Details of Disease

General Information of Disease (ID: DISNEF3B)

• Disease Name: Progressive familial heart block
• Synonyms: familial progressive cardiac conduction defect; hereditary bundle branch defect; familial Lev disease; familial progressive heart block; familial PCCD; familial Lev-Lengre disease; familial Lenegre disease; PFHB; familial Lengre disease; familial Lev-Lenegre disease
• Definition: A hereditary cardiac conduction disorder 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.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DISLKUNL: Heart arrhythmia
  DISNEF3B: Progressive familial heart block

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN5A	TTZOVE0	Supportive	Autosomal dominant	[1]
TRPM4	TTJ2HKA	Supportive	Autosomal dominant	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN1B	OTGD78J3	Supportive	Autosomal dominant	[3]
SCN5A	OTGYZWR6	Supportive	Autosomal dominant	[1]
TRPM4	OT354X8E	Supportive	Autosomal dominant	[2]

References

• [1] Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lengre disease. J Am Coll Cardiol. 2003 Feb 19;41(4):643-52. doi: 10.1016/s0735-1097(02)02864-4.
• [2] Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. J Clin Invest. 2009 Sep;119(9):2737-44. doi: 10.1172/JCI38292. Epub 2009 Aug 24.
• [3] Sodium channel 1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891.