Williams syndrome syndrome is frequently associated with congenital heart defects, particularly supravalve aortic stenosis, supravalve pulmonic stenosis and arterial hypertension but mitral valve disease may be more frequent than commonly recognized. A 15-year-old female with Williams syndrome underwent successful mitral valve repair for mitral valve repair guided by 3D echocardiography. Review of the echocardiographic database of our institution over a 10-year period identified 26 other patients with Williams syndrome including 37% with mitral valve disease (nine with mitral valve prolapse and one with mitral insufficiency). The literature on genetic causes of mitral valve prolapsed is presented.

Aortic root abscess is a relatively common complication of aortic valve endocarditis. However, aortic root abscess and formation of a fistula from the aortic root to the right ventricular outflow tract in the setting of a native bicuspid aortic valve (BAV) is a rare event. We present consecutive echocardiographic images of unruptured periaortic abscess and fistulization of it to the right ventricle in 24 hours, in a patient with BAV and fever of unexplained origin.

We demonstrated a case with floating thrombus in sinus of Valsalva obstructing the right coronary ostium intermittently, and causing cardiogenic shock. The patient was treated successfully with surgical removal of mass. A homozygote polymorphism of plasminogen activator inhibitor (PAI) 1 4G/5G was found. This is the first report demonstrating a patient with PAI 1 polymorphism and thrombus of Valsalva complicated with cardiogenic shock.

Paravalvular leak after prosthetic mitral valve surgery may lead to symptomatic mitral regurgitation and hemolytic anemia requiring reoperation. Percutaneous closure of paravalvular leaks is a relatively recent technique still considered a challenging procedure burdened by possible complications, to be offered only to poor redo surgical candidate patients. Multimodality imaging is advocated to plan and guide the procedure, to minimize complication risks.
We report on a case of mitral paraprosthesis leak in which transthoracic three-dimensional echocardiography was used to characterize prosthesis pathology and precisely locate the dehiscence area, whereas intracardiac echocardiography was used to guide and monitor the closure procedure.

A 31-year-old female was referred to our hospital because of progressive shortness of breath, general fatigue and presyncope. Initially, bicuspid aortic valve was suspected by two-dimensional transesophageal echocardiography. However, real time three-dimensional transesophageal echocardiography (3DTEE) clearly revealed horseshoe-shaped unicuspid aortic valve with a posteriorly situated unfused commissure. The patient underwent aortic root replacement with pulmonary autograft. Surgical inspection confirmed the diagnosis of unicomissural unicuspid aortic valve, and the excised specimen of aortic valve was remarkably similar to the findings of 3DTEE. This case report highlights the utility of 3DTEE in characterizing morphology and diagnosis of unicuspid aortic valve.