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Transplantation Proceedings Nov 2021Uhl's anomaly is an extremely rare congenital heart defect characterized by absence of the right ventricle myocardium and preserved left ventricular myocardium. Although...
BACKGROUND
Uhl's anomaly is an extremely rare congenital heart defect characterized by absence of the right ventricle myocardium and preserved left ventricular myocardium. Although the disease has a poor prognosis and is generally fatal in the perinatal period, some patients may reach adulthood.
METHODS
We describe a case of Uhl's anomaly complicated with heart failure and decompensated cardiac cirrhosis in a 42-year-old man treated by combined heart-liver transplant.
RESULTS
The patient underwent heart transplant using the bicaval technique followed by subsequent liver transplant with the piggyback technique without venovenous bypass. Total ischemia time was 108 minutes for the heart and 360 and 25 minutes of cold and warm ischemia, respectively, for the liver. No intraoperative complications occurred. The patient was discharged without severe complications on postoperative day 22. Pathologic examination of the organs reported advanced cirrhosis of the liver and severe dilated myocardiopathy of right ventricle with absence of myocardium and a normal left ventricle. Twenty-seven months after the transplant the patient has been free from hospital admissions, with normal function of both transplanted organs.
CONCLUSIONS
We report the first successful combined heart-liver transplant for Uhl's anomaly indication in an adult patient. Despite of the insufficient knowledge of natural history of this exceptional disease, we successfully apply the management principles of other end-stage right heart disorders complicated with liver failure.
Topics: Adult; Cardiomyopathy, Dilated; Echocardiography; Female; Heart Defects, Congenital; Heart Ventricles; Humans; Liver Transplantation; Male; Pregnancy
PubMed: 34593248
DOI: 10.1016/j.transproceed.2021.08.036 -
Annals of Noninvasive Electrocardiology... Nov 2018The Epsilon wave was first identified in 1977. Four decades of progress help people to better understand its pathological electrogenesis and diagnostic value. Currently,... (Review)
Review
The Epsilon wave was first identified in 1977. Four decades of progress help people to better understand its pathological electrogenesis and diagnostic value. Currently, the Epsilon wave is on the list of the 2010 Task Force recommendations for the diagnosis of arrhythmogenic right ventricular dysplasia (ARVD). In this review, we provide the history of the first recording of the Epsilon wave in coronary artery disease and Uhl's anomaly, subsequently leading to the signal averaging technique to record late potentials. Based on our experience, we discuss some existing controversies. When we look back at the decades of progress of the Epsilon wave, we conclude that the Epsilon wave is only the tip of the iceberg of ECG abnormalities in ARVD.
Topics: Arrhythmogenic Right Ventricular Dysplasia; Cardiomyopathy, Dilated; Electrocardiography; Heart Defects, Congenital; Humans
PubMed: 29978588
DOI: 10.1111/anec.12571 -
JACC. Case Reports May 2024Uhl anomaly is characterized by the morphologic absence of right ventricular myocardium and is an exceedingly rare cause of nonischemic cardiomyopathy. We report the...
Uhl anomaly is characterized by the morphologic absence of right ventricular myocardium and is an exceedingly rare cause of nonischemic cardiomyopathy. We report the first case of a successful heart transplantation in a 41-year-old patient who presented in cardiogenic shock from Uhl anomaly causing decompensated right ventricular failure.
PubMed: 38601846
DOI: 10.1016/j.jaccas.2024.102322 -
AJP Reports Mar 2016Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old...
Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly.
PubMed: 26929879
DOI: 10.1055/s-0035-1566296 -
Long-term follow-up of a patient with Uhl anomaly after biologic and mechanical circulatory support.The Journal of Thoracic and... Jun 2015
Topics: Adolescent; Cardiac Pacing, Artificial; Cardiac Surgical Procedures; Cardiomyopathy, Dilated; Echocardiography, Three-Dimensional; Echocardiography, Transesophageal; Heart Defects, Congenital; Heart Failure; Heart Transplantation; Heart-Assist Devices; Hemodynamics; Humans; Male; Mitral Valve Insufficiency; Pacemaker, Artificial; Prosthesis Design; Prosthesis Implantation; Reoperation; Sternotomy; Time Factors; Treatment Outcome; Tricuspid Valve Insufficiency; Ventricular Dysfunction, Right; Waiting Lists
PubMed: 25749142
DOI: 10.1016/j.jtcvs.2015.01.058 -
JACC. Clinical Electrophysiology Aug 2021
Topics: Cardiomyopathy, Dilated; Heart Defects, Congenital; Humans; Tachycardia
PubMed: 34332870
DOI: 10.1016/j.jacep.2021.03.016 -
Revista Portuguesa de Cardiologia Dec 2018Uhl's disease, also known as Uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period,...
Uhl's 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 present paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect (ASD). Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19mmHg) and Qp:QS 0.88:1. At this point, the authors considered that a main diagnosis of ASD could not explain the clinical features and hemodynamic data. A primary disease of the right ventricle was the most likely hypothesis and cardiac magnetic resonance imaging was performed, which demonstrated an extremely thin-walled right ventricle, with almost complete absence of right ventricular free wall myocardium, compatible with Uhl's disease.
