Uhls anomaly, arrythmogenic right ventricular dysplasia, parchment heart. Electrocardiographic gated multislice computed tomography of. Single ventricle strategy for uhls anomaly of the right. Also known as parchment heart, it is characterized by partial or complete absence of the right ventricular rv myocardium, with severe rv systolic and diastolic impairment. We report mri of the heart from a 17yearold boy with uhls anomaly. Giant p wave in a patient with right ventricular cardiomyopathy. Here we first report a 16yearold male patient with uhl s anomaly which appears with cardiac tamponade. Arrythmogenic right ventricular dysplasia cardiomyopathy arvdc is characterized by local deficiency or fibrofatty replacement of the right ventricular myocardium. We present a case of uhl s anomaly parchment heart in a newborn baby. Ebsteins anomaly genetic and rare diseases information. Ua is commonly confused with arrhythmogenic right ventricular dysplasia or ebsteins anomaly. Uhls disease is a rare congenital cardiac anomaly characterized bypartial or complete absence of the right ventricular free wall myocardium, which is replaced by. It most commonly presents in prenatal or newborn infants. Qrs alternans due to localized intraventricular block during.
Uhls anomaly is an extremely rare congenital heart defect characterized by partial or complete absence of right. Methodfive cases with a primary deficiency of the right. We report a longterm survivor with uhl s anomaly who underwent one and a half ventricle repair combined with a partial right ventriculectomy in infancy, followed by successful total cavopulmonary. We report a patient with severe dilated congestive cardiomyopathy limited to the right ventricle but apparently developing in adulthood. A 26yearold man presented with progressively worsening dyspnoea on exertion since the past 6 months. He was referred to our centre with the initial diagnosis of secundum type atrial septal defect and tricuspid regurgitation see online appendix 1 based on a transthoracic echocardiography. Rare case report of uhls anomaly versus arrythmogenic right. Cardiac arrest in an adolescent with uhls anomaly two. Pdf giant p wave in a patient with right ventricular. Of these, uhls anomaly and arrhythmogenic right ventricular dysplasia are most often used. Uhls anomaly of the right ventricle is an unusual cardiac disorder with almost complete absence of right ventricular myocardium, normal. We report a 2monthold infant undergoing surgical treatment for uhl s anomaly with.
A fullterm male neonate was born cyanotic with an apgar score of 7 and sao 2 of 82% on room air. Author links open overlay panel reginald chounoune a adam lowry b karthik ramakrishnan a gail d. Ct of uhls anomaly in an adult ct of uhls anomaly in an adult cheng, june. Of these, uhl s anomaly and arrhythmogenic right ventricular dysplasia are most often used. Uhls disease, also known as uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, after complete cardiac development, leading to the absence of right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure.
The main prognostic factors of uhls anomaly are ventricular arrhythmias and rightsided heart failure. Although the exact mechanisms by which these events are initiated or terminated remain poorly understood, it is clear that their. In this patient an interesting manifestation is a transient atrial flutter with complete av block. Cardiac magnetic resonance imaging mri is the gold standard diagnostic tech. Electrocardiographic gated multislice computed tomography. Uhls anomaly ua is a rare congenital malformation described as the partial or complete absence of the myocardium of the right ventricle. Pdf we report the case of an 8monthold female infant with uhls anomaly, who underwent successful cardiac transplantation. Uhls anomaly is an extremely rare congenital heart disease that is characterized by absence of the right ventricular myocardium. Uhl anomaly definition of uhl anomaly by medical dictionary. A 12 year old boy was admitted with the complaint of fatigue with effort.
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 parchmentlike appearance. Right ventricular cardiomyopathy similar to uhls anomaly. Few reports of surgical management exist in literature. Uhls anomaly is an extremely rare congenital heart defect. Uhls anomaly complicated with critical ventricular arrhythmia in a 2. Uhls anomaly complicated with critical ventricular. Case report introduction uhls anomaly of the right ventricle is. Aug 08, 2019 objective uhls anomaly, a very rare anomaly with unknown aetiology, is characterized by complete or partial absence of the myocardium of the right ventricle. Surgical options for uhls anomaly jyoti prasad kalita. Google map of libraries printable brochure of library addresses pdf updated.
Uhls anomaly is a rare myocardial condition first described by henry uhl in 1952 11. A previously undescribed congenital malformation of the heart. Henry uhl 19212009 upon examining one of his patients. Patent foramen ovale with right to left shunting was also noted. Her thyroid profile was positive for antithyroid microsomal antibody, and antithyroid peroxidase antibodies were suggestive of autoimmune hypothyroidism. It appears to be of congenital origin but is rarely associated with other cardiac malformations. Severe primary tricuspid regurgitation with large tunnel. Longterm followup of a patient with uhl anomaly after. Uhl anomaly, arrhythmogenic right ventricular dysplasia.
