Cardiovascular Manifestations of Sickle Cell Disease

Nadjib Hammoudi; François Lionnet; Alban Redheuil; Gilles Montalescot


Eur Heart J. 2020;41(13):1365-1373. 

In This Article

Sickle Cell Disease Genotype and Cardiac Phenotype

Even if homozygous haemoglobin S is encountered in the majority of patients (70%), haemoglobin SC, resulting from a compound heterozygosity for two different mutations (S and C), is the second most common genotype representing about one quarter of the cases.[13] Compared to homozygous patients, haemoglobin SC disease is characterized by a lesser degree of haemolysis and higher levels of haemoglobin.[14] These patients are less likely to develop cardiac alteration and PH (Figure 1, Supplementary material online, Figure S1, and Supplementary material online, Videos S1–S4).[9,13,15] Moreover, the only mild heart remodelling and LV diastolic dysfunction (LVDD) in haemoglobin SC disease was recently related to overweight and/or arterial hypertension comorbidities and not to anaemia and haemolysis.[13] This review will focus on cardiac involvement related to homozygous SCD.

Figure 1.

Heart involvement characteristics in homozygous S (A) and haemoglobin SC disease (B) patients. Ao, aorta; LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.