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Keeshond — Conotruncal heart malformations (hereditary; OMIA-verified breed predisposition)

companion_breed_health_keeshond_omia451_dog

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--- license: permission_granted topic_id: companion_breed_health_keeshond_omia451_dog category: companion-breed-health title: "Keeshond — Conotruncal heart malformations (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/keeshond_omia451_451.txt date_parsed: 2026-08-02 tokens_estimated: 716 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_keeshond_omia451_dog/01_companion_breed_health_keeshond_omia451_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Keeshond — Conotruncal heart malformations (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000224/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Keeshond — Conotruncal heart malformations (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

  • Breed: Keeshond (Dog)
  • Disorder:
  • Mode of inheritance: Multifactorial
  • Summary: Conotruncal defects are a type of congenital heart defect characterized by abnormal formation and union of the endocardial cushions that normally divide the atrioventricular canal during development. The severity of the defect can vary from subclinical to life threatening. Clinical signs include exercise intolerance, cyanosis, and a systolic murmur. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT
  • Clin feat: Clinical signs include exercise intolerance with cyanosis and a systolic murmur. Radiographs may show reduced circulation in the pulmonary vessels along with right ventricular hypertrophy. Diagnosis can be obtained by echocardiogram or angiogram.
  • Defect: yes
  • Pathology: Opposing areas of mesenchymal tissue known as the atrioventricular endocardial cushions divide the atrioventricular canal during cardiac development. Abnormal septation is caused by abnormal formation and fusion of these cushions. Conotruncal defects include varying degrees of abnormality in the septation of the heart during development, which are divided into four grades of severity Patterson et al., 1974). Grade 1: The defects are subclinical, and include a persistent conus septum fusion line, an aneurysm in the ventricular septum, and absence of the papillary muscle of the conus. Otherwise, the heart is normal and no murmurs are present. Grade 2: Affected animals have a ventricular septal defect. Grade 3: Affected dogs have Tetralogy of Fallot, which is the combination of pulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy. Grade 4: Affected animals have a persistent truncus arteriosus, where the pulmonary artery and aorta arise from the truncus and there is no supraventricular crest. Occasionally, affected dogs also have anomalies of the aortic arch system, such as persistent ductus arteriosus, retroesophageal right subclavian artery, lateral origin of the aortic arch branches, and persistent left cranial vena cava (Patterson et al., 1974).
  • Prevalence: Conotruncal defects in the Keeshond have been studied extensively (Werner et al., 2005).
  • Control: The recommendation is that affected dogs with congenital heart defects should not be bred, even if they are only mildly affected. At this time, there are neither good statistical models to predict risks nor reliable methods to detect all carriers. Dogs will the subclinical form (Grade1) are not reliably detected by clinical evaluation. Nevertheless, a complete cardiovascular workup should be performed prior to breeding of any relatives of affected dogs. Test matings, with evaluation of all offspring, can be used to evaluate breeding animals.
  • Gen test: Not available.

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article
  • 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article
  • 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article
  • 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article
  • 2005. The keeshond defect in cardiac conotruncal development is oligogenic.. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article
  • 2009. Cardiac conotruncal malformations in a family of Beagle dogs.. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article
  • 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond.. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.

  • OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article
  • 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article
  • 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article
  • 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article
  • 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article
  • 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article
  • 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.

  • OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article
  • 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article
  • 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article
  • 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article
  • 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article
  • 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article
  • 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article
  • 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article
  • 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article
  • 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article
  • 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article
  • 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article
  • 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article
  • 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article
  • 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article
  • 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article
  • 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article
  • 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article
  • 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Sources

Keeshond — Conotruncal heart malformations (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 930841

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