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Uhl's anomaly is characterized by complete or partial absence of right ventricular myocardium. We describe a case of prenatally diagnosed Uhl's anomaly with biventricular dysfunction which was quantified with speckle tracking echocardiography using a novel fetal heart quantification (fetal HQ) technique. [ABSTRACT FROM AUTHOR]

Uhl’s anomaly is a very rare malformation of unknown cause, characterized by complete or partial absence of the right ventricular myocardium. The cardiac malformation causes progressive right heart failure, increased right-sided cardiac pressure, massive peripheral edema, and ascites. Patients usually present in infancy and rarely survive to adulthood. Previously, diagnosis was made at post-mortem evaluation, but advances in cardiac imaging now permit diagnosis during fetal life. We report a case of Uhl’s anomaly in a newborn baby imaged at 23 + 3 weeks of gestation by fetal echocardiography. There was an aneurysmally dilated thin-walled right ventricle with hypertrophy of the right ventricular apical muscles, the tricuspid valve was dysplastic, and the pulmonary valve leaflets were absent. [ABSTRACT FROM AUTHOR]

We report the case of a 31-year-old man with Uhl's anomaly. Echocardiography revealed severely enlarged nonfunctioning right ventricle and unusual findings of the premature opening of the pulmonary valve along with substantial forward flow during late-diastole, indicating that pulmonary circulation was largely dependent on compensatory right atrial contraction. Moreover, right-to-left shunt through the patent foramen ovale (PFO) achieved systemic circulation at the expense of severe hypoxia. During accelerated idioventricular rhythm (AIVR) accompanied by ventriculo-atrial (VA) conduction, hypoxemia deteriorated further because of an increased right-to-left shunt through the PFO. We report the case of an adult with Uhl's anomaly whose hemodynamics was largely dependent on the ventricularized right atrium and PFO. Although the unique hemodynamics contributed to his survival into adulthood, detrimental aspects manifested themselves during AIVR with VA conduction like a "double-edged sword." < Learning objective: Uhl's anomaly is a rare congenital heart disease, characterized by the absence of right ventricular myocardium. Thus, once diagnosed with Uhl's anomaly in childhood, patients rarely survive to attain adulthood owing to progressive right ventricular deterioration. Although this patient could survive into adulthood by virtue of the "ventricularized right atrium" and the presence of a patent foramen ovale, these unique hemodynamics could be a "double-edged sword" during repeated accelerated idioventricular rhythm with ventriculo-atrial conduction.> [ABSTRACT FROM AUTHOR]

Uhl’s anomaly, first reported in 1952, is an extremely rare congenital cardiac defect characterized by partial or complete loss of the right ventricular myocardium and unknown etiology. Fewer than 100 cases have been described. The response to medical management is poor and there is no known ideal surgical approach or timing for treatment. We report the case of a previously active adolescent male presenting with cardiac arrest, who underwent successful bidirectional cavopulmonary anastomosis (“Glenn” anastomosis) with right atrial reduction and right ventricular free wall plication.

Uhl's anomaly is a rare congenital heart disease characterized by partial or complete absence of the right ventricular myocardium and high early mortality rates. We describe a case of Uhl's anomaly in a 27-year-old young male patient presenting with portal hypertension and esophageal varices. In this article, we review the literature associated with this condition and highlight a rare presentation of a rare disease. This report adds to our current knowledge of this exceedingly rare disorder.

Uhl's anomaly is a rare cardiac malformation that results in partial or complete absence of the right ventricular myocardium. It most commonly presents in prenatal or newborn infants; however, it may also be found in some adults as advanced right-sided heart failure. Differential diagnoses include arrhythmogenic right ventricular dysplasia and Ebstein's anomaly. Herein, we describe the clinical presentation of Uhl's anomaly in a previously undiagnosed middle-aged adult, and review the echocardiographic criteria used to diagnose and differentiate this rare, albeit important, myocardial disorder. [ABSTRACT FROM AUTHOR]

Uhl's anomaly is a rare congenital heart disease characterized by partial or complete absence of the right ventricular myocardium and high early mortality rates. We describe a case of Uhl's anomaly in a 27-year-old young male patient presenting with portal hypertension and esophageal varices. In this article, we review the literature associated with this condition and highlight a rare presentation of a rare disease. This report adds to our current knowledge of this exceedingly rare disorder. [ABSTRACT FROM AUTHOR]

We report a newborn with an unusual combination of aneurysmally dilated thin-walled right ventricle with hypertrophy of the apical muscles of the right ventricle. There was narrow pulmonary annulus, pulmonary regurgitation, and hypoplasia of the mitral valve and left ventricle. We propose that this heart represents a partial form of Uhl`s anomaly.

