Uhl's anomaly. Differential diagnosis and indication for cardiac transplantation in an infant

Abstract

We report the case of an 8-month-old female infant with Uhl's anomaly, who underwent successful cardiac transplantation. The clinical findings, complementary laboratory tests, anatomic findings, and differential diagnosis of the anomaly are discussed.In the past, the diagnosis of Uhl's anomaly was usually made on autopsy. Currently, the development of graphic and imaging methods have made an early and more accurate clinical diagnosis possible, even though controversies about its etiopathogeny still remain. We report the case of a female infant with Uhl's anomaly, who underwent successful cardiac transplantation, with special emphasis on the clinical findings and complementary laboratory tests, such as chest X-ray, electrocardiography, echocardiography, magnetic resonance imaging, hemodynamic study, and anatomicopathological study of the heart. Case reportThe patient was an 8-month-old female infant with a history of deficient weight and height since the age of 3 months, and congestive heart failure since the age of 6 months.On physical examination, the infant was in good general condition, slightly tachypneic, acyanotic, and her pulses were present and symmetric. In the precordia, systolic impulsions were visible in the lower left sternal margin. On cardiac auscultation, a mild systolic murmur could be heard in the lower left sternal margin. There was a m oderate hepatomegaly.On chest X-ray ( fig. 1), a marked cardiomegaly with a slight increase in the pulmonary vascular net could be seen. Electrocardiography showed right atrial and ventricular hypertrophy ( fig. 2).Doppler echocardiography showed an important tricuspid insufficiency, marked dilation of the right ventricle with diffuse hypokinesia, presence of a discrete pericardial effusion, and thrombus on the anterior wall of the right ventricular inlet. Left ventricular shortening fraction was 36%.The radionuclide angioventriculography revealed left and right ventricular ejection fractions of 35% and 20%, respectively.On cardiac catheterization, the presence of marked dilation of the right atrium and ventricle was confirmed, as were an important tricuspid insufficiency and a thrombus in the right ventricle. Manometry showed a mean pressure of 14mmHg in the right atrium, and pressure of 20/14mmHg in the right ventricle and pulmonary trunk ( fig. 3).Magnetic resonance imaging showed, in addition to the marked enlargement of the right atrium, a clear reduction in thickness of the right ventricular wall.Despite intensive treatment, no clinical improvement was observed. The patient underwent orthotopic cardiac transplantation at the age of 11 months and was evolving clinically well 6 months after the procedure.Anatomicopathological study -The cardiac segment analyzed comprised the ventricles and most of the right atrium, in addition to the proximal segments of the pulmonary trunk and ascending aorta. The tricuspid valve was inserted in its habitual position with no fusion of the cusps, but with a moderate dilation of the valvar ring. Their cords were thin and del...

Uhl′s anomaly with absent tricuspid valve in an infant

“…In Uhl's anomaly, the affected wall does not have a fat tissue, and endocardial and epicardial layer lie parallel to each other whereas in ARVD, is the replacement of myocardial cell by fibrous fatty tissue. [2345] Uhl's anomaly has been reported in identical twins and has been diagnosed in utero. [6] A failure during embryonic development of the right ventricular myocardium occurs is a possible cause.…”

“…[78] It may be associated with other congenital cardiac malformation such as tricuspid valve anomalies, pulmonary atresia, patent ductus arteriosus, atrial septal defect and Ebstein's anomaly. [4] Congenitally unguarded tricuspid orifice is a rare anomaly, and few cases of antemortem diagnosis have been reported in the literature. Kanjuh et al .…”

Uhl’s Anomaly: A Rare Cause of Cardiomegaly

“…In the past, the diagnosis of Uhl's anomaly was usually made on autopsy, but today, with the progress of ECHO and MRI, an early diagnosis is possible (5). Cardiac catheterisation may be harmful in Uhl's anomaly (4).…”

Right ventricular cardiomyopathy: timing of heart transplantation in Uhl's anomaly and arrythmogenic right ventricular cardiomyopathy

“…ARVC affects approximately 1/5000 people, with a variable proportion of cases being hereditary . In the comparatively rare Uhl's anomaly, there is complete absence of myocardium in the RV free wall, typically leading to RV failure in childhood and, to a lesser extent, VT ,,. Although Uhl's anomaly is a separate clinical entity, it has been considered as the extreme variant of ARVC …”