Unicuspid aortic valve in Turner syndrome, detected by 3D transoesophageal echocardiography: The usefulness of 3D echo in challenge diagnosis.

Turner syndrome is a genetic disorder associated with a variable range of cardiac congenital diseases. Out of these, unicuspid aortic valve is a rare malformation, related to premature aortic stenosis and its diagnosis represents a challenge with transthoracic echocardiography. The application of 3D echocardiography could facilitate the diagnosis, especially with transoesophageal approach. Moreover, cardiac computed tomography and cardiac magnetic resonance have demonstrated their usefulness for detection of aortic morphology. We report a case of young patient affected by Turner syndrome, with unicuspid aortic valve, identified by 3D transoesophageal echocardiography and confirmed by cardiac computed tomography. The patient was submitted to aortic valve replacement.

Sex-related differences in exercise performance and outcome of patients with hypertrophic cardiomyopathy.

AIMS: Exercise performance is known to predict outcome in hypertrophic cardiomyopathy (HCM), but whether sex-related differences exist is unresolved. We explored whether functional impairment, assessed by exercise echocardiography, has comparable predictive accuracy in females and males with HCM. METHODS: We retrospectively evaluated 292 HCM patients (46 ± 16 years, 72% males), consecutively referred for exercise echocardiography; 242 were followed for 5.9 ± 4.2 years. RESULTS: Peak exercise capacity was 6.5 ± 1.6 metabolic equivalents (METs). Sixty patients (21%) showed impaired exercise capacity (≤5 METs). Exercise performance was reduced in females, compared with males (5.6 ± 1.6 vs 6.9 ± 1.5 METs, p < 0.001; peak METs ≤ 5 in 40% vs 13%, p < 0.001), largely driven by a worse performance in women >50 years of age. At multivariable analysis, female sex was independently associated with impaired exercise capacity (odds ratio: 4.67; 95% confidence interval (CI): 1.83-11.90; p = 0.001). During follow-up, 24 patients (10%) met the primary endpoint (a combination of cardiac death, heart failure requiring hospitalization, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator discharge, resuscitated sudden cardiac death and cardioembolic stroke). Event-free survival was reduced in females (p = 0.035 vs males). Peak METs were inversely related to outcome in males (hazard ratio (HR) per unit increase: 0.57; 95% CI: 0.39-0.84; p = 0.004) but not in females (HR: 1.22; 95% CI: 0.66-2.24; p = 0.53). CONCLUSIONS: Female patients with HCM showed significant age-related impairment in functional capacity compared with males, particularly evident in post-menopausal age groups. While women were at greater risk of HCM-related complications and death, impaired exercise capacity predicted adverse outcome only in men. These findings suggest the need for sex-specific management strategies in HCM.

Caseous Calcification of the Mitral Annulus.

Soft-tissue masses or mass-like lesions involving the mitral valve include a wide range of diseases such as tumors, abscesses, vegetations, thrombus and, rarely, caseous calcifications of the mitral annulus. Caseous calcifications of the mitral annulus is a rare variant of mitral annular calcification that is usually asymptomatic and diagnosed incidentally. Echocardiography is the first-choice imaging modality. Cardiac computed tomography is an ideal tool to confirm the presence of calcifications and caseous necrosis. In cases where there is doubt, cardiac magnetic resonance imaging may be used. We present the case of a 62-year-old patient with an intra-cardiac mass diagnosed by echocardiography. Imaging modalities to achieve a correct diagnosis and avoid unnecessary surgical intervention are discussed.

Endocardial blood cyst: a rare site and age of presentation.

Cardiac blood cysts are rare findings in clinical practice. They usually involve the valves and are very uncommon in adult age. Their clinical manifestation varies broadly, as they can interfere with intracardiac flow, or even be completely silent. We report a case of a newly developed cyst of the atrial septum, incidentally detected by transthoracic echocardiography in a 69-year-old asymptomatic patient. The diagnosis was confirmed by postsurgery histopathological examination.

Exercise Doppler echocardiography identifies preclinic asymptomatic pulmonary hypertension in systemic sclerosis.

In systemic sclerosis (SSc), the involvement of the interstitium or vascular system of the lung may lead to pulmonary arterial hypertension (PAH). PAH is often asymptomatic or oligosymptomatic in early SSc and, when it becomes symptomatic, pulmonary vascular system is already damaged. Exercise echocardiography (ex-echo), measuring pulmonary artery pressure (PAP) during exercise and allowing to differentiate physiologic from altered PAP responses, may identify subclinical PAH. Our aims were (a) to evaluate by ex-echo the change of PAP in patients with SSc without lung involvement; and (b) to correlate PAP during exercise (ex-PAP) values to clinical and biohumoral parameters of PAH. Twenty-seven patients with limited SSc (ISSc) without interstitial lung involvement were studied. Patients underwent rest and exercise two-dimensional and Doppler echocardiography by supine cycloergometer. Systolic PAP was calculated using the maximum systolic velocity of the tricuspid regurgitant jet at rest and during exercise values of systolic PAP exceeding 40 mmHg at ex-echo were considered as abnormal, and biohumoral markers potentially related to PAH were assessed. Eighteen of 27 SSc patients presented an ex-PAP > 40 mmHg, while in 9 of 27 patients ex-PAP values remained < 40 mmHg (48.8 +/- 4.5 mmHg versus 36.2 +/- 3.1 mmHg; P < 0.001). Other echocardiographic and ergometric parameters, clinical tests, and biohumoral markers were not different in the two groups. Ex-PAP significantly correlated with D-dimer (P = 0.0125; r2 = 0.2029). Ex-echo identifies a cluster of SSc patients with subclinical PAH that may develop PAH. This group should be followed up and may be considered for specific therapies to prevent disease evolution.