Absence Of Right Ventricular Myocardium Research Articles

Uhl's Anomaly in Adulthood.

Uhl's anomaly is a rare congenital syndrome characterized by the absence of right ventricular myocardium. The widely accepted pathological mechanism is intrauterine myocardial apoptosis. Uhl's syndrome carries a poor prognosis. In rare situations, patients with Uhl's anomaly reach adulthood. We will present a case of a 29-year-old patient with Uhl's syndrome treated at our center, highlighting the diagnostic, surgical, and postoperative challenges in management.

乳児期に診断し長期経過観察しているUhl病の一例

Uhl’s anomaly is a rare cardiac disease of unknown etiology characterized by a markedly distended right ventricle because of partial or complete absence of right ventricular myocardium, which consequently develops a parchment-like appearance. Patients usually present with symptoms in infancy and rarely survive to adulthood. We report the case of an 18-year-old patient with Uhl’s anomaly who was diagnosed in infancy and survived to adulthood without symptoms of heart failure. Angiocardiography at the age of 6-years showed a dilated right ventricle. Magnetic resonance imaging (MRI) at the age of 12-years showed an extremely dilated thin-walled right ventricle with almost complete absence of right ventricular myocardium. At the age of 15-years, his MRI images showed further dilatation of the right ventricle. Follow-up examinations revealed to manifestation of right heart failure, despite persistent right ventricular dilatation and impaired function. This case may be useful for understanding the natural history of Uhl’s anomaly.

Thiamine responsive megaloblastic anemia: The puzzling phenotype

Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with TRMA. Our aim is to discuss the clinical manifestations of all Omani children diagnosed with TRMA and determine genotype-phenotype relationship. Clinical and laboratory data of all patients diagnosed in Oman were retrospectively collected. Mutation analysis of affected families was conducted using two Microsatellite markers. Genotyping was performed with fluorescent-labeled PCR primers. To define the deletion breakpoint region, PCR reactions were carried out using different primer pairs located at the introns 3 and 3'-untranslated region with Expand Long Template PCR kit. A total of six children have been diagnosed with this syndrome. They were five females and one male. They all presented with sensorineural deafness at birth while the age of anemia presentation ranged between 6 weeks to 19 months. They all belong to same family with complex interfamilial marriages and presented with the typical triad. Of interest is the very rare presentation of one patient with Uhl cardiac anomaly (total absence of right ventricular myocardium with apposition of endocardium and pericardium) that has never been described before in patients with TRMA. All patients have a novel large deletion of 5,224 bp involving exons 4, 5, and 6 of SLC19A2. TRMA is a disease of expanding phenotypic spectrum with poor genotype-phenotype correlation.

Electrocardiogram, Echocardiography, and Magnetic Resonance Imaging Characteristics in Uhl’s Disease

Uhl’s disease is a very rare affection that was originally described in 19521; few cases have been reported in the literature. It is caused by isolated right ventricular enlargement and failure with partial or total absence of right ventricular myocardium. It was first considered to be a congenital development failure in the human embryo in its early stages. However, more recent publications incriminate apoptotic anomalies for right ventricular muscle agenesy.2–3 Surgical correction has been attempted, without success.4 Cardiac transplantation may be proposed when patients become …

Congenital Aplasia of the Right Ventricular Myocardium (Uhl's Anomaly)

A case of congenital absence of right ventricular myocardium is reported in a child five years of age. An extremely distended right ventricle occupied the major part of the left hemithorax, compressed the left lung and shifted the mediastinum to right. The diagnosis was missed clinically and the real condition was revealed at exploratory thoracotomy. Child expired within few hours of operation and autopsy examination confirmed the diagnosis.