Int J Cardiovasc Imaging (2015) 31:319321

DOI 10.1007/s10554-014-0561-2

CASE-IN-POINT

Can hypertrophic cardiomyopathy and non compaction left

ventricle coexist in a single patient?
Anita Sadeghpour Shadi Faghihi
Azin Alizadehasl

Received: 3 September 2014 / Accepted: 23 October 2014 / Published online: 30 October 2014
 Springer Science+Business Media Dordrecht 2014

Keywords Hypertrophic cardiomyopathy
Noncompaction left ventricle
Echocardiography

The echocardiographic finding of hypertrophic cardiomyopathy (HCM) is septal to posterior wall thickness ratio
of 1.3 or greater and septum is usually at least 15 mm in
thickness [3].
Mutations of the cardiac sarcomeric gene have been
identified as causing LVNC and are also the genetic basis
for the majority of HCM mutations [4].
Whether phenotypic overlap exists between LVNC and
HCM was investigated by some researchers [4][8].
We think our patient is another proof for probability of
their coexistence.

Introduction

Case presentation

Non compaction left ventricle (NCLV) is a kind of cardiomyopathy caused by embryonic arrest of compaction
resulting in persistent intramyocardial sinusoids [1].
Isolated NCLV characterized echocardiographically as
hypokinesia and myocardial thickening localized to the
apex, mid lateral and mid inferior walls; a ratio of non
compacted to compacted myocardial thickness at end systole C2 and color Doppler showing flow extending into the
trabecular recesses [2].

A 55 years old female presented with dyspnea FC IIIII.

Physical examination revealed BP = 140/90, HR = 84, H
and N: Normal JVP, Cardiac sounds: S1, S2, S4 with IIIII/
VI systolic murmur at apex, lungs: clear Abdomen: no
pathologic finding, ?1 peripheral edema.

Abstract Non compaction left ventricle (NCLV) and

hypertrophic cardiomyopathy (HCM) are both genetic
disorders which researches about their coexistence are
ongoing. Here is we present a 50 years old female with
dyspnea function class IIIII who presented echocardiographic criteria of both HCM and NCLV. According to
common genetic basis of NCLV and HCM, probability of
co-existence of them is logic.

A. Sadeghpour
A. Alizadehasl (&)

Rajaie Cardiovascular Medical and Research Center, Valiasr
Street, Tehran, Iran
e-mail: alizadeasl@gmail.com
A. Sadeghpour
e-mail: anita.sadeghpour@gmail.com
S. Faghihi
Qazvin University of Medical Science, Qazvin, Iran
e-mail: shadi.faghihi@yahoo.com

No notable abnormal finding in laboratory tests.

ECG showed atrial fibrillation with acceptable ventricular response, left axis deviation, left ventricular hypertrophy (LVH) and strain pattern in V4V6.
C X ray revealed mild cardiomegaly with normal lung
vascularity.
Transthoracic echocardiography showed: Normal LV
size with mild systolic dysfunction, EF = 4550 %, severe
LVH with asymmetric septal hypertrophy (Fig. 1), hypertrabeculated LV with multiple recesses and mild
hypokinesia involving base to apex of lateral wall, base and
mid of inferior wall and mid to apical portion of anterior
wall and non compacted to compacted ratio = 1.6/0.5 = 3
(Figs. 2, 3, 4).

123

320

Fig. 1 Parasternal long axis view which shows LVH and septum to
posterior wall ratio = 1.8 indicating HCM

Fig. 2 4 chamber (4C) view shows hypertrabeculated LV with

multiple deep recesses extending from base to apex of lateral wall

Grade II diastolic dysfunction

Normal right ventricular size and systolic function
Left atrial enlargement
Moderate mitral regurgitation
Mild aortic valve regurgitation, No LVOT (LV out flow
tract) obstruction
No pulmonary arterial hypertension (systolic pulmonary
arterial pressure (SPAP) = 30 mmHg)
Mild pericardial effusion

123

Int J Cardiovasc Imaging (2015) 31:319321

Fig. 3 Deep recesses are obvious in mid and apex of anterior wall
and base of inferior wall in this 2C view

Fig. 4 4C view with color flow Doppler showing flow extending to

trabecular recesses

Discussion
Association of LVNC and other kinds cardiomyopathy has
been reported by some authors [411]. Michels [4] mentioned that LVNC is a cardiomyopathy with wide clinical
spectrum which has a common molecular etiology with
different cardiomyopathic phenotypes. Monserrat et al. [5]
declared that E101 K mutation in ACTC can cause LVNC
and apical HCM. In an MRI study done by Whelan et al.

