Bicuspid aortic valve (BAV) and Coarctation of the Aorta (CoA) are common congenital cardiac malformations. BAV has a wide spectrum of clinical presentations ranging from the neonate with critical aortic stenosis to the asymptomatic adult. CoA may occur in isolation or in association with BAV, aortic and/or subaortic stenosis, ventricular septal defects, mitral valve abnormalities and varying degrees of left ventricular hypoplasia. In some cases, it is associated with genetic syndromes, e.g. Turner syndrome. By contrast, Marfan syndrome (MFS) is a rare autosomal-dominant connective tissue disorder that - in the cardiovascular system - is associated with aortic root dilation with the risk of aortic regurgitation, aortic dissection as well as mitral valve prolapse. Though the morphology of CoA, BAV and MFS is distinct, all lesions are associated with increased aortic stiffness and histologic abnormalities of the aorta.
Patients with congenital heart disease are at risk for hypertension, increased arterial stiffness, diastolic dysfunction, premature coronary artery disease, early cardiovascular morbidity and mortality. Understanding the underlying mechanisms of aortopathy is of particular relevance for patients with congenital heart disease.
Specific themes we would like contributors to address include, but are not limited to:
1) Aortopathy in different syndromes such as Turner's, William-Beuren's, Noonan's or Marfan syndrome (MFS).
2) Differences between aortopathy in CHD compared to genetic syndromes
3) Mechanisms of arterial and cardiac stiffening in CHD and implications for the outcome.
4) Risk for acquired coronary artery disease in congenital aortopathies, the role of prevention.
Bicuspid aortic valve (BAV) and Coarctation of the Aorta (CoA) are common congenital cardiac malformations. BAV has a wide spectrum of clinical presentations ranging from the neonate with critical aortic stenosis to the asymptomatic adult. CoA may occur in isolation or in association with BAV, aortic and/or subaortic stenosis, ventricular septal defects, mitral valve abnormalities and varying degrees of left ventricular hypoplasia. In some cases, it is associated with genetic syndromes, e.g. Turner syndrome. By contrast, Marfan syndrome (MFS) is a rare autosomal-dominant connective tissue disorder that - in the cardiovascular system - is associated with aortic root dilation with the risk of aortic regurgitation, aortic dissection as well as mitral valve prolapse. Though the morphology of CoA, BAV and MFS is distinct, all lesions are associated with increased aortic stiffness and histologic abnormalities of the aorta.
Patients with congenital heart disease are at risk for hypertension, increased arterial stiffness, diastolic dysfunction, premature coronary artery disease, early cardiovascular morbidity and mortality. Understanding the underlying mechanisms of aortopathy is of particular relevance for patients with congenital heart disease.
Specific themes we would like contributors to address include, but are not limited to:
1) Aortopathy in different syndromes such as Turner's, William-Beuren's, Noonan's or Marfan syndrome (MFS).
2) Differences between aortopathy in CHD compared to genetic syndromes
3) Mechanisms of arterial and cardiac stiffening in CHD and implications for the outcome.
4) Risk for acquired coronary artery disease in congenital aortopathies, the role of prevention.