Left Ventricular Non-compaction (LVNC) Cardiomyopathy


Article Author:
Davinder Singh


Article Editor:
Hiren Patel


Editors In Chief:
Michael Firstenberg
Lawrence Greiten


Managing Editors:
Avais Raja
Orawan Chaigasame
Carrie Smith
Abdul Waheed
Khalid Alsayouri
Frank Smeeks
Kristina Soman-Faulkner
Radia Jamil
Patrick Le
Sobhan Daneshfar
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Pritesh Sheth
Hassam Zulfiqar
Navid Mahabadi
Steve Bhimji
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Mark Pellegrini
James Hughes
Beata Beatty
Nazia Sadiq
Hajira Basit
Phillip Hynes
Tehmina Warsi


Updated:
6/4/2019 5:47:32 PM

Introduction

Left ventricular non-compaction (LVNC) is a very rare congenital cardiomyopathy. It is a disease of endomyocardial trabeculations that increase in number and prominence. This cardiomyopathy carries a high risk of malignant arrhythmias, thromboembolic phenomenon and left ventricular dysfunction. This disease also has other names like spongy myocardium, spongiform cardiomyopathy, hypertrabeculation, persisting myocardial sinusoids or zaspopathy. It can carries associations with complex congenital heart defects or skeletal myopathy. It represents the arrest of the normal maturation process of the myocardium. This disease can present throughout life with progressive left ventricular systolic dysfunction. 

This type of congenital cardiomyopathy has not been fully understood so far and remained unclassified by WHO. In 2006, the American Heart Association classified this entity as primary cardiomyopathy of genetic origin. MOGE(S) classification of cardiomyopathies has also described it as a distinct entity.[1]

Etiology

Although the precise cause is not presently known, it is thought to be due to a developmental disorder involving arrest of compaction of loose myocardial meshwork during fetal ontogenesis. It has been traced back to a single point mutation in the beta-myosin heavy chain gene. Various studies have linked left ventricular non-compaction as an autosomal dominant inherited disorder. It has possible links to mutations in several genes like ZASP,  dystrobrevin and tafazzin.  It has been known to be a part of various syndromes like the Barth, Noonan,  Roifman or Toriello Carey syndrome.[2][3]

Epidemiology

Isolated LVNC now presents with increasing frequency between 0.05 percent and 0.24 percent. Although the left ventricle is commonly affected, the involvement of both ventricles involvement occurs in 22 - 38 % of patients.

Histopathology

The ventricular wall of both ventricles in a normal heart consists of a compacted layer of myocardial fibers set in the matrix of supporting connective tissue. The LVNC consists of a meshwork of numerous prominent muscle band called trabeculations in left ventricular apex.

History and Physical

Patients with LVNC may lead a normal life as the normal left ventricle functions. Patients may present at any age from infancy to old age. The clinical manifestations may involve heart pump failure, arrhythmias, and thromboembolic phenomenon. The most common complaint at admission is pump failure.[4]

Evaluation

Diagnostic criteria for LVNC is a ratio X/Y < 0.5 where X is the distance, measured from the epicardial surface to the trough of the trabecular recess and Y is a distance measured from the epicardial surface to the peak of the trabeculation. This method, originally proposed by Chin et al., evaluates the size of trabeculations relative to the thickness of the compacted wall in different echocardiographic views and at different levels of the LV in end diastole. Jenni and co-worker also proposed a method that involves detection of the two myocardial layers, non-compacted and compacted, in short axis views of the LV in end systole. This method describes the ratio >2 between non compacted to compacted myocardium. The third definition proposed by Stollberger et al. determines the number of prominent trabeculations visible in the apical views of the LV in diastole. Regarding diagnosis, there is a debate going on with regards to features displaced by angiography, echocardiography, computed tomography, and magnetic resonance imaging. One can use any of imaging for confirmation.[1]

Echocardiography is routinely used initially as the non-invasive investigation of choice. Contrast echocardiography may potentially improve the sensitivity of diagnosing non-compaction due to improved contrast between myocardium and blood pool.