Uhl’s anomaly, first reported in 1952, is an extremely rare congenital cardiac defect characterized by partial or complete loss of the right ventricular myocardium and unknown etiology. Fewer than 100 cases have been described. The response to medical management is poor and there is no known ideal surgical approach or timing for treatment. We report the case of a previously active adolescent male presenting with cardiac arrest, who underwent successful bidirectional cavopulmonary anastomosis (“Glenn” anastomosis) with right atrial reduction and right ventricular free wall plication. [ABSTRACT FROM AUTHOR]

An extremely rare form of Hypoplastic left heart syndrome (HLHS) is reported in this article. Typically, HLHS presents with the hypoplastic or completely absent left ventricle, however, in this case, it presents with significant dilatation and extreme thinning of the left ventricular wall. A rare cardiac condition, which is described by the total absence of myocardium of the right ventricle resulting in apposition of the endocardium and epicardium, is referred to as Uhl's Anomaly. There is no pathology described that is associated with the absence or thinning of the myocardium of the left ventricle. • Hypoplastic Left Heart Syndrome is one of the most complex congenital heart defects; • Components of structural defects of HLHS typically include pathology of the left chambers of the heart - mitral valve hypoplasia and/or an interruption of the aortic arch; • HLHS is usually associated with extracardial abnormalities such as craniofacial abnormalities, as well as defects of the gastrointestinal tract, urogenital and nervous system; • A rare cardiac condition in which there is total absence of right ventricular myocardium resulting in apposition of the endocardium and epicardium is referred as Uhl's Anomaly; • Extreme thinning of the myocardium of the left ventricle, associated with HLHS is a very rare condition, that has no cure; [ABSTRACT FROM AUTHOR]

Uhl's anomaly (UA) is a rare congenital malformation described as the partial or complete absence of the myocardium of the right ventricle. UA is commonly confused with arrhythmogenic right ventricular dysplasia or Ebstein's anomaly. Cardiac magnetic resonance imaging (MRI) is the gold standard diagnostic technique for the differential diagnosis of UA. Here, we report a rare case of UA which had been misdiagnosed as Ebstein's anomaly in a 62-year-old female. [ABSTRACT FROM AUTHOR]

Objective -- Uhl's anomaly, a very rare anomaly with unknown aetiology, is characterized by congenital hypoplasia of the right ventricular myocardium. In this paper, we aim to discuss the clinical findings and the imagining methods. Case report -- A six-month-old case was referred us for cardiomegaly. Echocardiography showed a hugely dilated and diffuse hypokinetic right ventricle, magnetic resonance images and cardiac catheterization proved the diagnosis of Uhl's anomaly. Conclusion -- Uhl's anomaly is a rare cause of cardiomegaly, and echocardiography and cardiac MR images are beneficial in the diagnostic process of this anomaly. [ABSTRACT FROM AUTHOR]

Among the right ventricular conditions, Uhl's anomaly, arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C) and right ventricular outflow tract ventricular tachycardia (RVOT VT) are disorders that exhibit pathogenic changes involving the right ventricular (RV) myocardium, and are expected to be severe or milder forms of the same condition. The review focuses on the aspect whether the three RV disorders are a spectrum of the same disease. ARVD/C is the only condition among these to be genetically well characterized. Also, variations in the clinical expression of ARVD/C due to the genetic heterogeneity are examined. Based on clinical manifestations, age at onset, gender ratio and the possible molecular mechanisms implicated, Uhl's anomaly, ARVD/C and RVOT VT may be considered as separate entities. Further, to differentiate between the three RV disorders, the molecular studies on ARVD/C might be helpful. An attempt was made to differentiate between the eleven different types of ARVD/Cs based on clinical symptoms presented including the progression of the disease to the left ventricle, ventricular arrhythmias and clinical characteristics like ECG, SAECG, ECHO and histopathological studies. [ABSTRACT FROM AUTHOR]

Transplant indications for right ventricular (RV) cardiomyopathy have not been defined. We report on two boys, aged 18 and 17 years, one with arrhythmogenic right ventricular cardiomyopathy (ARVC) and one with Uhl's anomaly. Both had implantable cardioverter defibrillator (ICD) for the prevention of sudden death (SD), but were not considered urgent heart transplant candidates due to the absence of heart failure symptoms. A ventricular tachycardia-induced cardiac collapse occurred at school in the Uhl patient and in hospital in the ARVC patient. In both patients, ICD shocks intermittently restored sinus rhythm but with inadequate circulation. Only the ARVC patient received early chest compressions and was saved to heart transplantation. Due to RV failure, both patients had evidence of Fontan-type physiology, in whom pulmonary blood flow is passive and propelled by the transpulmonary pressure gradient and intrathoracic pressure alterations produced by breathing. In these cases, at resuscitation, systemic circulation is not established until after pulmonary blood flow is restored by breathing or chest compressions. An ICD alone is therefore not sufficient for the prevention of SD. When invasive data show evidence of Fontan-type circulation, the patient may be considered for heart transplantation. [ABSTRACT FROM PUBLISHER]

