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conotruncal heart malformations - Clinical Profile, Genes & Research | Kisho | Kisho

Features include sometimes findings: Hypertelorism. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Metabolism	1	Abnormality of metabolism/homeostasis

GeneReviews

Clinical Guidance

This section summarizes findings based on publications of individuals with 22q11.2 deletion syndrome (22q11.2DS). Heart. A recent record review of 1,421 individuals with 22q11.2DS revealed congenital heart defects (CHD) in 64% of individuals . The most frequent anomalies are conotruncal defects of the outflow tract . Ventricular septal defects were the most common abnormality identified on echocardiography. CHD are the major cause of mortality (~87% of all deaths) in children with 22q11.2DS . In addition, adults with 22q11.2DS die prematurely, with sudden death and heart failure being the most common causes of death, even in individuals without CHD . A subset of affected individuals are found to have dilated aortic root . The natural history of aortic root dilatation is unknown.

Table 2.

Source: GeneReviews — "22q11.2 Deletion Syndrome"

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GATA6

GATA6 encodes GATA binding protein 6 (595 aa). Transcriptional activator. Regulates SEMA3C and PLXNA2. Involved in gene regulation specifically in the gastric epithelium. May regulate genes that protect epithelial cells from bacterial infection. Highest expression in Ovary (121.3 TPM) and Adrenal Gland (65.6 TPM).

Conotruncal heart malformations is associated with mutations in the GATA6 gene on chromosome 18.

The GATA6 protein participates in GATA6-AS1 lncRNA, Expression of GATA6 in cardiogenesis, and Expression of GATA6 in definitive endoderm pathways.

GATA6 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 13.1.

NKX2-5

NKX2-5 encodes NK2 homeobox 5 (324 aa). Transcription factor required for the development of the heart and the spleen. During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4. Highest expression in Heart Atrial Appendage (113.7 TPM) and Heart Left Ventricle (108.3 TPM).

Conotruncal heart malformations is associated with mutations in the NKX2-5 gene on chromosome 5.

The NKX2-5 protein participates in Expression of NKX2-5 in cardiogenesis, GATA4, SMAD1:SMAD4, MEF2C, TBX20, and NKX2-5 bind the NKX2-5 gene, and GATA4 and NKX2-5 bind the HAND1 gene pathways.

NKX2-5 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 4.0.

NKX2-6

NKX2-6 encodes NK2 homeobox 6 (301 aa). Acts as a transcriptional activator. In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development Highest expression in Minor Salivary Gland (1.4 TPM) and Heart Atrial Appendage (0.7 TPM).

Conotruncal heart malformations is associated with mutations in the NKX2-6 gene on chromosome 8.

The NKX2-6 protein participates in Expression of NKX2-5 in cardiogenesis, NEUROG3-dependent synthesis of NKX2-2, and GATA4, SMAD1:SMAD4, MEF2C, TBX20, and NKX2-5 bind the NKX2-5 gene pathways.

NKX2-6 is classified as a druggable target with score 0.0.

TBX1

TBX1 function has not been fully characterized.

Conotruncal heart malformations is associated with mutations in the TBX1 gene on chromosome 22.

GeneReviews

Penetrance

Penetrance is complete in the majority of individuals with 22q11.2DS; variability is marked. Nested deletions are often familial and have reduced penetrance and/or a milder expression.

Source: GeneReviews — "22q11.2 Deletion Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for conotruncal heart malformations. The disease remains an area of unmet medical need.

