Key result
Mulibrey nanism is linked to constriction-related diastolic dysfunction with an exaggerated inspiratory septal shift.
Why the study?
Mulibrey nanism (MUL) is a rare condition where congestive heart failure is a major prognostic determinant, prompting delineation of pericardial constriction and myocardial functional abnormalities in pediatric patients.
Case-Control (n=46)
Single-blind
No
Pediatric Mulibrey nanism is characterized by significant constriction-related diastolic dysfunction and mild biventricular systolic dysfunction, with myocardial abnormalities often persisting even after pericardiectomy.
Echocardiographic screening for constriction may be considered in pediatric Mulibrey nanism; leaves open whether myocardial dysfunction persists independently after pericardiectomy.
BACKGROUND: Mulibrey nanism (MUL) is a rare condition with profound growth delay. Congestive heart failure is a major determinant of prognosis. The aim was to delineate pericardial constriction and myocardial functional abnormalities in a pediatric MUL sample. METHODS: A total of 23 MUL patients and 23 individually sex- and age-matched healthy control subjects were prospectively assessed in a cross-sectional study with echocardiography. RESULTS: Clinical signs of heart failure were present in 7 MUL patients, with severe congestive heart failure in 2. Significant diastolic dysfunction, mainly related to constriction, was found in MUL patients without pericardiectomy (N = 18)-septal bounce, pronounced hepatic vein atrial reversal and right heart inflow-outflow variations, and decreased inferior vena cava collapse during respiration. The appearance of the pericardium was not different from that of control subjects. Longitudinal diastolic myocardial velocities were similar to those in control subjects, suggesting an absence of significant myocardial restriction. Right ventricular free wall longitudinal systolic strain and bilateral longitudinal myocardial systolic velocities were decreased in MUL patients, indicating mild biventricular systolic dysfunction. Myocardial motion abnormalities and persistent congestive heart failure were common (in 3 of 6) in MUL patients with a history of pericardiectomy. Cardiac dimensions were similar between MUL patients and control subjects when adjusting for body size, except for smaller biventricular volumes. CONCLUSIONS: MUL disease presents with significant constriction-related diastolic dysfunction and mild bilateral systolic dysfunction. Constriction-restriction assessments during follow-up could be of benefit in decision-making regarding pericardiectomy in MUL disease. Myocardial abnormalities were prevalent among MUL patients who had undergone pericardiectomy and are consistent with progression of myocardial disease in a significant proportion of patients.
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Sarkola et al. (2021) conducted a case-control in Mulibrey nanism (n=46). Mulibrey nanism vs. Healthy controls was evaluated on Absolute change in left ventricular eccentricity index in diastole during peak inspiration (septal shift) (p=<0.001). Mulibrey nanism in pediatric patients was associated with significant constriction-related diastolic dysfunction, including an exaggerated inspiratory septal shift (absolute change in LV eccentricity index -0.18 vs -0.06, p<0.001), as well as mild biventricular systolic dysfunction.
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