Uhl anomaly

A congenital heart defect that affects the right ventricle. It is characterized by cardiomyopathy and fibrofatty replacement of the right ventricular MYOCARDIUM, resulting in ventricular arrhythmia and increased risk for sudden cardiac death. It is caused by mutations in the TRANSFORMING GROWTH FACTOR BETA3 (TGFB3) gene. OMIM: 107970

Also Known As:

Networked: 13 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Arrhythmogenic Right Ventricular Dysplasia (Arrhythmogenic Right Ventricular Cardiomyopathy)
2.	Heart Failure
3.	Ventricular Tachycardia
4.	Tetralogy of Fallot (Fallot Tetralogy)
5.	Pain (Aches)

Experts

1.	Arguis, Maria Jose: 1 article (11/2021)
2.	Blasi, Annabel: 1 article (11/2021)
3.	Castellá, Manuel: 1 article (11/2021)
4.	Colmenero, Jordi: 1 article (11/2021)
5.	Dos, Laura: 1 article (11/2021)
6.	Fondevila, Constantino: 1 article (11/2021)
7.	García-Álvarez, Ana: 1 article (11/2021)
8.	Landi, Filippo: 1 article (11/2021)
9.	Martinez, Daniel: 1 article (11/2021)
10.	Martinez, Julia: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Uhl anomaly:

1.	Radioisotopes (Radionuclides)IBA 05/01/1985 - "Two-dimensional echocardiographic, radionuclide angiographic, and contrast ventriculographic studies were typical of the right ventricular abnormalities in both Uhl's anomaly and arrhythmogenic right ventricular dysplasia. " 05/01/1983 - "Echocardiographic, radionuclide ventriculographic, and angiographic studies were typical of the right ventricular abnormalities in Uhl's anomaly; electrocardiographic and electrophysiologic findings were those of arrhythmogenic right ventricular dysplasia. "
2.	Proteins (Proteins, Gene)FDA Link 09/01/1987 - "A 17-year-old female with clinically diagnosed Uhl's anomaly died of intractable congestive heart failure, liver cirrhosis, and protein losing gastroenteropathy. "
3.	antineoplaston A10 (A 10)IBA 10/01/2006 - "The case of a 10 year old girl with six months of thoracic pain and decreased exercise tolerance with echocardiographic and resonance findings characteristic of Uhl's anomaly is presented."

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 07/01/2001 - "We report the case of an 8-month-old female infant with Uhl's anomaly, who underwent successful cardiac transplantation. " 12/01/2005 - "We present a case of a 51-year-old patient with Uhl's anomaly who underwent placement of a ventricular assist device as a bridge to cardiac transplantation, and discuss CT findings." 01/01/2009 - "Right ventricular cardiomyopathy: timing of heart transplantation in Uhl's anomaly and arrythmogenic right ventricular cardiomyopathy."
2.	Norwood Procedures 08/01/2003 - "Two patients had structurally normal hearts; the remaining 27 patients underwent concomitant repair of structural heart disease, including atrioventricular valve replacement or repair (n = 8), anatomy-specific repair of Ebstein's anomaly (n = 4), tetralogy of Fallot repair or revision (n = 4), atrial septal defect closure (n = 3), ventricular septal defect repair (n = 2), Mustard takedown with arterial switch (n = 2), initial Fontan (n = 2), right ventricle-to-pulmonary artery conduit revision (n = 2), Norwood procedure (n = 1), 1 ventricular repair for Uhl's anomaly (n = 1), Mustard baffle revision (n = 1), pulmonary valve replacement with aneurysm resection (n = 1), and aortic valve replacement with complex repair (n = 1). "
3.	Catheter Ablation 03/01/2019 - "Since most patients with Uhl's anomaly die in infancy or childhood, the adult cases of this disorder have been limitedly reported and there were no past report describing this anomaly with ventricular tachycardia (VT), in which catheter ablation was successfully performed. "
4.	Liver Transplantation 11/01/2021 - "We report the first successful combined heart-liver transplant for Uhl's anomaly indication in an adult patient. " 11/01/2021 - "Combined Heart and Liver Transplantation for Uhl's Anomaly: A Case Report." 11/01/2021 - "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. "
5.	Therapeutics 01/01/1988 - "ARVD and Uhl's anomaly, which is its most extreme form, may be familial and represent an important cause of sudden death among young people: Prophylactic antiarrhythmic therapy and sometimes surgical treatment are required in case of refractory VT."