Vascular and connective tissue features in 5 Italian patients with homocystinuria

Lucia Evangelisti, Laura Lucarini, Monica Attanasio, Maria Cristina Porciani, Eloisa Romano, Domenico Prisco, Gian Franco Gensini, Rosanna Abbate, Guglielmina Pepe

Research output: Contribution to journalArticle

Abstract

Homocystinuria is a metabolic disorder associated with defects in genes encoding for methionine metabolism enzymes. Vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations are the major clinical features. We investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cystationine beta-synthase (CBS) gene and searched for genotype/phenotype correlations. We detected mild cardiovascular and skin connective tissue stigmas in these patients, never reported in homocystinuric patients before. We found 1 novel and 7 known mutations. Our patients carried no other mutation associated with venous thrombosis. Our data stress the importance of extending the clinical investigation for connective tissue manifestations in homocystinuric patients to all the organs/systems involved in Marfan syndrome, also suggesting long term follow-ups for cardiovascular manifestations.

Original languageEnglish
Pages (from-to)251-254
Number of pages4
JournalInternational Journal of Cardiology
Volume134
Issue number2
DOIs
Publication statusPublished - May 15 2009

Fingerprint

Homocystinuria
Connective Tissue
Blood Vessels
Venous Thrombosis
Mutation
Ectopia Lentis
Marfan Syndrome
Genetic Association Studies
Methionine
Genes
Skin
Enzymes

Keywords

  • CBS gene
  • Connective tissue manifestations
  • Homocystinuria
  • Vascular clinical manifestations

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Evangelisti, L., Lucarini, L., Attanasio, M., Porciani, M. C., Romano, E., Prisco, D., ... Pepe, G. (2009). Vascular and connective tissue features in 5 Italian patients with homocystinuria. International Journal of Cardiology, 134(2), 251-254. https://doi.org/10.1016/j.ijcard.2007.12.029

Vascular and connective tissue features in 5 Italian patients with homocystinuria. / Evangelisti, Lucia; Lucarini, Laura; Attanasio, Monica; Porciani, Maria Cristina; Romano, Eloisa; Prisco, Domenico; Gensini, Gian Franco; Abbate, Rosanna; Pepe, Guglielmina.

In: International Journal of Cardiology, Vol. 134, No. 2, 15.05.2009, p. 251-254.

Research output: Contribution to journalArticle

Evangelisti, L, Lucarini, L, Attanasio, M, Porciani, MC, Romano, E, Prisco, D, Gensini, GF, Abbate, R & Pepe, G 2009, 'Vascular and connective tissue features in 5 Italian patients with homocystinuria', International Journal of Cardiology, vol. 134, no. 2, pp. 251-254. https://doi.org/10.1016/j.ijcard.2007.12.029
Evangelisti L, Lucarini L, Attanasio M, Porciani MC, Romano E, Prisco D et al. Vascular and connective tissue features in 5 Italian patients with homocystinuria. International Journal of Cardiology. 2009 May 15;134(2):251-254. https://doi.org/10.1016/j.ijcard.2007.12.029
Evangelisti, Lucia ; Lucarini, Laura ; Attanasio, Monica ; Porciani, Maria Cristina ; Romano, Eloisa ; Prisco, Domenico ; Gensini, Gian Franco ; Abbate, Rosanna ; Pepe, Guglielmina. / Vascular and connective tissue features in 5 Italian patients with homocystinuria. In: International Journal of Cardiology. 2009 ; Vol. 134, No. 2. pp. 251-254.
@article{43ddae0efa02411d865be5518e24e950,
title = "Vascular and connective tissue features in 5 Italian patients with homocystinuria",
abstract = "Homocystinuria is a metabolic disorder associated with defects in genes encoding for methionine metabolism enzymes. Vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations are the major clinical features. We investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cystationine beta-synthase (CBS) gene and searched for genotype/phenotype correlations. We detected mild cardiovascular and skin connective tissue stigmas in these patients, never reported in homocystinuric patients before. We found 1 novel and 7 known mutations. Our patients carried no other mutation associated with venous thrombosis. Our data stress the importance of extending the clinical investigation for connective tissue manifestations in homocystinuric patients to all the organs/systems involved in Marfan syndrome, also suggesting long term follow-ups for cardiovascular manifestations.",
keywords = "CBS gene, Connective tissue manifestations, Homocystinuria, Vascular clinical manifestations",
author = "Lucia Evangelisti and Laura Lucarini and Monica Attanasio and Porciani, {Maria Cristina} and Eloisa Romano and Domenico Prisco and Gensini, {Gian Franco} and Rosanna Abbate and Guglielmina Pepe",
year = "2009",
month = "5",
day = "15",
doi = "10.1016/j.ijcard.2007.12.029",
language = "English",
volume = "134",
pages = "251--254",
journal = "International Journal of Cardiology",
issn = "0167-5273",
publisher = "Elsevier Ireland Ltd",
number = "2",

}

TY - JOUR

T1 - Vascular and connective tissue features in 5 Italian patients with homocystinuria

AU - Evangelisti, Lucia

AU - Lucarini, Laura

AU - Attanasio, Monica

AU - Porciani, Maria Cristina

AU - Romano, Eloisa

AU - Prisco, Domenico

AU - Gensini, Gian Franco

AU - Abbate, Rosanna

AU - Pepe, Guglielmina

PY - 2009/5/15

Y1 - 2009/5/15

N2 - Homocystinuria is a metabolic disorder associated with defects in genes encoding for methionine metabolism enzymes. Vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations are the major clinical features. We investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cystationine beta-synthase (CBS) gene and searched for genotype/phenotype correlations. We detected mild cardiovascular and skin connective tissue stigmas in these patients, never reported in homocystinuric patients before. We found 1 novel and 7 known mutations. Our patients carried no other mutation associated with venous thrombosis. Our data stress the importance of extending the clinical investigation for connective tissue manifestations in homocystinuric patients to all the organs/systems involved in Marfan syndrome, also suggesting long term follow-ups for cardiovascular manifestations.

AB - Homocystinuria is a metabolic disorder associated with defects in genes encoding for methionine metabolism enzymes. Vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations are the major clinical features. We investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cystationine beta-synthase (CBS) gene and searched for genotype/phenotype correlations. We detected mild cardiovascular and skin connective tissue stigmas in these patients, never reported in homocystinuric patients before. We found 1 novel and 7 known mutations. Our patients carried no other mutation associated with venous thrombosis. Our data stress the importance of extending the clinical investigation for connective tissue manifestations in homocystinuric patients to all the organs/systems involved in Marfan syndrome, also suggesting long term follow-ups for cardiovascular manifestations.

KW - CBS gene

KW - Connective tissue manifestations

KW - Homocystinuria

KW - Vascular clinical manifestations

UR - http://www.scopus.com/inward/record.url?scp=65249144028&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=65249144028&partnerID=8YFLogxK

U2 - 10.1016/j.ijcard.2007.12.029

DO - 10.1016/j.ijcard.2007.12.029

M3 - Article

C2 - 18280597

AN - SCOPUS:65249144028

VL - 134

SP - 251

EP - 254

JO - International Journal of Cardiology

JF - International Journal of Cardiology

SN - 0167-5273

IS - 2

ER -