Related Experiment Video

Updated: May 30, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease
07:27

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

[The "heart-hand" syndrome in a 8-year-old-boy with short stature]

Elzibieta Petriczko1, Anita Horodnicka-Józwa, Piotr Prowans

  • 1Klinika Pediatrii, Endokrynologii, Diabetologii, Chorób Metabolicznych i Kardiologii Wieku Rozwojowego PUM w Szczecinie. elzbietapetriczko@gmail.com

Wiadomosci Lekarskie (Warsaw, Poland : 1960)
|August 5, 2011
PubMed

Insights

This report details a new case of heart-hand syndrome, a rare genetic disorder affecting limb and heart development. The patient presented with limb abnormalities and cardiac defects, highlighting the syndrome's varied presentation.

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology
  • Orthopedics

Background:

  • Heart-hand syndrome encompasses a group of genetic disorders characterized by congenital anomalies of the upper limbs and heart.
  • Holt-Oram syndrome (HOS) is the most common type, occurring in about 1 in 100,000 live births.
  • Syndromes are classified into types based on specific limb and cardiac manifestations.

Observation:

  • A new family case of heart-hand syndrome was diagnosed through clinical examination, radiological imaging, and echocardiography.
  • The patient exhibited bilateral congenital absence of the radius and thumbs.
  • Additional findings included dextrocardia and a patent foramen ovale.

Findings:

  • The case expands the known spectrum of heart-hand syndrome presentations.
  • Confirms the association between radial ray defects and cardiac anomalies.
  • Highlights the diagnostic utility of a multimodal approach.

Implications:

  • Further research into the genetic underpinnings of heart-hand syndrome is warranted.
  • Early diagnosis and management are crucial for improving patient outcomes.
  • This case contributes to a better understanding of rare genetic disorders.

More Related Videos

Calculating Heart Rate Variability from ECG Data from Youth with Cerebral Palsy During Active Video Game Sessions08:12

Calculating Heart Rate Variability from ECG Data from Youth with Cerebral Palsy During Active Video Game Sessions

Published on: June 5, 2019

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy 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...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy 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,...
Cardiovascular System Abnormal Findings I: Inspection and Palpation01:29

Cardiovascular System Abnormal Findings I: Inspection and Palpation

In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection
Anatomy of the Heart01:27

Anatomy of the Heart

The human heart is made up of three layers of tissue that are surrounded by the pericardium, a membrane that protects and confines the heart. The outermost layer, closest to the pericardium, is the epicardium. The pericardial cavity separates the pericardium from the epicardium. Beneath the epicardium is the myocardium, the middle layer, and the endocardium, the innermost layer. There are four chambers of the heart: the right atrium, the right ventricle, the left atrium, and the left ventricle.
Heart Failure III: Clinical Manifestations01:26

Heart Failure III: Clinical Manifestations

Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...