Sengers Syndrome Overview

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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.
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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?
Andrew Wang
Distinguished in Sengers Syndrome
Dr. Andrew Wang
Cardiology
Distinguished in Sengers Syndrome
Dr. Andrew Wang
Cardiology

Duke Cardiology Arringdon

5601 Arringdon Park Dr, 
Morrisville, NC 
919-997-3100
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Andrew Wang is a Cardiologist in Morrisville, North Carolina. Dr. Wang is rated as a Distinguished provider by MediFind in the treatment of Sengers Syndrome. His top areas of expertise are Familial Hypertrophic Cardiomyopathy, Sengers Syndrome, Subvalvular Aortic Stenosis, Heart Valve Repair, and Transcatheter Aortic Valve Replacement (TAVR). Dr. Wang is currently accepting new patients.

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
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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.

 
 
 
 
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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.

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