Common manifestation of Marfan syndrome include annuloaortic ectasia with or without aortic valve insufficiency, aortic dissection, aortic aneurysm, pulmonary artery dilatation, and mitral valve prolapse. Aortic root aneurysms are present in up to 98% of patients with Loeys-Dietz syndrome, with thoracic aortic dissection being the leading cause of death (67%), followed by abdominal aortic dissection. Arterial tortuosity is a distinguishing feature of Loeys-Dietz syndrome, and there is a propensity for involvement of the extracranial carotid arteries and vertebral arteries [83]. Other cardiovascular abnormalities described in Loeys-Dietz syndrome include coronary artery aneurysms, pulmonary artery aneurysms, and aneurysms of the ductus arteriosus. Ehlers-Danlos syndrome also predisposes to aortic dissections. Nearly 25% of people with bicuspid aortic valve may experience severe aortic valve dysfunction, ascending aortic aneurysm, cardiac death, hospital admission for heart failure, and aortic dissection or rupture [84]. Children with aortopathy require regular imaging surveillance to measure the aortic diameter, status of the aortic valve, and cardiac functional status. Current surgical mandate is based on aortic diameter cutoffs to decide the time of surgical intervention [85,86]. The guidelines from the American Heart Association provide thresholds for prophylactic replacement of the aorta, based primarily on aortic diameter or rapid aortic enlargement [87,88]. Arteriography Coronary with Ventriculography Coronary artery ectasia can be an associated finding in many connective tissue diseases like bicuspid aortic valve [89], Marfan syndrome, and systemic lupus erythematosus. Coronary arteriography has been useful for imaging, but in current practice, it is used only if coronary CTA or coronary MRA provide insufficient information.
Congenital or Acquired Heart Disease. Common manifestation of Marfan syndrome include annuloaortic ectasia with or without aortic valve insufficiency, aortic dissection, aortic aneurysm, pulmonary artery dilatation, and mitral valve prolapse. Aortic root aneurysms are present in up to 98% of patients with Loeys-Dietz syndrome, with thoracic aortic dissection being the leading cause of death (67%), followed by abdominal aortic dissection. Arterial tortuosity is a distinguishing feature of Loeys-Dietz syndrome, and there is a propensity for involvement of the extracranial carotid arteries and vertebral arteries [83]. Other cardiovascular abnormalities described in Loeys-Dietz syndrome include coronary artery aneurysms, pulmonary artery aneurysms, and aneurysms of the ductus arteriosus. Ehlers-Danlos syndrome also predisposes to aortic dissections. Nearly 25% of people with bicuspid aortic valve may experience severe aortic valve dysfunction, ascending aortic aneurysm, cardiac death, hospital admission for heart failure, and aortic dissection or rupture [84]. Children with aortopathy require regular imaging surveillance to measure the aortic diameter, status of the aortic valve, and cardiac functional status. Current surgical mandate is based on aortic diameter cutoffs to decide the time of surgical intervention [85,86]. The guidelines from the American Heart Association provide thresholds for prophylactic replacement of the aorta, based primarily on aortic diameter or rapid aortic enlargement [87,88]. Arteriography Coronary with Ventriculography Coronary artery ectasia can be an associated finding in many connective tissue diseases like bicuspid aortic valve [89], Marfan syndrome, and systemic lupus erythematosus. Coronary arteriography has been useful for imaging, but in current practice, it is used only if coronary CTA or coronary MRA provide insufficient information.