Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?
Srijita Sen-Chowdhry1, William J McKenna
1Inherited Cardiovascular Disease Group, The Heart Hospital, University College London, UK.
Current Opinion in Cardiology
|April 3, 2008
Summary
Isolated left ventricular noncompaction (LVNC) has unclear causes and diagnosis. Research suggests LVNC may be a secondary consequence of genetic factors rather than a distinct disease.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Left ventricular noncompaction (LVNC) presents diagnostic challenges, with potential genetic links to various proteins.
- Manifestations range from severe outcomes in infancy to heart failure and arrhythmias in adults.
- Its presence in families with other cardiomyopathies questions its status as a distinct entity.
Purpose of the Study:
- To review and address unresolved questions regarding the etiology and diagnosis of isolated left ventricular noncompaction.
- To critically evaluate the current understanding of LVNC's origins and diagnostic criteria.
Main Methods:
- Review of existing literature on LVNC genetics, clinical presentations, and diagnostic imaging.
- Analysis of familial inheritance patterns and co-occurrence with other cardiac conditions.
Main Results:
- LVNC can be sporadic or familial, associated with mutations in mitochondrial, cytoskeletal, Z-line, and sarcomeric proteins.
- Severe phenotypes in children and adults carry a poor prognosis due to heart failure, arrhythmia, and thromboembolism.
- Current imaging criteria may identify LVNC in healthy individuals, and it is observed alongside hypertrophic or dilated cardiomyopathy.
Conclusions:
- Myocardial compaction may be a continuous trait, necessitating stricter diagnostic criteria for LVNC.
- LVNC might be a secondary consequence of genetic alterations, with maladaptive remodeling contributing to disease progression.
- Pathogenic mutations affecting myocyte function could be the primary determinant, with noncompaction as a secondary response.
Related Concept Videos
01:26Imbalances in Cardiac Output
The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send blood...
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send blood...
01:25Cardiomyopathy I: Introduction and Classification
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:30Cardiomyopathy II: Dilated Cardiomyopathy
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
01:29Heart Failure II: Pathophysiology
Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...