Bicuspid aortic valve (BAV) disease is one of the most frequent observed congenital heart abnormalities affecting 0.5-1.4% of the general population and has a 3:1 male predominance [1-4]. Although some genes have been described that found to be responsible for the abnormal valvulogenesis, little is known about BAV disease with respect to the genetic and embryolog‐ ical insight of calcification ...

A 62-year-old Japanese man with a systolic heart murmur and dyspnea on effort visited our clinic in March 2011. He had not been previously treated for hypertension, diabetes mellitus or dyslipidemia. The cardiac-thoracic ratio was 65% on the chest X-ray. The resting electrocardiography showed the ST-segment depression in leads I, aVL and V 4 to V 6. The transthoracic echocardiography showed a m...

Unicuspid aortic valve (UAV) is an extremely rare form of congenital aortic valvular abnormality. Although UAV shows similar clinical characteristics to bicuspid aortic valve, the clinical symptoms develop at earlier age and progress at a faster pace in UAV. In this report, we are presenting a 42-year-old male with severe aortic stenosis associated with unicommissural UAV. The patients underwen...

Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalie...

OBJECTIVES Our goal was to determine the prevalence and characteristics of aortic valve disease in girls and women with monosomy for the X chromosome, or Turner syndrome (TS). BACKGROUND Complications from congenital aortic valve disease are a major source of premature mortality in TS, but accurate data on the prevalence of aortic valve abnormalities and their association with aortic root dil...

BACKGROUND To investigate aortic dimensions in women with Turner syndrome (TS) in relation to aortic valve morphology, blood pressure, karyotype, and clinical characteristics. METHODS AND RESULTS A cross sectional study of 102 women with TS (mean age 37.7; 18-62 years) examined by cardiovascular magnetic resonance (CMR- successful in 95), echocardiography, and 24-hour ambulatory blood pressur...

A young male presented with multiple xanthomas and xanthelesmas, progressive breathlessness and angina on exertion. Investigations confirmed diagnosis of familial hypercholesterolaemia, bicuspid aortic valve with severe aortic stenosis and significant obstructive coronary artery disease.