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Progressive familial heart block type II(PFHB2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Progressive familial heart block type 2
SNOMED CT: Progressive familial heart block, type II (698251009)
Monarch Initiative: MONDO:0007701
OMIM®: 140400


Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see 113900). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes (Brink and Torrington, 1977). [from OMIM]

Clinical features

From HPO
Sudden death
MedGen UID:
Concept ID:
Pathologic Function
Rapid and unexpected death.
Sudden cardiac death
MedGen UID:
Concept ID:
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrioventricular block
MedGen UID:
Concept ID:
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
MedGen UID:
Concept ID:
Sign or Symptom
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Sinus bradycardia
MedGen UID:
Concept ID:
Pathologic Function
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
Complete heart block with narrow QRS complexes
MedGen UID:
Concept ID:
Pathologic Function
A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.

Recent clinical studies


Fernandez P, Corfield VA, Brink PA
Cardiovasc J S Afr 2004 May-Jun;15(3):129-32. PMID: 15258623

Clinical prediction guides

Fernandez P, Moolman-Smook J, Brink P, Corfield V
Hum Genet 2005 Oct;118(1):133-7. Epub 2005 Oct 28 doi: 10.1007/s00439-005-0029-5. PMID: 16086176
Fernandez P, Corfield VA, Brink PA
Cardiovasc J S Afr 2004 May-Jun;15(3):129-32. PMID: 15258623

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