Sengers Syndrome Overview

Save information for later
Sign Up

Learn About Sengers Syndrome

View Main Condition: Cardiomyopathy

What is the definition of Sengers Syndrome?
Sengers syndrome is a rare autosomal recessive mitochondrial (cells that create energy) depletion disorder that causes a loss of function of the acylglycerol kinase (AGK) gene that is responsible for maintaining mitochondrial DNA, resulting in infants that are born with congenital cataracts, hypertrophic cardiomyopathy (thickening of heart muscle; HOCM), skeletal myopathy, and lactic acidosis.
What are the symptoms of Sengers Syndrome?
The hallmark symptom of Sengers syndrome is the appearance of congenital cataracts in an infant in the first few weeks of life, along with the development of progressive hypertrophic cardiomyopathy (thickening of heart muscle and heart failure), skeletal myopathy, and lactic acidosis. Additional symptoms may include generalized hypotonia (lack of muscle tone), exercise intolerance, and delayed motor development. Some children with Sengers syndrome may have mental retardation.
Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Sengers Syndrome?
If untreated, the progressive hypertrophic cardiomyopathy associated with Sengers syndrome can be fatal in the first few weeks of life. Some patients may be treated with heart transplantation. The cataracts associated with Sengers syndrome may require surgical removal. Children with Sengers syndrome may have normal mental development if the lactic acidosis is treated with oxygen and intravenous fluids.
Who are the top Sengers Syndrome Local Doctors?
Elite in Sengers Syndrome
Dr. Leslie B. Smoot
Pediatric Cardiology | Pediatrics
Elite in Sengers Syndrome
Dr. Leslie B. Smoot
Pediatric Cardiology | Pediatrics
300 Longwood Ave, 
Boston, MA 
617-355-2793
Languages Spoken:
English
See accepted insurances

Leslie Smoot is a Pediatric Cardiologist and a Pediatrics provider in Boston, Massachusetts. Dr. Smoot is rated as an Elite provider by MediFind in the treatment of Sengers Syndrome. Her top areas of expertise are Sengers Syndrome, Supravalvular Aortic Stenosis, Williams Syndrome, Heart Murmurs, and Heart Transplant.

Distinguished in Sengers Syndrome
Dr. Mark V. Sherrid
Cardiology
Distinguished in Sengers Syndrome
Dr. Mark V. Sherrid
Cardiology

New York University

355 W 52nd St, Fl 7l, 
New York, NY 
212-598-6697
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Mark Sherrid is a Cardiologist in New York, New York. Dr. Sherrid is rated as a Distinguished provider by MediFind in the treatment of Sengers Syndrome. His top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Subvalvular Aortic Stenosis, and Pacemaker Implantation.

 
 
 
 
Learn about our expert tiers
Learn More
Distinguished in Sengers Syndrome
Dr. Michael P. Ayers
Cardiology
Distinguished in Sengers Syndrome
Dr. Michael P. Ayers
Cardiology

University Of Virginia Physicians Group

500 Ray C Hunt Dr, Fl 2, 
Charlottesville, VA 
434-243-4520
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Michael Ayers is a Cardiologist in Charlottesville, Virginia. Dr. Ayers is rated as a Distinguished provider by MediFind in the treatment of Sengers Syndrome. His top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Sengers Syndrome, Pacemaker Implantation, and Cardiac Ablation. Dr. Ayers is currently accepting new patients.

View All Doctors
What are the latest Sengers Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials