Bicuspid aortic valve

Aortic stenosis is obstruction to left ventricular outflow from a narrowed aortic valve, most often calcific degeneration in older adults or a bicentric bicuspid valve earlier in life. Symptoms of angina, syncope, or heart failure mark a poor prognosis, and severe symptomatic disease is treated with valve replacement (surgical or transcatheter).

Aortic regurgitation is diastolic backflow of blood from the aorta into the left ventricle from valve or aortic root disease. Chronic disease causes volume overload with a wide pulse pressure and a decrescendo diastolic murmur, while acute severe regurgitation is a surgical emergency; severe symptomatic or decompensating disease is treated with valve replacement.

Aortic dissection is a tear in the aortic intima allowing blood to split the media, creating a false lumen, and is a surgical emergency. Type A (ascending) dissection needs emergency surgery, while type B (descending) is usually managed medically with rapid heart-rate and blood-pressure control; the priority is impulse control with a beta-blocker first.

Thoracic aortic aneurysm is dilation of the thoracic aorta, often related to hypertension, atherosclerosis, bicuspid aortic valve, or connective tissue disease. Usually asymptomatic, it risks dissection and rupture, so management is blood pressure control, surveillance imaging, and elective repair at size thresholds that are lower in heritable aortopathy.

Coarctation of the aorta is a congenital narrowing of the aorta, usually just distal to the left subclavian artery, causing upper-limb hypertension with reduced, delayed lower-limb pulses. Critical neonatal coarctation is duct-dependent, while older children and adults present with hypertension; treatment is surgical or catheter-based repair.

Infective endocarditis is microbial infection of the endocardium, usually a heart valve, producing vegetations that cause valve destruction, embolism, and systemic infection. Diagnosis uses the modified Duke criteria combining blood cultures and echocardiography, and treatment is prolonged targeted intravenous antibiotics with surgery for complications.

Turner syndrome is a 45,X (or mosaic-variant) chromosomal disorder causing gonadal dysgenesis, short stature, and a characteristic phenotype including webbed neck, coarctation of the aorta, and horseshoe kidney. Karyotype confirms the diagnosis, and management centers on growth hormone in childhood and estrogen-based pubertal induction with lifelong cardiovascular and metabolic surveillance.

Marfan syndrome is an autosomal dominant connective tissue disorder from FBN1 (fibrillin-1) mutations, with skeletal, ocular, and cardiovascular features. The cardiovascular risk drives prognosis: aortic root dilation predisposing to dissection and rupture, managed with beta-blockers or ARBs, activity restriction, surveillance imaging, and prophylactic aortic surgery.

Hypertrophic cardiomyopathy is an autosomal dominant sarcomere disease causing unexplained left ventricular hypertrophy, often with dynamic left ventricular outflow tract obstruction, and is a leading cause of sudden cardiac death in young people. Diagnosis is by echocardiography or cardiac MRI showing unexplained hypertrophy, and management includes negative inotropes, obstruction relief, and ICD placement for high sudden-death risk.

Mitral valve prolapse is systolic displacement of one or both mitral leaflets into the left atrium, usually from myxomatous degeneration, marked by a mid-systolic click and a late systolic murmur. Most cases are benign, but it is the leading cause of primary mitral regurgitation and a small subset carry arrhythmic risk. Management is reassurance for benign disease, beta-blockers for symptoms, and mitral valve repair for severe regurgitation.