I’m Not Compacted!
Left Ventricular Dysfunction in a Young Man
Stephany Sanchez, MD (Associate); Jason H. Rogers, MD
University of California, Davis Medical Center, Sacramento, CA
LEARNING OBJECTIVES
INVESTIGATIVE STUDIES
HOSPITAL COURSE
 Isolated ventricular noncompaction (IVNC) is a rare
genetic cardiomyopathy
Medical management for heart failure  Diuresed 8 liters and
symptomatically improved
 Familial occurrence requires screening of first degree
relatives
Multiple runs of non-sustained ventricular tachycardia  AICD
placed
 Prognosis is poor given limited treatment options
Close clinical follow up arranged/cardiac transplant assessment
CASE INFORMATION
HISTORY OF PRESENT ILLNESS:
A 20 year-old Mexican man presented with dyspnea on
exertion for one month. He denied any chest pain,
orthopnea, PND, or lower extremity edema. He was
experiencing progressively worsening palpitations over that
last month. He had a 21 year-old brother who died of
sudden cardiac death last year with autopsy-proven
dilated cardiomyopathy.
PHYSICAL EXAM:
 T 37 BP 103/65 P 73 R18 SaO2 98%
Thin man in no acute distress
Regular rate, rhythm, 3/6 holosytolic murmer at apex
radiates to axilla. Laterally displaced PMI, no S3, JVD
Soft, abdomen with diffuse discomfort, no hepatomegaly
No lower extremity edema
Siblings in Mexico contacted and screening ECHOs arranged
Figure 1
Figure 2
Figure 3
Cardiovascular MRI. Enlarged left
ventricle with deep trabeculations
from noncompaction (arrow)
Left Ventricular angiogram.
Marked trabeculations (arrow)
with severe mitral regurgitation
Autopsy example. Compacted
epicardial layer and noncompacted
endocardial layer
PATHOGENESIS:
A
Normal embryonic development
C
(B) Trabeculae alternate with recesses that
communicate with the ventricular cavity
(C) During weeks 5-8 ventricular myocardium
is compacted and recesses turn into capillaries Figure 4
Normal embryonic development with compaction
DIAGNOSIS: Jenni Criteria (by ECHO)
Absence of coexisting cardiac problems
2 layer left ventricle wall structure:
thin/compacted outer layer and
thick/noncompacted internal layer
LV
Cardiac MRI  hyper-trabeculated LV with multiple
endocardial recesses and noncompacted myocardium
LA
Figure 5
Transthoracic Echo. Trabeculations of apical and
lateral walls of LV (Inset) Blood flow in recesses
Isolated ventricular noncompaction is a rare genetic
cardiomyopathy.
Male predominance (56-82%)
Familial and sporadic cases
Autosomal dominant and x-linked inheritance
Pathogenesis Embryonic arrest of compaction. (Fig. 4)
(A) Myocardium initially a meshwork of
loosely interwoven muscle fibers
ECHO  ejection fraction 10%, 4 chamber dilated
cardiomyopathy, 4+ mitral & tricuspid regurgitation,
multiple trabeculae in left ventricle (LV)
Cardiac Catheterization  normal coronaries, cardiac
output 3.8L/min, pulmonary capillary wedge pressure
18mmHg, elevated pulmonary artery pressures
B
 Arrest of normal endomyocardial
morphogenesis in embryonic development
PERTINENT LAB/IMAGING FINDINGS:
BNP 1726
AST 94 and ALT 100
Troponin 0.150.130.17
DISCUSSION
Apical and mid-ventricle segments of inferior
and lateral wall are affected
Blood flow from LV cavity into trabecular
recesses by Doppler
DiagnosisECHO gold standard (Jenni Criteria) (Fig. 5)
Clinical manifestations
Heart failure (systolic) from subendocardial hypoperfusion
Arterial thromboembolism from thrombi in trabecular
recesses
Arrhythmias
Treatment
Heart failure management, +/-ICD, +/- anticoagulation
Cardiac transplantation
Prognosis
Sudden cardiac death 13-18%, thromboembolic events 24%,
ventricular tachycardia 41%, heart failure >75%
Limited treatment options result in poor prognosis
REFERENCES
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ventricular noncompaction.” Cardiol Young. 2005 Aug;15(4):345-64. Howedemakers, Y, et al. “Cardiac b-myosin heavy chain defects in two families with noncompaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.” Eur Heart Journal 2007; 28: 2732-2737. Jenni R,
Oeschslin, EN, Van der Loo B. “Isolated ventricular non-compaction of the myocardium in adults.” Heart 2007; 93: 11-15. Moreira FC, Miglioransa MH, Mautone MP,
et al. “Noncompaction of the left ventricle: a new cardiomyopathy is presented to the clinician.” Sao Paulo Med J. 2006 Jan 5;124(1):31-5. Moric-Janiszewska, E, et al.
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