Cardiac manifestations in sickle cell disease varies with patient genotype

Abstract

Cardiac involvement is well characterized in sickle cell anaemia (SCA) but cardiac features associated with Haemoglobin SC (HbSC) disease are mostly unknown. We compared 60 patients with HbSC disease (median age 31 years, 25 men) to 60 SCA patients and 60 controls matched for age and gender. Left ventricular ejection fraction (LVEF), left ventricle (LV) mass index (LVMi), cardiac index and peak tricuspid regurgitation velocity (TRV) were measured using echocardiography. LV filling pressures were assessed using the ratio of early diastolic transmitral velocity to tissue velocity (E/e' ratio). The LVMi was higher in both genotypes compared to controls. However, whereas LV hypertrophy was observed only in 3(5%) HbSC patients, this condition was diagnosed in 27(45%) SCA patients (P < 0·0001). While cardiac index and TRV were similar in HbSC compared to controls, SCA patients exhibited elevated cardiac output and TRV. LVEF was similar in the 3 groups. However, both genotypes had a higher E/e' ratio compared to controls. Cardiac involvement in SCA was related to anaemia and haemolysis, while LV diastolic dysfunction and TRV in HbSC disease patients were related to arterial hypertension and overweight comorbidities. In summary, cardiac involvement and its determinants are different in HbSC disease and SCA. Patient's genotype should be considered with regard to the echocardiographic indications and findings.

Sickle cell disease: at the crossroads of pulmonary hypertension and diastolic heart failure

“…While HFpEF is widely reported as the predominant form of HF in patients with SCD, HFrEF has also been reported, coinciding with high intravascular haemolysis and TRV >2.5 m/s, as seen in SCD-associated PH. These HFrEF reports likely describe a small, more severe subset of patients with SCD 37…”

Left ventricular global longitudinal strain and acute myocardial injury in patients with sickle cell disease admitted to the intensive care unit for vaso‐occlusive crisis

“…8 LV diastolic dysfunction seems to be mainly related to hypertension and overweight. 27 Finally, the repetition of ischaemic episodes has been raised. 7 Macroscopic and microscopic elements consistent with acute myocardial infarction without coronary abnormality have been found in several autopsy studies of patients with SCD.…”

“…Another suspected mechanism is microvascular dysfunction related to repeated vaso‐occlusive events, haematopoiesis‐associated focal microvascular occlusions, ischaemia and oxidative stress as an effect of chronic haemolysis 8 . LV diastolic dysfunction seems to be mainly related to hypertension and overweight 27 . Finally, the repetition of ischaemic episodes has been raised 7 .…”

Prevalência das Complicações Cardiovasculares nos Indivíduos com Anemia Falciforme e Outras Hemoglobinopatias: Uma Revisão Sistemática

“…13 A associação verificada por Whipple et al 14 entre e´M e e´T diminuídos e SLGVE e SLGVD também diminuídos, sugere que a prevalência aumentada de disfunção diastólica nas crianças com doença falciforme reduz a deformabilidade miocárdica, medida pelo SLG. Em pacientes com HbSC, enquanto Adjagba et al 7 observaram uma relação E/e´ similar entre esses pacientes e os indivíduos com HBSS, Guedeney et al 15 constataram maior frequência de disfunção diastólica ventricular esquerda nos pacientes com AF e hipertensão arterial sistêmica, o que corrobora a hipótese sugerida por Desai et al 8 de que o comprometimento da função diastólica nesse grupo de pacientes decorre da pós-carga aumentada. Esses dados sugerem que a disfunção diastólica é frequente, precoce e de provável etiologia multifatorial em indivíduos com AF.…”