The prognosis in the case of an infant is uniformly poor. We report a longterm survivor with uhls anomaly who underwent one and a half ventricle repair combined with a partial right ventriculectomy in infancy, followed by successful total cavopulmonary conversion with right ventricular exclusion 5 years later. Pdf large right ventricle thrombus in uhls anomaly. Anomaly detection overview in data mining, anomaly or outlier detection is one of the four tasks. Clinical presentation and echocardiographic characteristics. Here we first report a 16yearold male patient with uhls anomaly which appears with cardiac tamponade. Since the original description in 1952,1 idiopathic right ventricular myocardial hypoplasia in association with right ventricular dilation uhls anomaly has been documented in children28 and a few adults.
Surgical options for uhls anomaly jyoti prasad kalita, nilajan. Download as pdf print show related cases notify admin. Uhls anomaly of the right ventricle is an unusual cardiac disorder with almost. We present three patients with this anomaly who were managed with different surgical strategies. Uhls disease is a rare congenital cardiac anomaly characterized by partial or complete absence of the right ventricular free wall myocardium, which is replaced by fibroelastic and adipose tissue. There was no associated right ventricular outflow tract obstruction or pulmonary atresia. We report the case of an 8monthold female infant with uhl s anomaly, who underwent successful cardiac transplantation. Uhls anomaly is a very rare congenital cardiac abnormality of unknown cause and is characterized by complete or partial absence of the right ventricular rv myocardial layer. An echocardiogram obtained on the first day of life, showed ebstein s anomaly with severe tricuspid regurgitation. Ebsteins anomaly is a rare congenital cardiac malformation prevalence 0. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Knowledge about apoptosis has become essential for understanding many aspects of cardiac structure and function. P574diagnosis of uhl anomaly in infancy, role of cmr.
Objectivesince 1905 there have been many reports of cases in which the right ventricle was deficient in myocardium. Uhls anomaly is an extremely rare congenital heart defect characterized by a near total absence of the myocardium of the parietal wall of the right ventricle. Uhls anomaly is characterized by absence of the myocardial layer of the right ventricle, with apposition of the endocardium and epicardium. Right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia is considered a cause of lifethreatening arrhythmia 1,2. The uhl anomaly is a partial or total loss of the myocardial muscle in the right ventricle. We report a case of uhls anomaly in a 2monthold infant who presented with critical ventricular arrhythmia. Uhl s anomaly is a very rare congenital cardiac abnormality of unknown cause and is characterized by complete or partial absence of the right ventricular rv myocardial layer, which is replaced by fibroelastic tissue.
Uhl considered the disease to be congenital in origin. It has often been confused with arrythmogenic right ventricular dysplasia. The echocardiographic findings in a case of uhls anomaly, or congenital hypoplasia of the right ventricular myocardium, are reported. A one and a half ventricular repair in a patient presenting with cardiac arrest. Uhls anomaly is a very rare anomaly with unknown aetiology, characterized by congenital partial or complete absence of right ventricular myocardium. Diastolic opening of the pulmonary valve is described. Mar 30, 2005 uhls anomaly is an extremely rare condition of unknown cause characterized by complete or partial absence of the right ventricular myocardial layer, which is replaced by nonfunctional fibroelastic tissue. A rarely seen congenital malformation in an elderly patient. A case of right ventricular thrombus formation in uhls. Browse, borrow, and enjoy titles from the upper hudson library system digital collection. Stress electrocardiography in uhls anomaly with mitral. Ct of uhls anomaly in an adult, the international journal. Uhl s disease is a rare disorder originally described in 1952 in an infant with severe diffuse right ventricular dysfunction with total absence of the myocardium. Ebsteins anomaly is a rare heart defect in which parts of the tricuspid valve which separates the right ventricle from the right atrium are abnormal.
Several terms have been used to describe this condition. While ventricular arrhythmias predominate, there are case reports. Single ventricle strategy for uhls anomaly of the right ventricle the annals of thoracic surgery. On physical examination, he had a systolic murmur at the left sternal border with inspiratory. Uhls anomaly is a rare disease that consists in the absence of the rv myocardium and progressive rv failure. Patients usually present with symptoms in infancy and rarely survive to adulthood. This latter case was named uhl anomaly or uhl disease after the author, and though originally regarded to be the same as ac, uhl anomaly appears to reflect a distinct entity, and these terms are no longer accepted as interchangeable. We present a novel and successful surgical technique to treat this difficult condition. 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. The response to medical management is poor and there is no known ideal surgical approach or timing for treatment.
Uhls 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. Classi cation clustering pattern mining anomaly detection historically, detection of anomalies has led to the discovery of new theories. Case report introduction uhls anomaly of the right ventricle is an unusual cardiac disorder with the almost com. Uhls anomaly, first reported in 1952, is an extremely rare congenital cardiac defect characterized by partial or. Uhls anomaly is an extremely rare condition of unknown cause characterized by complete or partial absence of the right ventricular myocardial layer, which is replaced by nonfunctional fibroelastic tissue. Stress electrocardiography in uhls anomaly with mitral valve. A case of uhl anomaly treated with one and a half ventricle. Qrs alternans due to localized intraventricular block. Conclusion uhls anomaly is a rare cause of cardiomegaly, and echo cardiography and cardiac mr images are beneficial in the diagnostic process of this anomaly. Parchment heart is a rare congenital heart condition where the myocytes are absent in the right ventricle which results in right ventricular failure and arrhythmia. Learn vocabulary, terms, and more with flashcards, games, and other study tools. In the human heart there are major periods of morphogenesis that begin only after birth, and some of these processes recur intermittently for many years. Rare case report of uhls anomaly versus arrythmogenic.
However, presentation of uhls anomaly in small children particularly the infants is uncommon. Dec 01, 2003 read uhl s anomaly complicated with critical ventricular arrhythmia in a 2monthold infant, european journal of cardiothoracic surgery on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Uhls disease is a rare disorder originally described in 1952 in an infant with severe diffuse right ventricular dysfunction with total absence of the myocardium. Associations with other congenital heart diseases, familial occurrency, sudden death and arrhythmia with uhls. Uhls anomaly is a rare cardiac malformation that results in partial or complete absence of the right ventricular myocardium. It can be seen together with some other congenital anomalies. Arvd cardiomyopathy, and right ventricular outflow tract tachycardia, are disorders. Uhls anomaly is a rare congenital hypoplasia of the right ventricular rv myocardium. We report a case of uhls anomaly imaged at 19 weeks of gestation by fetal echocardiography with pathological confirmation by anatomical gross heart.
The disease causes progressive rightsided heart failure, increased rightsided cardiac pressure, massive peripheral edema, and ascites. Fetal and neonatal presentation in ebsteins anomaly is predicted to have a poor overall prognosis2, 3 as the age at presentation is. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. The authors declare that there is no conflict of interest. A yearold girl presented with progressive dyspnoea and palpitation, diagnosed on echocardiography as primary right ventricular cardiomyopathy with atrial fibrillation. She was managed with furosemide, digoxin, acenocoumarol and. Uhls 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 parchmentlike appearance. Uhl s anomaly is a rare condition and surgical techniques are few and have had variable success. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Uhls anomaly is a rare condition and surgical techniques are few and have had variable success.
The clinical findings, complementary laboratory tests, anatomic findings, and differential diagnosis of the anomaly are discussed. Uhl anomaly is exceedingly rare and is characterized by right ventricular cardiomyopathy with absence of the myocardial layer of the right ventricle rv parietal wall, resulting in parchment rv. Uhl s anomaly, a very rare anomaly with unknown etiology, is characterized by congenital hypoplasia of the right ventricular myocardium 1,2. Ct of uhls anomaly in an adult, the international journal of. Four decades of progress help people to better understand its pathological electrogenesis and diagnostic value. Herewith, we reported an infant with uhls anomaly and described the role of cmr in the diagnosis. Uhl s anomaly is a rare congenital hypoplasia of the right ventricular rv myocardium. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation institutional and national and with the helsinki declaration of 1964 and later versions.
Since the original description in 1952,1 idiopathic right ventricular myocardial hypoplasia in association with right ventricular dilation uhl s anomaly has been documented in children28 and a few adults. Longterm survival of uhls anomaly with total cavopulmonary. We report an adult patient with right ventricular cardiomyopathy similar to uhl s anomaly. Objective uhls anomaly, a very rare anomaly with unknown aetiology, is characterized by complete or partial absence of the myocardium of the right ventricle. Our patient is 12year old male with a history of uhls anomaly and regular followup who was. Complications that result can be divided into either right ventricular dysfunction with congestive heart failure, or arrhythmias. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. Steadystate freeprecession ssfp cardiac mri images demonstrated a marked dilatation of the right atrium and the right ventricle with the comple. A rarely seen congenital malformation in an elderly. Isolated right ventricular cardiomyopathy with autoimmune.