Abstract
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy.
| Original language | English |
|---|---|
| Pages (from-to) | 225-235 |
| Number of pages | 11 |
| Journal | Heart Failure Clinics |
| Volume | 14 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Apr 2018 |
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Keywords
- Cardiomyopathy, Hypertrophic/diagnosis
- Genetic Markers/genetics
- Genetic Testing/methods
- Humans
- Mutation
- ras Proteins/genetics
Cite this
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies. / Calcagni, Giulio; Adorisio, Rachele; Martinelli, Simone; Grutter, Giorgia; Baban, Anwar; Versacci, Paolo; Digilio, Maria Cristina; Drago, Fabrizio; Gelb, Bruce D; Tartaglia, Marco; Marino, Bruno.
In: Heart Failure Clinics, Vol. 14, No. 2, 04.2018, p. 225-235.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies
AU - Calcagni, Giulio
AU - Adorisio, Rachele
AU - Martinelli, Simone
AU - Grutter, Giorgia
AU - Baban, Anwar
AU - Versacci, Paolo
AU - Digilio, Maria Cristina
AU - Drago, Fabrizio
AU - Gelb, Bruce D
AU - Tartaglia, Marco
AU - Marino, Bruno
N1 - Copyright © 2017 Elsevier Inc. All rights reserved.
PY - 2018/4
Y1 - 2018/4
N2 - RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy.
AB - RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy.
KW - Cardiomyopathy, Hypertrophic/diagnosis
KW - Genetic Markers/genetics
KW - Genetic Testing/methods
KW - Humans
KW - Mutation
KW - ras Proteins/genetics
U2 - 10.1016/j.hfc.2017.12.005
DO - 10.1016/j.hfc.2017.12.005
M3 - Review article
C2 - 29525650
VL - 14
SP - 225
EP - 235
JO - Heart Failure Clinics
JF - Heart Failure Clinics
SN - 1551-7136
IS - 2
ER -