2023, Number 1
<< Back Next >>
Investigación en Discapacidad 2023; 9 (1)
Uhl's anomaly, a rare disease. Case report
Ortega-Zhindón DB, Calderón-Colmenero J, Pérez-Hernández N, Rodríguez-Pérez JM, Mora-Canela SL, Cervantes-Salazar JL
Language: Spanish
References: 8
Page: 24-27
PDF size: 216.58 Kb.
ABSTRACT
Uhl's anomaly is a rare heart disease characterized by a dilated and thin-walled right ventricle due to the absence of myocardium. The hypothesis is an alteration in embryonic development and apoptosis of the myocardium in the right ventricle. It presents with heart failure. The definitive diagnosis is determined by pathological anatomy; however, the echocardiographic and magnetic resonance findings allow us to approach the diagnosis. There is no standard treatment, so it is initially medical and symptomatic. Surgical options range from palliative surgery to heart transplant, but the prognosis is uncertain. We present the case of an infant with dyspnea and diaphoresis.
REFERENCES
Osler WM. The principles and practice of medicine; 6th ed. New York: D. Appleton; 1905. p. 280.
Cadavid-Betancur AM, Díaz-Medina LH, Lince-Varela R, Delgado-de Bedout JA. Anomalía de Uhl: presentación de un caso y revisión de la literatura. Arch Cardiol Mex. 2006; 76: 419-423.
Uhl HS. A previously undescribed congenital malformation of the heart: Almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hos. 1952; 91: 197-209.
Uhl HS. Uhl anomaly revisited. Circulation. 1996; 93: 1483-1484.
Venkatesh S, Prabhu S, Thakkar M, Kulkarni S. A case of Uhl anomaly with right ventricular failure. Sri Lanka Journal of Child Health. 2018; 47 (1): 80-82.
Uozumi T, Fujita Y, Tsukimori K, Fusazaki N, Nakano T, Kado H et al. Prenatal ultrasonographic diagnosis of Uhl anomaly. Case Rep Perinat Med. 2015; 4 (1): 57-60.
Lozano-Espinosa DA, Eraso-Díaz del Castillo AM, Ronderos-Dumit MA, Stapper-Ortega CM, Peña-Graca JP, Mestra-Durango CF. Uhl's anomaly: a rare disease with few therapeutic options. Progress in Pediatric Cardiology. 2020; 57: 101227.
Yoshii S, Suzuki S, Hosaka S, Osawa H, Takahashi W, Takizawa K, et al. A case of Uhl anomaly treated with one and a half ventricle repair combined with partial right ventriculectomy in infancy. J Thorac Cardiovasc Surg. 2001; 122 (5): 1026-1028.