Heidi M. Connolly

Outcome of the unoperated adult who presents with congenitally corrected transposition of the great arteries

OBJECTIVES The goal of this study was to determine the presentation and outcome of the unoperated adult with congenitally corrected transposition of the great arteries. BACKGROUND The presentation of this disorder and the outcome in unoperated adults have not been well defined. METHODS All unoperated patients > or =18 years old were evaluated for spectrum of disease, hemodynamic severity, timeliness of diagnosis and referral, and outcome. RESULTS Forty-four patients aged 20 to 79 years (mean, 44) were followed up to 144 months. In 29 (66%), the correct diagnosis was first made at age > or =18 years; the diagnosis was missed in seven of these patients in a prior cardiology consultation, despite cardiac imaging. Systemic atrioventricular valve (SAVV) regurgitation (grade > or =3/4) was noted in 26 patients (59%). Thirty (68%) had surgical intervention, including SAVV replacement in all, with no early mortality. Preoperatively, this subset had significant dysfunction of the systemic ventricle (SV) (ejection fraction [EF], 40 +/- 10%), and most had advanced symptoms (25 with ability index > or =2/4). In 16 (53%), SAVV regurgitation > or =3/4 and ventricular dysfunction had been documented for >6 months. The mean EF of the SV decreased significantly postoperatively (34 +/- 11%, p = 0.006). Four patients (13%) eventually required cardiac transplantation. Poor preoperative EF of the SV predicted eventual need for transplantation (p = 0.001). CONCLUSIONS Patients with unoperated congenitally corrected transposition of the great arteries are often misdiagnosed in adulthood and are referred late despite symptomatic SAVV regurgitation and significant SV dysfunction. Although excellent early surgical results can be achieved, significant residual dysfunction of the SV is common.

Left ventricular function in the Marfan syndrome without significant valvular regurgitation

Assessment of left ventricular (LV) size and function in many patients with the Marfan syndrome is confounded by the presence of aortic or mitral regurgitation. Therefore, we sought to determine LV size and function in a cohort of patients with the Marfan syndrome who had only mild or no aortic or mitral valve regurgitation. ••• Of the 128 patients in the Mayo Clinic Marfan database who met the Gent diagnostic criteria for the Marfan syndrome, 1 36 (23 males) had no or only mild aortic and mitral valve regurgitation noted on the first complete echocardiogram recorded at our institution. These 36 patients formed the study cohort. M-mode measurements derived from the echocardiogram for these patients included LV end-diastolic dimension (EDD), LV endsystolic dimension (ESD), and ejection fraction. Dimensions were indexed to age and body surface area to allow comparison with previously published normal values. 2,3 These measurements were recorded from the first and the most recent echocardiogram to determine any changes in LV dimensions and function that occurred over time. Associations between LVEDD and mitral valve prolapse or aortic root dilation were evaluated to determine if patients with mitral valve prolapse or aortic root dilation had higher LVEDD than those without these syndromes. The predicted normal value and the corresponding range for LVEDD and LVESD were calculated for each patient according to their age and body surface area using regression equations 2,3 previously developed for that purpose. The observed dimensions then were scaled relative to the predicted normal value, and reported as the percentage of the corresponding mean predicted dimension. The resulting values that were reported correspond to the observed dimension divided by the predicted normal value 100. The 95% confidence intervals of the averages of these rescaled dimensions were calculated using the formula: mean tn1, 0.025 SE, where tn1, 0.025 is the 2-sided critical value obtained from the t distribution with n1 degrees of freedom. For each dimension, the number of patients having an observed dimension beyond the predicted normal range was tabulated. Exact 95% confidence intervals were calculated for the percentage of patients with extreme observed dimensions using the binomial distribution. Exact binomial tests were used to compare the percentage of extreme values to the 5% extreme values that would be expected in a normal population. The association between LVEDD and mitral valve prolapse or aortic root dilation was assessed using a 2-sample t test. To compare the dimensions on the first and the last echocardiogram, values were scaled relative to the predicted normal range, given the age and body surface area, using the formula: scaled value (observed predicted normal for the given age and body surface area)/(half-width of normal range). These scaled values provide a measure of how extreme the observed dimension is relative to the entire normal predicted range. The scaled values on the first and last echocardiograms were compared using paired t tests. A 2-sided p value 0.05 was considered statistically signi ficant.

Transesophageal echocardiography: Unusual case of anomalous pulmonary venous connection to the azygos vein

Partial anomalous pulmonary venous connection, a rare congenital anomaly, most commonly involves the right lung, with one or more pulmonary veins anomalously connecting most frequently to the superior vena cava and less commonly to the right atrium or inferior vena cava. This article describes an unusual case of anomalous pulmonary venous connection of the right lung to the azygos vein in an adult. This anomaly was clearly delineated with angiography, computed tomography of the chest, and transesophageal echocardiography. The transesophageal echocardiographic features of the anomaly are described as a means to prevent further diagnostic misinterpretation.