Left isomerism

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ORPHA:566862Q20.6
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19Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Left isomerism, also called left atrial isomerism or polysplenia syndrome, is a rare condition where the body's internal organs do not develop in their normal left-right arrangement. In a typical body, the heart, lungs, stomach, liver, and spleen are each positioned on a specific side. In left isomerism, both sides of the body develop as if they were the left side. This means a person may have multiple small spleens (called polysplenia) instead of one, and the heart and other organs may be arranged in unusual ways. The heart is almost always affected. Common heart problems include holes between the heart's chambers, abnormal connections of the large blood vessels, and issues with the heart's electrical system that controls the heartbeat. The lungs may also look different, and the digestive organs like the intestines and liver can be positioned abnormally. Some people also have problems with bile ducts in the liver. Symptoms can range from mild to very serious depending on how the heart and other organs are affected. Some babies are diagnosed before birth through ultrasound, while others are found to have the condition shortly after birth due to heart or breathing problems. Treatment focuses on correcting heart defects through surgery and managing complications in other organs. With early diagnosis and careful medical care, many children with left isomerism can do well, though ongoing monitoring is essential throughout life.

Also known as:

Key symptoms:

Multiple small spleens instead of one normal spleenHeart defects such as holes between heart chambersAbnormal positioning of the heart within the chestIrregular or very slow heartbeat (heart rhythm problems)Bluish skin color due to low oxygen levels (cyanosis)Breathing difficulties, especially in newbornsLiver positioned in the middle of the abdomen instead of the right sideIntestines that are twisted or positioned abnormallyBile duct problems that can affect liver functionStomach positioned on the wrong side of the bodyFatigue and poor feeding in infantsSwelling due to heart failure in some cases

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Jul 2026Evaluate Pharmacokinetics, Safety, and Tolerability of AX251 LAI in Patients With Schizophrenia

Anxo Pharmaceutical Co., Ltd. — PHASE1

TrialNOT YET RECRUITING
Mar 2026Incentives and Long-Acting Injectable Adherence After Involuntary Hospitalization

Stanford University — NA

TrialENROLLING BY INVITATION
Feb 2026Innovative Administration of Long-Acting Injectables for HIV Treatment Enhancement at Home

University of California, San Francisco

TrialENROLLING BY INVITATION
Jan 2026Long-Acting Injectable HIV PrEP PROs

Anupama Raghuram MD

TrialNOT YET RECRUITING
Sep 2025A Study to Evaluate the Dose Levels, Safety, and Drug Levels of Single KarXT Intramuscular Injection in Participants With Schizophrenia

Bristol-Myers Squibb — PHASE1

TrialRECRUITING
Aug 2025Pharmacokinetics, Safety, Tolerability and Efficacy of a Subcutaneous Long-Acting Injection of Cariprazine (Cariprazine Depot) in Subjects Eligible for Treatment With Oral Cariprazine

Mapi Pharma Ltd. — PHASE1, PHASE2

TrialRECRUITING
Aug 2025Catch A Vibe - 24-00864

NYU Langone Health

TrialNOT YET RECRUITING
Jul 2025Study of S-892216 Long-acting Injectable (LAI) in Healthy Adult Participants

Shionogi — PHASE1

TrialRECRUITING
Jun 2025Single Ascending Dose Study to Assess the Safety, Tolerability and Pharmacokinetics of LAI MMV055 Alone and in Combination With MMV371 in Healthy Participants

Medicines for Malaria Venture — PHASE1

TrialRECRUITING
May 2025Randomized Withdrawal Study in Patients With Schizophrenia

Vanda Pharmaceuticals — PHASE3

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Left isomerism.

View clinical trials →

No actively recruiting trials found for Left isomerism at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Left isomerism community →

Specialists

19 foundView all specialists →
JS
Jesse F Simon
Specialist
1 Left isomerism publication
YF
Yu-Wei Fu
Specialist
1 Left isomerism publication
TC
Tai-Wai Chin
Specialist
1 Left isomerism publication
YH
Yao-Jen Hsu
Specialist
1 Left isomerism publication
CW
Chin-Yen Wu
Specialist
1 Left isomerism publication
UA
Usnish Adhikari
Specialist
1 Left isomerism publication
VG
Venkatesh Gurajala
Specialist
1 Left isomerism publication
PR
Palanisamy Dinesh Raja
Specialist
1 Left isomerism publication
AA
Anoop Ayyappan
HOUSTON, TX
Specialist
1 Left isomerism publication
DN
Deepti Narasimhaiah
Specialist
1 Left isomerism publication
AG
Arun Gopalakrishnan
Specialist
1 Left isomerism publication
TM
Trisha G Mukherjee
Specialist
1 Left isomerism publication
KT
Kyle E Thurmann
Specialist
1 Left isomerism publication
RR
Randy Richardson
Specialist
1 Left isomerism publication
IC
I Nok Cheang
Specialist
1 Left isomerism publication
SP
Stephanie M. Ware, MD, PhD
Specialist
PI on 1 active trial
KM
Kevin L Winthrop, MD, MPH
PORTLAND, OR
Specialist
PI on 2 active trials
JD
Jun Soo Kwon, Dr.
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Left isomerism.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Left isomerismForum →

No community posts yet. Be the first to share your experience with Left isomerism.

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Latest news about Left isomerism

Disease timeline:

New recruiting trial: Randomized Withdrawal Study in Patients With Schizophrenia

A new clinical trial is recruiting patients for Left isomerism

New recruiting trial: A Study to Evaluate the Dose Levels, Safety, and Drug Levels of Single KarXT Intramuscular Injection in Participants With Schizophrenia

A new clinical trial is recruiting patients for Left isomerism

New recruiting trial: Single Ascending Dose Study to Assess the Safety, Tolerability and Pharmacokinetics of LAI MMV055 Alone and in Combination With MMV371 in Healthy Participants

A new clinical trial is recruiting patients for Left isomerism

New recruiting trial: A Clinical Trial to Assess Pharmacokinetic Profiles, Safety and Tolerability of IVL3004 and IVL4002 in Healthy Male Subjects.

A new clinical trial is recruiting patients for Left isomerism

New recruiting trial: Study of S-892216 Long-acting Injectable (LAI) in Healthy Adult Participants

A new clinical trial is recruiting patients for Left isomerism

New recruiting trial: Predictors of Health Service Utilizations Among Key Population in Washington DC

A new clinical trial is recruiting patients for Left isomerism

New recruiting trial: Pharmacokinetics, Safety, Tolerability and Efficacy of a Subcutaneous Long-Acting Injection of Cariprazine (Cariprazine Depot) in Subjects Eligible for Treatment With Oral Cariprazine

A new clinical trial is recruiting patients for Left isomerism

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific heart defects does my child have, and what is the recommended surgical plan?,Does my child need preventive antibiotics for life, and which vaccines are most important?,Should we have genetic testing, and what does it mean for other family members or future pregnancies?,What signs of complications should prompt me to go to the emergency room immediately?,Are there any activity restrictions my child should follow?,How often will my child need cardiology and other specialist follow-up as they grow?,Are there clinical trials or specialized centers we should consider for my child's care?

Common questions about Left isomerism

What is Left isomerism?

Left isomerism, also called left atrial isomerism or polysplenia syndrome, is a rare condition where the body's internal organs do not develop in their normal left-right arrangement. In a typical body, the heart, lungs, stomach, liver, and spleen are each positioned on a specific side. In left isomerism, both sides of the body develop as if they were the left side. This means a person may have multiple small spleens (called polysplenia) instead of one, and the heart and other organs may be arranged in unusual ways. The heart is almost always affected. Common heart problems include holes betwe

How is Left isomerism inherited?

Left isomerism follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Left isomerism typically begin?

Typical onset of Left isomerism is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Left isomerism?

19 specialists and care centers treating Left isomerism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.