Background--Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. Methods and Results--In 51 young patients with Marfan syndrome (12.0 ± 3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation. Pathogenetic fibrillin-1 mutations were classified between "dominant negative" and "haploinsufficient." The hemodynamic parameters of patients were compared with those of 80 sex, age, blood pressure, and heart-rate matched controls. Central pulse pressure was significantly higher (38.3 ± 12.3 versus 33.6 ± 7.8 mm Hg; P=0.009), and pulse pressure amplification was significantly reduced in Marfan than controls (17.9 ± 15.3% versus 32.3 ± 17.4%; P < 0.0001). Pulse wave velocity was not significantly different between Marfan and controls (4.98 ± 1.00 versus 4.75 ± 0.67 m/s). In the Marfan group, central pulse pressure and pulse pressure amplification were independently associated with aortic diameter at the sinuses of Valsalva (respectively, β=0.371, P=0.010; β=-0.271, P=0.026). No significant difference in hemodynamic parameters was found according to fibrillin-1 genotype. Patients who increased aortic Zscores at 1-year follow-up presented a higher central pulse pressure than the remaining (42.7 ± 14.2 versus 32.3 ± 5.9 mm Hg; P=0.004). Conclusions--Central pulse pressure and pulse pressure amplification were impaired in pediatric Marfan syndrome, and associated with aortic root diameters, whereas aortic pulse wave velocity was similar to that of a general pediatric population. An increased central pulse pressure was present among patients whose aortic dilatation worsened at 1-year follow-up.

Grillo, A., Salvi, P., Marelli, S., Gao, L., Salvi, L., Faini, A., et al. (2017). Impaired central pulsatile hemodynamics in children and adolescents with Marfan syndrome. JOURNAL OF THE AMERICAN HEART ASSOCIATION. CARDIOVASCULAR AND CEREBROVASCULAR DISEASE, 6(11) [10.1161/JAHA.117.006815].

Impaired central pulsatile hemodynamics in children and adolescents with Marfan syndrome

Grillo, A;Salvi, P
;
Gao, L;Faini, A;Parati, G.
2017

Abstract

Background--Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. Methods and Results--In 51 young patients with Marfan syndrome (12.0 ± 3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation. Pathogenetic fibrillin-1 mutations were classified between "dominant negative" and "haploinsufficient." The hemodynamic parameters of patients were compared with those of 80 sex, age, blood pressure, and heart-rate matched controls. Central pulse pressure was significantly higher (38.3 ± 12.3 versus 33.6 ± 7.8 mm Hg; P=0.009), and pulse pressure amplification was significantly reduced in Marfan than controls (17.9 ± 15.3% versus 32.3 ± 17.4%; P < 0.0001). Pulse wave velocity was not significantly different between Marfan and controls (4.98 ± 1.00 versus 4.75 ± 0.67 m/s). In the Marfan group, central pulse pressure and pulse pressure amplification were independently associated with aortic diameter at the sinuses of Valsalva (respectively, β=0.371, P=0.010; β=-0.271, P=0.026). No significant difference in hemodynamic parameters was found according to fibrillin-1 genotype. Patients who increased aortic Zscores at 1-year follow-up presented a higher central pulse pressure than the remaining (42.7 ± 14.2 versus 32.3 ± 5.9 mm Hg; P=0.004). Conclusions--Central pulse pressure and pulse pressure amplification were impaired in pediatric Marfan syndrome, and associated with aortic root diameters, whereas aortic pulse wave velocity was similar to that of a general pediatric population. An increased central pulse pressure was present among patients whose aortic dilatation worsened at 1-year follow-up.
Articolo in rivista - Articolo scientifico
Arterial stiffness; Blood pressure; Central blood pressure; Children; Fibrillin-1; Marfan syndrome;
Arterial stiffness; Blood pressure; Central blood pressure; Children; Fibrillin-1; Marfan syndrome; Cardiology and Cardiovascular Medicine
English
Grillo, A., Salvi, P., Marelli, S., Gao, L., Salvi, L., Faini, A., et al. (2017). Impaired central pulsatile hemodynamics in children and adolescents with Marfan syndrome. JOURNAL OF THE AMERICAN HEART ASSOCIATION. CARDIOVASCULAR AND CEREBROVASCULAR DISEASE, 6(11) [10.1161/JAHA.117.006815].
File in questo prodotto:
File Dimensione Formato  
10281-181465.pdf

accesso aperto

Tipologia di allegato: Publisher’s Version (Version of Record, VoR)
Dimensione 424.12 kB
Formato Adobe PDF
424.12 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/181465
Citazioni
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 6
Social impact