Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Research output: Contribution to journalReview article

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 languageEnglish
Pages (from-to)225-235
Number of pages11
JournalHeart Failure Clinics
Volume14
Issue number2
DOIs
Publication statusPublished - Apr 2018

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Hypertrophic Cardiomyopathy
Heart Failure
Congenital Heart Defects
Sirolimus
Mutation
Survival
Mortality
Genes
Therapeutics

Keywords

  • Cardiomyopathy, Hypertrophic/diagnosis
  • Genetic Markers/genetics
  • Genetic Testing/methods
  • Humans
  • Mutation
  • ras Proteins/genetics

Cite this

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title = "Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies",
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.",
keywords = "Cardiomyopathy, Hypertrophic/diagnosis, Genetic Markers/genetics, Genetic Testing/methods, Humans, Mutation, ras Proteins/genetics",
author = "Giulio Calcagni and Rachele Adorisio and Simone Martinelli and Giorgia Grutter and Anwar Baban and Paolo Versacci and Digilio, {Maria Cristina} and Fabrizio Drago and Gelb, {Bruce D} and Marco Tartaglia and Bruno Marino",
note = "Copyright {\circledC} 2017 Elsevier Inc. All rights reserved.",
year = "2018",
month = "4",
doi = "10.1016/j.hfc.2017.12.005",
language = "English",
volume = "14",
pages = "225--235",
journal = "Heart Failure Clinics",
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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

VL - 14

SP - 225

EP - 235

JO - Heart Failure Clinics

JF - Heart Failure Clinics

SN - 1551-7136

IS - 2

ER -