Contributions
Abstract: PB1765
Type: Publication Only
Session title: Sickle cell disease
Background
Sickle cell disease (SCD) is an inherited blood disorder caused by a mutation in the gene encoding the hemoglobin subunit β. The number of SCD cases is expected to increase in the next decades and new therapies led to an increase in patients’ life expectancy. Thus, it has become essential to define screening and prevention programs for the long-term complications. Among these, cardiovascular involvement has a significant impact on morbidity and mortality in SCD. Although cardiovascular complications have been well described in the adult population, few studies are currently available regarding the pediatric setting.
Aims
This study aims to investigate the impact of cardiac complications in a pediatric cohort and the role of clinical and laboratory markers as predictors factors to identify at-risk patients.
Methods
This is a retrospective observational monocentric study on a pediatric SCD population followed at the Bambino Gesù Childrens’ Hospital in the last 5 years (2015–2020). We have analyzed the data regarding 64 SCD patients (37 Males and 27 Females, median age 10) who undergone a routine transthoracic echocardiogram. Echocardiograpic evaluations were performed by a pediatric cardiologist, blinded to the clinical status and biological data. We collected personal information, medical history, and laboratory data referring to 2 years prior to echocardiogram. Statistical analysis was performed and data considered with statistical significance were those with p-value <0.05 and are therefore the ones presented in the results section.
Results
Globally, 46 (72%) patients had at least one cardiac abnormality. Left atrial dilatation (LAD) was present in 41 (65%) patients and left ventricular hypertrophy (LVH) was found in 29 (45%) patients. Only 5 patients had systolic disfunction, and no patient had indirect signs of pulmonary hypertension. No differences were found in the different age groups. Patients with LAD showed lower median Hb level (p=0,009), higher absolute reticulocyte count (p=0,04), higher conjugate bilirubin level (p=0,01) and alanine transaminase level (p=0,009). LVH was negatively correlated with median Hb value (p=0,006) and positively with reticulocyte count (p=0,03). Interestingly, we found that patients with cardiac anomalies had a higher transfusion needs and a lower frequency of pain crises. Among other complications, we found a correlation between left ventricular hypertrophy and splenectomy (p=0,03).
Conclusion
In our setting, cardiac involvement has a high prevalence in a pediatric cohort, involving the majority of patients. In the adult setting it’s known that elevated right ventricular pressure and left diastolic dysfunction are independent predictors of worst clinical course and early death. As suggested from other studies, left diastolic dysfunction, the prominent echocardiographic finding in adult, may take time to develop. Our findings suggest that cardiac complications are not only associated with specific laboratory findings, but also with a specific clinical phenotype, characterized by chronic significant hemolysis, severe anemia, high transfusion need and other complications related to chronic volume overload due to chronic anemia. The current guidelines do not recommend a screening echocardiogram in the asymptomatic pediatric population, we think further studies are needed on the impact of cardiac anomalies in the young age since their burden and clinical significance may be currently understated.
Keyword(s): Complications, Pediatric, Sickle cell disease
Abstract: PB1765
Type: Publication Only
Session title: Sickle cell disease
Background
Sickle cell disease (SCD) is an inherited blood disorder caused by a mutation in the gene encoding the hemoglobin subunit β. The number of SCD cases is expected to increase in the next decades and new therapies led to an increase in patients’ life expectancy. Thus, it has become essential to define screening and prevention programs for the long-term complications. Among these, cardiovascular involvement has a significant impact on morbidity and mortality in SCD. Although cardiovascular complications have been well described in the adult population, few studies are currently available regarding the pediatric setting.
Aims
This study aims to investigate the impact of cardiac complications in a pediatric cohort and the role of clinical and laboratory markers as predictors factors to identify at-risk patients.
Methods
This is a retrospective observational monocentric study on a pediatric SCD population followed at the Bambino Gesù Childrens’ Hospital in the last 5 years (2015–2020). We have analyzed the data regarding 64 SCD patients (37 Males and 27 Females, median age 10) who undergone a routine transthoracic echocardiogram. Echocardiograpic evaluations were performed by a pediatric cardiologist, blinded to the clinical status and biological data. We collected personal information, medical history, and laboratory data referring to 2 years prior to echocardiogram. Statistical analysis was performed and data considered with statistical significance were those with p-value <0.05 and are therefore the ones presented in the results section.
Results
Globally, 46 (72%) patients had at least one cardiac abnormality. Left atrial dilatation (LAD) was present in 41 (65%) patients and left ventricular hypertrophy (LVH) was found in 29 (45%) patients. Only 5 patients had systolic disfunction, and no patient had indirect signs of pulmonary hypertension. No differences were found in the different age groups. Patients with LAD showed lower median Hb level (p=0,009), higher absolute reticulocyte count (p=0,04), higher conjugate bilirubin level (p=0,01) and alanine transaminase level (p=0,009). LVH was negatively correlated with median Hb value (p=0,006) and positively with reticulocyte count (p=0,03). Interestingly, we found that patients with cardiac anomalies had a higher transfusion needs and a lower frequency of pain crises. Among other complications, we found a correlation between left ventricular hypertrophy and splenectomy (p=0,03).
Conclusion
In our setting, cardiac involvement has a high prevalence in a pediatric cohort, involving the majority of patients. In the adult setting it’s known that elevated right ventricular pressure and left diastolic dysfunction are independent predictors of worst clinical course and early death. As suggested from other studies, left diastolic dysfunction, the prominent echocardiographic finding in adult, may take time to develop. Our findings suggest that cardiac complications are not only associated with specific laboratory findings, but also with a specific clinical phenotype, characterized by chronic significant hemolysis, severe anemia, high transfusion need and other complications related to chronic volume overload due to chronic anemia. The current guidelines do not recommend a screening echocardiogram in the asymptomatic pediatric population, we think further studies are needed on the impact of cardiac anomalies in the young age since their burden and clinical significance may be currently understated.
Keyword(s): Complications, Pediatric, Sickle cell disease