Circulation, Vol 74, 21-35, Copyright © 1986 by American Heart Association
HL Graber, DV Unverferth, PB Baker, JM Ryan, N Baba and CF Wooley
This study describes six generations of a family with autosomal dominant
cardiac conduction system and myocardial disease with recognizable clinical
stages. A 20 year follow-up of nine family members, a medical questionnaire
of 196, electrocardiographic screening of 91, noninvasive testing of 20,
and catheterization with endomyocardial biopsy of six are the basis of this
report. The clinical stages are as follows: Stage I occurs in the second
and third decades of life and is characterized by an absence of symptoms,
normal heart size, sinus bradycardia, and premature atrial contractions.
Stage II is marked by first-degree atrioventricular block in the third and
fourth decades. Stage III occurs in the fourth and fifth decades and is
accompanied by chest pain, fatigue, lightheadedness, and advanced
atrioventricular block followed by the development of atrial fibrillation
or flutter. Stage IV, in the fifth and sixth decades of life, is
characterized by congestive heart failure and recurrent ventricular
arrhythmias. Light microscopy of right ventricular endomyocardial biopsy
specimens from patients in stage II revealed very mild fibrosis; electron
microscopy of the specimens demonstrated mild dilatation of tubules,
mitochondrial swelling, and minimal myofibrillar loss. Biopsy specimens
from patients with stage III disease were similar to those from patients
with stage II disease except for an increase of myofibrillar loss. The
stage IV specimens had diffuse fibrosis and more severe tubular dilatation,
mitochondrial cristolysis, and myofibrillar loss. At autopsy in the
proband, the atrial changes were more severe than the ventricular and were
especially marked in the sinoatrial and atrial myocardium. Early
recognition of the disease and use of pacemakers and antiarrhythmic agents
have proved beneficial for affected family members. Thorough family studies
of patients with conduction system disease and/or dilated cardiomyopathy
are necessary to better understand the hereditary basis and natural course
of this category of disease.
ARTICLES
Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected
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