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noncompaction

Noncompaction is a form of cardiomyopathy characterized by prominent trabeculations and deep intertrabecular recesses in the ventricular myocardium, most commonly affecting the left ventricle. It is believed to result from arrest of normal endomyocardial maturation during early fetal development, leading to a two-layered macrostructure with a thin compacted outer layer and a thick noncompacted inner layer.

Clinical presentation varies widely. Some individuals are asymptomatic, while others experience heart failure symptoms such as

Diagnosis relies primarily on cardiac imaging. Echocardiography can reveal a bilayered myocardial wall with prominent trabeculations,

Genetics are heterogeneous; many cases are sporadic, but familial forms exist with autosomal dominant inheritance and

Management focuses on symptom relief and prevention of complications. Standard heart failure therapies apply when indicated;

dyspnea
and
fatigue,
chest
discomfort,
palpitations,
syncope,
or
thromboembolic
events.
Arrhythmias,
including
tachycardia
and
atrial
fibrillation,
can
occur
and
may
contribute
to
adverse
outcomes.
especially
in
the
apex
and
mid-lateral
wall,
and
deep
intertrabecular
recesses
that
communicate
with
the
ventricular
cavity.
A
noncompacted
to
compacted
myocardial
ratio
greater
than
2.0
in
systole
is
one
common
criterion
(Jenni
criteria).
Cardiac
MRI
provides
supplementary
criteria,
with
a
noncompacted
to
compacted
ratio
exceeding
2.3
in
diastole
(Petersen
criterion)
and
can
help
assess
the
extent
of
trabeculation
and
additional
involvement.
mutations
in
sarcomeric
and
related
genes.
TAZ
mutations
are
associated
with
Barth
syndrome.
Family
screening
and
genetic
counseling
are
often
recommended.
arrhythmia
management
and
consideration
of
anticoagulation
for
stroke
prevention
are
based
on
individual
risk.
Implantable
defibrillators
or
resynchronization
therapy
may
be
considered
in
selected
patients.
The
prognosis
is
variable,
spanning
from
stability
to
progression
with
heart
failure
or
malignant
arrhythmias.