The diagnosis of spongy myocardium is challenging, as it has to be distinguished from muscle bundles.  In non-compaction left ventricle, there are prominent trabeculations. The adequacy of diagnosis of non-compaction depends very much on experience and knowledge of the investigator. Transthoracic echocardiography is also useful for detecting associated lesions like muscular ventricular septal defects or supra mitral ring along with non-compaction. 

Septal indentation in left ventricular hypertrabeculation is a finding mostly in children and its differentiation from left ventricular non-compaction is challenging.

Left ventricular angiography is rarely required for making the diagnosis of non-compaction. But angiography is required in associated complex congenital heart disease.

Other imaging modalities which are being increasingly used these days for diagnosis are computed tomography or cardiac magnetic resonance imaging. MRI provides very useful images. Magnetic resonance cine imaging, using so-called steady-state free precession sequence, is increasingly used because of its ability to image with clarity the compacted and non-compacted layers. This technique provides a better ratio of non compacted to compacted myocardium. It also gives superior visualization of left ventricular thrombi and myocardial fibrosis. Cardiac CT is of limited value in the evaluation of left ventricular function.

Treatment / Management

Management of symptomatic patients with congestive heart failure is with digoxin, diuretics, angiotensin-converting enzyme inhibitors, beta-blockers and afterload reducing agents. Some patients undergo cardiac transplantation. Cardiac rhythm abnormalities are managed with standard protocol, while some patients may benefit from an implanted cardiac defibrillator for severe ventricular tachyarrhythmias to prevent sudden death.[1]

Hypertrabeculation predisposed patients with reduced left the ventricular function are at risk for clot formation, which further contributes to cerebrovascular events, which certainly adds to comorbidity in patients with LVNC. It is recommended to put these patients on oral anticoagulation once the diagnosis of LV non-compaction is confirmed. 

Differential Diagnosis

After excluding dilated and hypertrophic cardiomyopathy, one should consider other diagnoses that can present with similar features. Thus, it is essential to distinguish left ventricular non-compaction from acquired changes seen in pulmonary atresia with an intact ventricular septum, layered mural thrombus in the left ventricle, mycotic invasion of the heart, intramyocardial hematoma, or Fabry's disease. 

MOGE(S) classification of cardiomyopathies has considered LVNC as a distinct entity; this will hopefully improve knowledge and awareness of the disease. 

Prognosis

The previously referenced clinical report predicts a dismal outcome of the disease. But increasing clinical experience has modified the prognosis to some extent by providing devices for life-threatening arrhythmias. Some asymptomatic patients now live up to the seventh decade.[4][5]

In one case series, the extra-cardiac disease also showed associations with mental and motor retardation. The most common complaint at admission was cardiac failure. The mortality rate was 21 percent and death mainly caused by cardiac failure and sepsis.

Complications

Left ventricular non-compaction can lead to cardiac failure, lethal ventricular arrhythmias, mural thrombi leading to cerebrovascular events and sepsis.

Pearls and Other Issues

Left ventricular non-compaction is an uncommon, congenital cardiomyopathy with a poor outcome. It predisposes the patient to cardiac failure, sepsis, and cerebrovascular events.

Enhancing Healthcare Team Outcomes

Ventricular non-compaction is a distinct genetic heterogeneous disease, that may affect both ventricles. The disorder may be isolated or be associated with other congenital cardiac malformation. It may present as dilated cardiomyopathy or less commonly with restrictive physiology. The prognosis for these patients is generally poor. LVNC patients can die suddenly to arrhythmia, thromboembolic events and left ventricular dysfunction. Some symptomatic patients may benefit from cardiac transplantation.  Because of the rarity of the disorder and its diverse presentation, management of the condition is best with a multidisciplinary team.


Interested in Participating?

We are looking for contributors to author, edit, and peer review our vast library of review articles and multiple choice questions. In as little as 2-3 hours you can make a significant contribution to your specialty. In return for a small amount of your time, you will receive free access to all content and you will be published as an author or editor in eBooks, apps, online CME/CE activities, and an online Learning Management System for students, teachers, and program directors that allows access to review materials in over 500 specialties.

