heart-hand syndrome, Slovenian type
Findings
No curated finding names heart-hand syndrome, Slovenian type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Definition from the Mondo Disease Ontology (MONDO:0012417), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal atrioventricular conductionHPOHP:0005150
- Very frequent (80% to 99% of cases)
- Abnormal electrophysiology of sinoatrial node originHPOHP:0011702
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- Dilated cardiomyopathyHPO · MondoHP:0001644
- Very frequent (80% to 99% of cases)
- Supraventricular arrhythmiaHPOHP:0005115
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LMNAHGNC:6636
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · G2P · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: heart-hand syndrome, Slovenian type
- Also called
- atriodigital dysplasia, Slovenian typeCardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome