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[Cardiac manifestations of sickle cell anemia]
1Service de Cardiologie hémodynamique et interventionnelle, CHU de Fort-de-France, Martinique.
Insights
Sickle cell disease, an inherited blood disorder, significantly increases the risk of cardiac disorders, especially in homozygous individuals. Early detection and management of these heart conditions are crucial for improving patient outcomes.
Area of Science:
- Hematology
- Cardiology
- Genetics
Background:
- Sickle cell disease is an inherited condition characterized by the presence of sickle-shaped red blood cells.
- Hemoglobin S and C are transmitted via Mendelian inheritance, leading to conditions like sickle-cell anemia and sickle-cell trait.
Purpose of the Study:
- To investigate the prevalence and nature of cardiac disorders in individuals with sickle cell disease.
- To highlight the association between sickle cell genotypes and cardiac complications.
Main Methods:
- Electrophoresis was used to determine hemoglobin types (SS and SC).
- Clinical features, cardiac examination findings (murmur, cardiomegaly, ECG anomalies), and echocardiography were assessed.
Main Results:
- Over 82% of homozygous sickle cell anemia patients exhibit cardiac disorders, compared to 2% of heterozygous subjects.
- Cardiac manifestations include "anemic heart" (elevated cardiac output, reduced peripheral resistance), cor pulmonale, and myocardiopathy.
- Fatal heart failure risk is elevated in neonates and children, potentially triggered by infections or rheumatic fever.
Conclusions:
- Sickle cell disease poses a significant risk for developing various cardiac disorders.
- Cardiac anomalies in sickle cell disease range from functional changes to severe conditions like heart failure and infarction.
- Close cardiac monitoring is essential for patients with sickle cell disease, particularly those with homozygous SS genotype.
Abstract:
HEMOGLOBINS S AND C: Drepanocytosis, the occurrence of sickle cells (drepanocytes) in the blood, is an inherited condition. Electrophoresis demonstrates hemoglobin SS in homozygous subjects who present the typical clinical features of severe hemolytic sickle-cell anemia. Heterozygous subjects have sickle-cell anemia trait, an asymptomatic condition associated with a 50% hemoglobin S and 50% hemoglobin C at electrophoresis. Hemoglobin S and C are transmitted by Mendelian inheritance. CARDIAC DISORDERS: Well-known, cardiac disorders occur in more than 82% of homozygous subjects while only 2% of heterozygous subjects are affected. Heart murmur, radiological cardiomegaly, or eletrocardiographic anomalies are often the only signs. There is a risk of fatal heart failure in children and neonates. Acute rheumatic fever or infectious endocarditis, particularly due to pneumococcal or Haemophilus influenzae infection, may trigger heart failure. CARDIAC ANOMALIES: Patients with sickle-cell anemia can develop an "anemic heart" expressed by an elevated cardiac output and systemic ejection volume at rest and a fall in arteriolar peripheral resistance. Patients who develop cor pulmonae have an elevated pulmonary pressure at exercise and experience venous occlusive events with a progressive reduction in the pulmonary vascular bed and development of a left-right shunt. Myocardiopathy leads to left ventricular dysfunction contrasting with the dilated right heart seen at echocardiography and rare cases of transmural infarction.