Heart-hand Syndrome, Slovenian Type

Description

Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Heart-hand Syndrome, Slovenian Type

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy
  • Syndactyly
  • Clinodactyly
  • Arrhythmia
  • Dilated cardiomyopathy
  • Limb muscle weakness

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Heart-hand Syndrome, Slovenian Type Is also known as atriodigital dysplasia, slovenian type, cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome.

Researches and researchers

Doctors, researchs, and experts related to Heart-hand Syndrome, Slovenian Type extracted from public data.

Heart-hand Syndrome, Slovenian Type Experts map



Current Researchs and researchers

  • — Institution: Information not provided - DE



    • Institution/s:
      — Institution: Information not provided - DE
    • Research area/topic::

      ERA-CVD - VARIATION: New RNA therapies for the treatment of cardiomyopathies caused by LMNA mutations



Mendelian

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Heart-hand Syndrome, Slovenian Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc (United States).

YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
100 %
CMT Advanced Evaluation - Recessive.

By Athena Diagnostics Inc (United States).

PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
100 %
LMNA (CMT2B1) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LMNA
Specificity
100 %
Genes
100 %
Lamin A/C (LMNA) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LMNA
Specificity
100 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
100 %

We have 442 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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