Topics: Adult; Cardiomegaly; Cardiomyopathy, Dilated; Cyanosis; Echocardiography; Heart Defects, Congenital; Humans; Hypertension, Pulmonary; Magnetic Resonance Imaging; Male
PubMed: 30001957
DOI: 10.1016/j.repc.2017.06.025 -
The Journal of Thoracic and... Nov 2001
Topics: Heart Defects, Congenital; Heart Ventricles; Humans; Infant; Male
PubMed: 11689812
DOI: 10.1067/mtc.2001.116319 -
The Journal of Thoracic and... Apr 1999This article presents a 10-year experience with one and a half ventricle repair for right ventricular hypoplasia or dysfunction.
OBJECTIVE
This article presents a 10-year experience with one and a half ventricle repair for right ventricular hypoplasia or dysfunction.
METHODS
From November 1986 to December 1996, 30 patients (mean age 6.7 +/- 8.5 years, range 4 months-40 years) with functionally abnormal right ventricles underwent a bidirectional Glenn shunt as part of the repair. Diagnoses included pulmonary atresia with intact ventricular septum (n = 15), Ebstein anomaly (n = 5), levotransposition of the great arteries (n = 3), pulmonary stenosis with right ventricular hypoplasia (n = 2), tetralogy of Fallot (n = 3), dextrotransposition of the great arteries (n = l), and Uhl anomaly (n = l). Concomitantly performed cardiac procedures included atrial septal defect closure (n = 27), fenestration of the atrial septum (n = 2), right ventricular cavity augmentation (n = 8), right ventricular outflow tract enlargement (n = 6), transannular patch (n = 13), modified Blalock-Taussig shunt closure (n = 16), tricuspid replacement (n = 3), tricuspid repair (n = 2), Rastelli procedure (n = 3), tricuspid commissurotomy (n = 2), and double switch (n = l).
RESULTS
There were 2 early deaths (6.6%) and 1 late death. Mean early postoperative superior vena caval pressure was 14. 12 +/- 3.55 mm Hg and mean right atrial pressure was 10.3 +/- 5.16 mm Hg. Early oxygen saturation in the operating room with an inspired oxygen fraction of 1 was 97.2 +/- 2.5; oxygen saturation was 92.3 +/- 4.8 on room air at discharge. Mean oxygen saturations were 93.6% +/- 3.6% at 1 year of follow-up (P =.10) and 93.5% +/- 4. 1% at 5 years (P =.12). Overall survival was 90% at 5 years, and 21 patients (77%) were in New York Heart Association class I, 5 (18%) were in class II, and 1 (2.7%) was in class III.
CONCLUSION
This procedure provides a valid alternative for correction of right ventricle hypoplasia or dysfunction. Early and intermediate follow-up results compare favorably with those of the Fontan procedure, but long-term follow-up is needed.
Topics: Cardiac Surgical Procedures; Child; Female; Follow-Up Studies; Fontan Procedure; Heart Defects, Congenital; Humans; Male; Time Factors; Treatment Outcome
PubMed: 10096960
DOI: 10.1016/S0022-5223(99)70285-0 -
Radiology Case Reports Feb 2024The tricuspid valve positioned between the right atrium and right ventricle is composed of 3 leaflets (anterior, posterior, and septal) anchored by a collagenous fibrous...
The tricuspid valve positioned between the right atrium and right ventricle is composed of 3 leaflets (anterior, posterior, and septal) anchored by a collagenous fibrous annulus, a saddle-shaped, oval structure, providing a firm yet dynamic structural support for the tricuspid valve. The annulus is considered to separate between the right atrium and right ventricle. Structural anomalies of the fetal tricuspid valve are rare and include Ebstein's anomaly, tricuspid atresia, partial absence, unguarded tricuspid orifice (absent leaflets) cleft, double orifice, bicuspid valve and Uhl anomaly (absence of the right ventricular myocardium with an apposing endocardium and epicardium). We present an unusual case in which a prominent peripheral circular structure was noted above the periphery of the fetal tricuspid valve at 31 weeks' gestation. Inflow across the tricuspid valve was unimpaired, with no tricuspid regurgitation. The right atrium appeared normal with a normal functioning foramen ovale, and the entire fetal cardiac anatomy and function were normal with no signs of congestive cardiac failure or fetal hydrops. The prominent non-obstructing circular structure in immediate proximity to the tricuspid valve leaflets was considered to represent a prominent tricuspid annulus. An appropriate for gestational age fetus was delivered at term and neonatal echocardiography was normal. This case emphasizes that normal variations in fetal anatomical structures should always be considered and specifically that unimpaired inflow across the tricuspid valve in diastole is key upon encountering an unusually prominent fetal tricuspid annulus, which may be noted at a considerable distance above the tricuspid leaflets within the right atrium.
PubMed: 38111557
DOI: 10.1016/j.radcr.2023.10.079