Journal of Cardiovascular Translational Research

, Volume 2, Issue 4, pp 349–367

The Many Faces of Hypertrophic Cardiomyopathy: From Developmental Biology to Clinical Practice

  • Iacopo Olivotto
  • Francesca Girolami
  • Stefano Nistri
  • Alessandra Rossi
  • Luigi Rega
  • Francesca Garbini
  • Camilla Grifoni
  • Franco Cecchi
  • Magdi H. Yacoub
Article

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, characterized by complex pathophysiology, heterogeneous morphology, and variable clinical manifestations over time. Besides cardiac hypertrophy, the HCM phenotype is characterized by a host of manifestations, including mitral valve and subvalvar abnormalities, subaortic and mid-ventricular left ventricular (LV) obstruction, microvascular dysfunction, myocardial fibrosis, disarray, atrial remodeling, myocardial bridging of epicardial coronary arteries, LV apical aneurysms, and autonomic nervous system abnormalities. Such heterogeneous phenotype still lacks a comprehensive explanation, which cannot be accounted solely by genetic heterogeneity, despite the large number of genes and mutations involved. It is likely that pre-natal and acquired features deriving from the primary genetic defect interact with the environment to produce the final result evident in each patient. Based on novel insights provided by cardiac developmental biology, a common lineage ancestry of several HCM manifestations might be traced back to the pluripotent epicardium-derived cells, which early during heart development differentiate into interstitial fibroblasts, coronary smooth muscle cells, and atrio-ventricular endocardial cushions as mesenchymal cells. To date, the different faces of HCM have not been sufficiently liked or explained. We here attempt to address these issues by describing the various components of the disease, their origin, interaction, and clinical significance.

Keywords

Hypertrophic Cardiomyopathy Clinical Course Genetics Developmental Biology 

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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Iacopo Olivotto
    • 1
    • 5
  • Francesca Girolami
    • 1
    • 2
  • Stefano Nistri
    • 1
  • Alessandra Rossi
    • 1
  • Luigi Rega
    • 3
  • Francesca Garbini
    • 1
    • 2
  • Camilla Grifoni
    • 1
  • Franco Cecchi
    • 1
  • Magdi H. Yacoub
    • 4
  1. 1.Department of CardiologyCareggi University HospitalFlorenceItaly
  2. 2.Department of Genetic Diagnosis and PathologyCareggi University HospitalFlorenceItaly
  3. 3.Department of RadiologyCareggi University HospitalFlorenceItaly
  4. 4.Heart Science CenterImperial College LondonHarefieldUK
  5. 5.Cardiologia San LucaAzienda Ospedaliera Universitaria CareggiFlorenceItaly

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