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that predominantly affects the right side of the heartand causes ventricular arrhythmias. In many patients the disease is familial. ARVC may account for as many as 5% ofunexpected sudden deaths. We report a case of ARVC diagnosed at 21 weeks gestation treated with an implantable cardiacdefibrillator. The remainder of her pregnancy was uneventful and the patient underwent induction of labor at 39weeks gestation with a passive second stage forceps-assisted delivery resulting in delivery of a normal infant. In the gravidawith cardiac arrhythmias, defibrillator placement may offer a safe, life-preserving treatment and should be considered. [ABSTRACT FROM AUTHOR]

Uhl's anomaly is characterized by absence of the myocardial layer of the right ventricle, with opposition of the endocardium and epicardium. It is rarely associated with other congenital malformation. Here, we reported the rare association of Uhl's anomaly with absent tricuspid valve in an infant. [ABSTRACT FROM AUTHOR]

We report a case of Uhl’s anomaly in a 3-week-old infant that underwent central shunt placement, patent duct us arteriosus and main pulmonary artery ligation. The infant presented with room air saturation of 43%, dilated right ventricle with decreased function and dilated right atrium. Diagnosis was established with a myocardial biopsy. [ABSTRACT FROM AUTHOR]

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We present a case of Uhl's anomaly (parchment heart) in a newborn baby. We consider the clinical, haemodynamic and angiographic findings and describe the diagnostic difficulties, the unsuccessful outcome of medical and surgical therapy, and the complete anatomic picture. [ABSTRACT FROM AUTHOR]

Right ventricular dysplasia (RVD) is a cardiac anomaly characterized by replacement of right ventricular myocardium by adipose and fibrous tissue that was first described at autopsy, and is now being recognized pre-mortem. Sudden death and ventricular arrhythmias are the most common clinical manifestation of the condition. This paper reviews the literature on myocardial biopsies performed in patients with idiopathic arrhythmias who had pathologic findings consistent with RVD, and the results of biopsies from patients suspected of having RVD. The significance of sampling error in myocardial biopsies, possible familial associations, and other conditions associated with myocardial adipose infiltration are also discussed. Based on the review, the possibility is raised that RVD may represent the end result of an unusual healing process, whereby genetically susceptible individuals recover from a variety of RV insults by deposition of adipose tissue. These fatty scars may then be the focus for arrhythmias which remain the major clinical manifestation of the syndrome. [ABSTRACT FROM PUBLISHER]

The echocardiographic features of six patients with isolated right ventricular dilated cardiomyopathy and two with Uhl's anomaly are described. The M-mode echocardiogram was similar in both groups showing increased right ventricular dimensions and normal or paradoxical septal motion. Cross-sectional echocardiography confirmed a dilated but poorly contracting right ventricle. However, patients with right ventricular cardiomyopathy had normal ventricular wall thickness, whereas those with Uhl's anomaly showed areas of thin right ventricular myocardium. These areas of the right ventricle also exhibited regional wall motion abnormalities. In conclusion, cross-sectional echocardiography can be used to differentiate between these two forms of right ventricular enlargement. [ABSTRACT FROM PUBLISHER]

Competing Interests: Funding Support and Author Disclosures The authors have reported that they have no relationships relevant to the contents of this paper to disclose.

We report a newborn with an unusual combination of aneurysmally dilated thin-walled right ventricle with hypertrophy of the apical muscles of the right ventricle. There was narrow pulmonary annulus, pulmonary regurgitation, and hypoplasia of the mitral valve and left ventricle. We propose that this heart represents a partial form of Uhl&grave;s anomaly. [ABSTRACT FROM AUTHOR]

Abstract: Uhl''s anomaly is a myocardial disorder of unknown cause that is characterized by complete or partial absence of the myocardium of the right ventricle. The disease may represent a cause of right heart dilatation and failure. Although most cases of Uhl''s anomaly end fatally in infancy or childhood, an initial presentation during adulthood has been reported in rare cases. We report a very rare case of partial absence of the right ventricular musculature or partial Uhl''s anomaly that incidentally found in asymptomatic adult man. [Copyright &y& Elsevier]