What are the causes of bicuspid (aortic valve) stenosis, Deep Vein Thrombosis (DVT), embolism, Superior Vena Cava (SVC) syndrome, and dilated cardiomyopathy?

From the Guidelines

Bicuspid aortic valve stenosis is most commonly caused by a congenital abnormality of the aortic valve, where the valve has only two cusps instead of three, often resulting from the fusion of the right and left coronary cusps 1.

Causes of Bicuspid Aortic Valve Stenosis

• Congenital abnormality of the aortic valve
• Calcific degeneration, often superimposed on a congenitally abnormal valve 1
• Rheumatic disease, which can cause commissural fusion and valve calcification 1

Causes of Deep Vein Thrombosis (DVT), Embolism, Superior Vena Cava (SVC) Syndrome, and Dilated Cardiomyopathy

• DVT: caused by factors such as immobility, surgery, cancer, and genetic predispositions, which lead to blood clot formation in the deep veins 1
• Embolism: often caused by the dislodgement of a blood clot, which can travel to other parts of the body and cause blockages 1
• SVC Syndrome: typically caused by obstruction of the superior vena cava, which can be due to thrombosis, tumors, or other external compressions 1
• Dilated Cardiomyopathy: caused by a variety of factors, including genetic mutations, viral infections, and exposure to toxins, which lead to weakening of the heart muscle and dilation of the heart chambers 1

Relationship Between Bicuspid Aortic Valve and Other Conditions

• Bicuspid aortic valve is associated with an increased risk of thoracic aortic aneurysm and dissection, particularly in patients with a family history of these conditions 1
• Patients with bicuspid aortic valve should be evaluated for asymptomatic thoracic aortic disease and monitored for signs of aortic dilatation 1

From the Research

Bicuspid Aortic Valve Stenosis

• The causes of bicuspid aortic valve (BAV) stenosis are related to hemodynamic perturbances in transvalvular flow 2
• BAV is the most common form of congenital heart disease and most patients develop cardiovascular complications over time, including BAV-associated aortopathy 2, 3
• Two distinct BAV phenotypes have been identified, which may have different causes of their associated aortopathy: the BAV stenosis phenotype and the root phenotype 2
• The root phenotype appears to have a genetic origin and may be associated with a higher risk of adverse aortic complications, irrespective of the extent of valvular disease 2

Deep Vein Thrombosis (DVT) and Embolism

• There is no direct evidence in the provided studies to explain the causes of DVT and embolism
• However, a study on Superior Vena Cava (SVC) syndrome mentions that vena cava thrombosis can present acutely and cause SVC syndrome 4

Superior Vena Cava (SVC) Syndrome

• The causes of SVC syndrome have evolved over time, with malignancy being the most common cause, followed by the presence of an intravascular device and/or mediastinal malignancy 5, 6
• Other causes of SVC syndrome include fibrosing mediastinitis and thrombosis of the innominate veins 6, 4
• The clinical presentation of SVC syndrome includes face or neck swelling, upper extremity swelling, dyspnea, cough, and dilated chest vein collaterals 6

Dilated Cardiomyopathy

• There is no direct evidence in the provided studies to explain the causes of dilated cardiomyopathy
• However, a study on bicuspid aortic valve disease mentions that a bicuspid aortic valve can cause severe heart failure in newborns and aortic dissection in adults, but does not specifically mention dilated cardiomyopathy 3