients, a pathogenic mutation in FLNA was present. In five a cardiac defect was also found in the outflow tract. Four had presented to a cardiologist before the cerebral abnormalities were diagnosed. Conclusions: The cardiological phenotype typically consists of aortic or mitral regurgitation, coarctation of the aorta or other left-sided cardiac malformations. Most patients in this category will not have a FLNA mutation, but the presence of neurological complaints, hyperlaxity of the skin or joints and/or a family history with similar cardiac or neurological problems in a possibly X-linked pattern may alert the clinician to the possibility of a FLNA mutation