Sengers Syndrome
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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?
Elite in Sengers Syndrome
Pediatric Cardiology
Elite in Sengers Syndrome
Pediatric Cardiology

Boston Children's Hospital

300 Longwood Ave, 
Boston, MA 
Languages Spoken:
English

Leslie Smoot is a Pediatric Cardiologist practicing medicine in Boston, Massachusetts. Dr. Smoot is rated as an Elite provider by MediFind in the treatment of Sengers Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Sengers Syndrome, Supravalvular Aortic Stenosis, Williams Syndrome, Heart Murmurs, and Heart Transplant.

Distinguished in Sengers Syndrome
Advanced Heart Failure and Transplant Cardiology | Cardiology
Distinguished in Sengers Syndrome
Advanced Heart Failure and Transplant Cardiology | Cardiology

Heart And Vascular Center At Durham Outpatient Center

4400 Emile St., 
Omaha, NE 
Experience:
17+ years
Languages Spoken:
English

Douglas Stoller is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 17 years. Dr. Stoller is rated as a Distinguished provider by MediFind in the treatment of Sengers Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Cardiomyopathy, Sengers Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy, Heart Transplant, and Pacemaker Implantation.

 
 
 
 
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Advanced in Sengers Syndrome
Advanced in Sengers Syndrome

Ballad Health CVA Heart Institute

2428 Knob Creek Road, Suite 201, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

Manar Jbara, MD, FACC, FASNC, SCCT, is board-certified in cardiology, internal medicine, echocardiography, nuclear cardiology and cardiac computerized tomography. He has published in multiple scientific journals, including Journal of American College of Cardiology, and participated in national clinical trials for the study of heart and vascular disease. He has received multiple accolades and nominations throughout his training and career. An ETSU Health clinician, Dr. Jbara also serves as a faculty member at ETSU’s Quillen College of Medicine. Dr. Jbara has a special interest in preventive cardiology and cardiac rehab, along with the diagnostic and therapeutic aspects of cardiology. He is passionate about teaching and mentoring fellows, residents and medical students. In his free time, he enjoys spending time in nature and following sports. Services • Arrythmias • Cardiomyopathy • Congenital heart defects • Coronary heart disease • Heart failure • Hypertension • Peripheral artery disease • Valvular heart disease. Dr. Jbara is rated as an Advanced provider by MediFind in the treatment of Sengers Syndrome. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Sengers Syndrome, Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Heart Attack, and Percutaneous Coronary Intervention (PCI). Dr. Jbara is board certified in American Board Of Internal Medicine.

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