Rare congenital anomaly of ventricular septum

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ORPHA:474347
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1Active trials8Specialists8Treatment centers

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Overview

A rare congenital anomaly of the ventricular septum is a birth defect affecting the wall (septum) that separates the two lower pumping chambers of the heart (the ventricles). This wall is important because it keeps oxygen-rich blood on the left side of the heart separate from oxygen-poor blood on the right side. When there is an unusual or rare structural problem with this wall — beyond the more common ventricular septal defect (VSD) — it can disrupt normal blood flow through the heart and body. These rare anomalies may include unusual shapes, positions, or combinations of defects that are not seen in typical heart conditions. Because the heart cannot pump blood as efficiently, the body may not get enough oxygen. This can cause symptoms like rapid breathing, poor feeding in babies, slow weight gain, and tiredness. In more serious cases, the heart has to work harder than normal, which can lead to heart failure over time. Treatment depends on the specific type and severity of the defect. Some children may need heart surgery or a catheter-based procedure to repair or close the abnormal opening. Others may be managed with medications to support heart function. With early diagnosis and appropriate care, many children with these conditions can live full and active lives, though some may need lifelong follow-up with a heart specialist.

Also known as:

Key symptoms:

Fast or labored breathingPoor feeding or difficulty eating in infantsSlow weight gain or failure to thriveUnusual tiredness or low energyBluish tint to the lips or skin (cyanosis)Heart murmur heard by a doctorSweating during feedingSwollen legs, ankles, or bellyFrequent respiratory infectionsRapid heartbeat

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

5 events
Feb 2026Bypass Clear Priming VSD Cardiopulmonary Bypass Circuit Reduce Bypass Associated Inflammation?

Seattle Children's Hospital — NA

TrialNOT YET RECRUITING
Feb 2026A Multimodal AI Prediction Model for Complications After Transcatheter Closure of Perimembranous VSD in Children

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

TrialNOT YET RECRUITING
Mar 2025An International Multicenter Study on Transcatheter Device Closure of Perimembranous Ventricular Septal Defects

Fondation Hôpital Saint-Joseph

TrialNOT YET RECRUITING
Jun 2024Clinical Evaluation Of Ventricular Septal Defect (VSD) In Children at Sohag Univesity Hospital

Sohag University

TrialRECRUITING
Jun 2018French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload

French Cardiology Society

TrialACTIVE NOT RECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Rare congenital anomaly of ventricular septum.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Clinical Evaluation Of Ventricular Septal Defect (VSD) In Children at Sohag Univesity Hospital
Actively Recruiting
· Sites: Sohag · Age: 016 yrs

Specialists

8 foundView all specialists →
OT
Onur Tasci
Specialist
PI on 1 active trial
MS
Mary Sokoloski
PORT CHARLOTTE, FL
Specialist
PI on 1 active trial
PX
Pan Xiangbin
Specialist
PI on 1 active trial
CC
Chun-An Chen
Specialist
PI on 1 active trial
JW
Jou-Kou Wang
Specialist
PI on 1 active trial
SS
Stephan Schubert
MANSFIELD, TX
Specialist
PI on 1 active trial
VN
Vishal Nigam
SAN DIEGO, CA
Specialist
PI on 1 active trial
AB
Adnan T Bhutta
INDIANAPOLIS, IN
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 Rare congenital anomaly of ventricular septum.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Rare congenital anomaly of ventricular septum

Disease timeline:

New recruiting trial: Clinical Evaluation Of Ventricular Septal Defect (VSD) In Children at Sohag Univesity Hospital

A new clinical trial is recruiting patients for Rare congenital anomaly of ventricular septum

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.What is the exact type of ventricular septal anomaly my child has, and how does it affect their heart?,Does my child need surgery or a procedure now, or can we watch and wait?,What symptoms should prompt me to call you or go to the emergency room?,Will my child need lifelong follow-up, and what does that look like as they grow up?,Should my child have genetic testing to look for an underlying syndrome?,Are there any activity restrictions my child needs to follow?,What is the long-term outlook for my child with this specific defect?

Common questions about Rare congenital anomaly of ventricular septum

What is Rare congenital anomaly of ventricular septum?

A rare congenital anomaly of the ventricular septum is a birth defect affecting the wall (septum) that separates the two lower pumping chambers of the heart (the ventricles). This wall is important because it keeps oxygen-rich blood on the left side of the heart separate from oxygen-poor blood on the right side. When there is an unusual or rare structural problem with this wall — beyond the more common ventricular septal defect (VSD) — it can disrupt normal blood flow through the heart and body. These rare anomalies may include unusual shapes, positions, or combinations of defects that are not

How is Rare congenital anomaly of ventricular septum inherited?

Rare congenital anomaly of ventricular septum follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Rare congenital anomaly of ventricular septum typically begin?

Typical onset of Rare congenital anomaly of ventricular septum is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Rare congenital anomaly of ventricular septum?

Yes — 1 recruiting clinical trial is currently listed for Rare congenital anomaly of ventricular septum on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Rare congenital anomaly of ventricular septum?

8 specialists and care centers treating Rare congenital anomaly of ventricular septum are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.