Related Experiment Video
Updated: Jul 16, 2026
09:22
Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet
Published on: November 4, 2015
Left-ventricular non-compaction in a patient with monosomy 1p36
Bernard Thienpont1, Luc Mertens, Gunnar Buyse
1Center for Human Genetics, Catholic University of Leuven, Herestraat 49, Leuven, Belgium.
European Journal of Medical Genetics
|March 6, 2007
Summary
This study details a newborn with left ventricular non-compaction (LVNC), a rare heart defect, linked to a 1p36 deletion syndrome. This finding expands the known cardiac anomalies associated with this genetic disorder.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Monosomy 1p36 is a chromosomal disorder associated with various congenital anomalies.
- Cardiac abnormalities, including dilated cardiomyopathy and structural defects, are frequently observed in individuals with monosomy 1p36.
Observation:
- A newborn presented with features of left ventricular non-compaction (LVNC), dysmorphism, and epilepsy.
- Array comparative genomic hybridization (Array-CGH) identified a terminal deletion on the short arm of chromosome 1 (1p36).
Findings:
- This case represents the first documented instance of LVNC occurring in conjunction with the 1p36 deletion syndrome.
- The identified deletion spans approximately 4.6 to 5.9 Mb of the terminal 1p36 region.
Implications:
- The findings broaden the spectrum of cardiac anomalies associated with monosomy 1p36.
- This case highlights the importance of cardiac evaluation in infants diagnosed with 1p36 deletion syndrome, particularly for identifying rarer conditions like LVNC.
Related Concept Videos
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...
01:22Mitral Stenosis I: Introduction
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
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...
01:30Cardiomyopathy 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,...
01:27Mitral Valve Prolapse I: Introduction
IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...