Improve Content - Become an Author or Editor

This is an academic project designed to provide inexpensive peer-reviewed Apps, eBooks, and very soon an online CME/CE system to help students identify weaknesses and improve knowledge. We would like you to consider being an author or editor. Please click here to learn more. Thank you for you for your interest, the StatPearls Publishing Editorial Team.

Left Ventricular Non-compaction (LVNC) Cardiomyopathy - Questions

Take a quiz of the questions on this article.

Take Quiz
Left ventricular non-compaction cardiomyopathy (LVNC) can lead to all of the following complications except which one?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which is true regarding left ventricular non-compaction cardiomyopathy (LVNC)?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which is true regarding left ventricular non-compaction cardiomyopathy (LVNC)?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which is false regarding left ventricle non-compaction cardiomyopathy (LVNC)?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following is false regarding left ventricular non-compaction cardiomyopathy (LVNC)?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up

Left Ventricular Non-compaction (LVNC) Cardiomyopathy - References

References

Klenda J,Boppana LKT,Vindhyal MR, Heart Failure Secondary to Left Ventricular Non-compaction Cardiomyopathy in a 26-Year-Old Male. Cureus. 2018 Jul 20     [PubMed]
Richard P,Ader F,Roux M,Donal E,Eicher JC,Aoutil N,Huttin O,Selton-Suty C,Coisne D,Jondeau G,Damy T,Mansencal N,Casalta AC,Michel N,Haentjens J,Faivre L,Lavoute C,Nguyen K,Tregouët DA,Habib G,Charron P, Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity. Clinical genetics. 2018 Nov 24     [PubMed]
Hirono K,Hata Y,Nakazawa M,Momoi N,Tsuji T,Matsuoka T,Ayusawa M,Abe Y,Hayashi T,Tsujii N,Abe T,Sakaguchi H,Wang C,Takasaki A,Takarada S,Okabe M,Miyao N,Nakaoka H,Ibuki K,Saito K,Ozawa S,Nishida N,Bowles NE,Ichida F, Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy. Circulation journal : official journal of the Japanese Circulation Society. 2018 Sep 25     [PubMed]
Parekh JD,Iguidbashian J,Kukrety S,Guerins K,Millner PG,Andukuri V, A Rare Case of Isolated Left Ventricular Non-compaction in an Elderly Patient. Cureus. 2018 Jun 26     [PubMed]
Kumor M,Lipczyńska M,Biernacka EK,Klisiewicz A,Wójcik A,Konka M,Kożuch K,Szymański P,Hoffman P, Cardiac arrest and ventricular arrhythmia in adults with Ebstein anomaly and left ventricular non-compaction. Journal of cardiology. 2018 May     [PubMed]

Disclaimer

The intent of StatPearls is to provide practice questions and explanations to assist you in identifying and resolving knowledge deficits. These questions and explanations are not intended to be a source of the knowledge base of all of medicine, nor is it intended to be a board or certification review of Surgery-Cardiac. The authors or editors do not warrant the information is complete or accurate. The reader is encouraged to verify each answer and explanation in several references. All drug indications and dosages should be verified before administration.

StatPearls offers the most comprehensive database of free multiple-choice questions with explanations and short review chapters ever developed. This system helps physicians, medical students, dentists, nurses, pharmacists, and allied health professionals identify education deficits and learn new concepts. StatPearls is not a board or certification review system for Surgery-Cardiac, it is a learning system that you can use to help improve your knowledge base of medicine for life-long learning. StatPearls will help you identify your weaknesses so that when you are ready to study for a board or certification exam in Surgery-Cardiac, you will already be prepared.

Our content is updated continuously through a multi-step peer review process that will help you be prepared and review for a thorough knowledge of Surgery-Cardiac. When it is time for the Surgery-Cardiac board and certification exam, you will already be ready. Besides online study quizzes, we also publish our peer-reviewed content in eBooks and mobile Apps. We also offer inexpensive CME/CE, so our content can be used to attain education credits while you study Surgery-Cardiac.