Int J Cardiovasc Imaging (2015) 31:319321

[6] on 43 HCM patients with pathologic sarcomeric protein

mutation (in 49 % of cases), they concluded that the
majority of HCM patients meet the diagnostic criteria for
LVNC. Yuan et al. [7] found overlapping phenotypes of
HCM and LVNC in one chinese family. The important
point in that study was that the areas of non compaction
were lateral, apical, anterior, anteroseptal and inferior wall
segments.
Our patient fulfilled the criteria of both NCLV and
HCM. The important point was that involved segments
were in anterior wall as well as base of lateral wall which
have not been usual in LVNC and this may guide us to
revise the criteria of NCLV as the involved areas may be
more than what we thought previously or it may suggest
the hypothesis of that the coexistence of these two kinds of
cardiomyopathy may modify their appearances.
Although genetic study was not performed for our
patient, the patient showed the phenotypes of both
disorders.
So in conclusion our patient was another evidence of
probability of coexisting phenotypic appearances of HCM
and LVNC.
Conflict of interest

None.

References
1. Oh JK, Seward JB, Tajik AJ (2007) The echo manual. Lippincott
Williams and Wilkins, Philadelphia
2. Otto CM (2013) Text book of clinical echocardiography. Elsevier, Philadelphia

321
3. Williams L, Woo A, Gruner C, Rakowski H (2012) Echocardiography in the evaluation and management of patients with
hypertrophic cardiomyopathy. In: Otto C (ed) The practice of
clinical echocardiography, 4th edn. Elsevier, Philadelphia,
pp 518519
4. Michels M Hypertrophic and noncompaction cardiomyopathy: a
case presentation. http://www.escardiol.org//live/016-1000Michels-wbz-Tue-S03.pdf
5. Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I et al
(2007) Mutation in the alpha-cardiac actin gene associated with
apical hypertrophic cardiomyopathy, left ventricular non-compaction and septal defects. Eur Heart J 28:19531961
6. Whelan J, Rowin E, Maron M (2013) Are left ventricular noncompaction and hypertrophic cardiomyopathy overlapping phenotypes: a CMR study. JACC. doi:10.1016/S0735-1097(13)
61307-8
7. Yuan L, Xie M, Cheng TO, Wang X, Zhu F et al (2014) Left
ventricular noncompaction associated with hypertrophic cardiomyopathy: echocardiographic diagnosis and genetic analysis of a
new pedigree in china. Int J Cardiol. doi:10.1016/j.ijcard.2014.
03.006
8. Pantazis AA, Kohli SK, Elliott PM (2006) Hypertrophic cardiomyopathy and left ventricular hypertrabeculation: evidence for an
overlapping phenotype. Heart. doi:10.1136/hrt.2005.070110
9. Biagini E, Ragni L, Ferlito M, Pasquale F, Lofiego C, Leone O,
Rocchi G, Perugini E, Zagnoni S, Branzi A, Picchio FM, Rapezzi
C (2006) Different types of cardiomyopathy associated with
isolated ventricular noncompaction. Am J Cardiol 98:821824
10. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles
Z, Sinagra G et al (2003) Mutations in Cypher/Zasp in patients
with dilated cardiomyopathy and left ventricular noncompaction.
J Am Coll Cardiol 42(11):20142027
11. Rapezzi C, Leone O, Ferlito M, Biagini E, Coccolo F, Arpesella
G (2006) Isolated left ventricular non-compaction with restrictive
cardiomyopathy. Eur Heart J 27(16):1927

123