Sengers Syndrome Symptoms, Doctors, Treatments, Advances & More

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?

Distinguished in Sengers Syndrome

Dr. Lubna Choudhury

Cardiology

Distinguished in Sengers Syndrome

Dr. Lubna Choudhury

Cardiology

Northwestern Medical Faculty Foundation

635 N Dearborn St,

Chicago, IL

312-926-0404

Languages Spoken:

English

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Accepting New Patients

Offers Telehealth

Lubna Choudhury is a Cardiologist in Chicago, Illinois. Dr. Choudhury and is rated as a Distinguished provider by MediFind in the treatment of Sengers Syndrome. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Subvalvular Aortic Stenosis, Familial Hypertrophic Cardiomyopathy, and Cardiac Ablation. Dr. Choudhury is currently accepting new patients.

Distinguished in Sengers Syndrome

Dr. Andrew P. Wang

Cardiology | Interventional Cardiology

Distinguished in Sengers Syndrome

Dr. Andrew P. Wang

Cardiology | Interventional Cardiology

Duke Health Integrated Practice Inc

2351 Erwin Rd,

Durham, NC

919-684-8111

Languages Spoken:

English

See accepted insurances

Accepting New Patients

Offers Telehealth

Andrew Wang is a Cardiologist and an Interventional Cardiologist in Durham, North Carolina. Dr. Wang and 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 Aortic Valve Replacement. Dr. Wang is currently accepting new patients.

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Distinguished in Sengers Syndrome

Dr. Sharlene M. Day

Cardiology

Distinguished in Sengers Syndrome

Dr. Sharlene M. Day

Cardiology

University Of Penn-Medical Group

3400 Spruce St,

Philadelphia, PA

215-662-7355

Languages Spoken:

English

See accepted insurances

Sharlene Day is a Cardiologist in Philadelphia, Pennsylvania. Dr. Day and is rated as a Distinguished provider by MediFind in the treatment of Sengers Syndrome. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant.