Hereditary progressive cardiac conduction…

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Hereditary progressive cardiac conduction defect

ORPHA:871Disease

Also called Hereditary Lenègre disease · Hereditary Lev disease · Hereditary Lev-Lenègre disease · Hereditary PCCD · Hereditary bundle branch defect · Hereditary progressive heart block

What it is

A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

Key facts

Age of onset
Adult
Inheritance
Autosomal dominant
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

SCN1BDisease-causing germline mutation(s) (loss of function)
SCN5ADisease-causing germline mutation(s) (loss of function)
TRPM4Disease-causing germline mutation(s) (gain of function)

1 modifying gene — variants that can change how the disease behaves, not cause it

NKX2-5

ICD-10 codes

I45.8filed under a broader ICD-10 category — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10005MESH C566873MONDO 0019490OMIM 113900OMIM 115080OMIM 140400OMIM 604559OMIM 612838UMLS C1879286

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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