Gene therapy approaches for conotruncal heart malformations have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis Clinical practice guidelines for the evaluation and treatment of individuals with 22q11.2 deletion syndrome (22q11.2DS) have been published. See (full text) and . To establish the extent of disease and needs of an individual diagnosed with 22q11.2DS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with 22q11.2 Deletion Syndrome

System/Concern	Evaluation	Comment
Cardiology	Eval by cardiologist incl chest radiograph, EKG, echocardiogram	Chest MRI may be required if a vascular ring is suspected. ENT
Gastroenterology	Assessment for feeding problems (e.g., gastroesophageal reflux, difficulty w/sucking/swallowing, advancing feeds, addition of textured foods, vomiting) constipation	Assessment for anatomic differences as needed
Immunology	CBC w/differential	A absolute lymphocyte count necessitates eval of T- B-cell subsets referral to immunologist.; Immunologic eval; may incl flow cytometry, immunoglobulins, T-cell function
Hematology	Eval by hematologist in those w/history of bruising/bleeding	Consider assessment of platelet volume function prior to surgical procedures. Endocrine
Ophthalmology

Source: GeneReviews — "22q11.2 Deletion Syndrome"

Clinical Trials

View trials for conotruncal heart malformations

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with 22q11.2 Deletion Syndrome

System/Concern	Evaluation	Frequency
ENT	Eval for nasal speech quality	After language emergence to screen for VPI
Immunology	Antibody studies to assess for seroconversion	Between ages 9 12 mos; consideration of repeat immunologic eval prior to any live virus vaccine CBC w/differential
Endocrine	Serum ionized calcium	Every 3-6 mos in infancy, every 5 yrs through childhood, then every 1-2 yrs; Preoperatively postoperatively; Regularly during pregnancy TSH free T4
Ophthalmology	Ophthalmologic eval	Between ages 1 3 yrs or as needed based on symptoms
Audiology	Audiology eval	In infants, preschool age, school age children
Development	Developmental assessments	Annually Musculoskeletal
Dental	Dental exam	Every 6 mos VPI = velopharyngeal incompetence

Source: GeneReviews — "22q11.2 Deletion Syndrome"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for conotruncal heart malformations.

262 publications have been identified in PubMed for conotruncal heart malformations. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	83	32%
Laboratory research	48	18%
Research summaries	39	15%
Disease patterns and progression	31	12%
Clinical study results	29	11%
Testing and diagnosis research	28	11%
New treatment approaches	4	2%

Recent Publications

Osawa Y (2026). [PMID: 41251886](https://pubmed.ncbi.nlm.nih.gov/41251886/). *Clin J Gastroenterol*. [Case Report / Case Series]
Waller DK (2026). [PMID: 42089396](https://pubmed.ncbi.nlm.nih.gov/42089396/). *Birth Defects Res*. [Basic Science / Preclinical]
Hoogerbeets SF (2026). [PMID: 39762516](https://pubmed.ncbi.nlm.nih.gov/39762516/). *Pediatr Cardiol*. [Epidemiology / Natural History]
Patibandla S (2026). [PMID: 31536232](https://pubmed.ncbi.nlm.nih.gov/31536232/). *Unknown Journal*. [Case Report / Case Series]
Floriani F (2026). [PMID: 41887919](https://pubmed.ncbi.nlm.nih.gov/41887919/). *Proteins*. [Review / Meta-Analysis]
Salve GG (2026). [PMID: 41971850](https://pubmed.ncbi.nlm.nih.gov/41971850/). *JTCVS Tech*. [Basic Science / Preclinical]
Lee JH (2026). [PMID: 41168126](https://pubmed.ncbi.nlm.nih.gov/41168126/). *Korean Circ J*. [Review / Meta-Analysis]
Shahjehan RD (2026). [PMID: 32644395](https://pubmed.ncbi.nlm.nih.gov/32644395/). *Unknown Journal*. [Case Report / Case Series]
Yakovlev S (2026). [PMID: 41725857](https://pubmed.ncbi.nlm.nih.gov/41725857/). *Methodist Debakey Cardiovasc J*. [Case Report / Case Series]
Ramirez Alcantara J (2026). [PMID: 30422497](https://pubmed.ncbi.nlm.nih.gov/30422497/). *Unknown Journal*. [Diagnostic / Biomarker]

Kisho

conotruncal heart malformations

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

GATA6

NKX2-5

NKX2-6

TBX1

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

DHCR7

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

conotruncal heart malformations

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

GATA6

NKX2-5

NKX2-6

TBX1

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

DHCR7

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team