Uncommon Cardiomyopathies

  • Efstathia Prappa Evangelismos General Hospital, 2nd Cardiology Department
  • Fotios Tsakalis
  • Charalampos Kavouras
  • George Bakosis
  • Nikolaos Lavos
  • Antonios Sideris
Keywords: cardiomyopathy, Fabry disease, left ventricular hypertrophy, non-compaction cardiomyopathy, ventricular trabeculations

Abstract

Anderson-Fabry Disease (AFD) is an X-linked recessive lysosomal disorder, leading to multisystemic disease because of abnormal glycosphyngolipids widespread accumulation, the result of α-galactosidaseA deficient activity. Cardiac involvement is common; includes left ventricular hypertrophy and gradually impairing cardiac function. Although the disease is unveiled in childhood and culminates in cardiac, cerebrovascular and end-stage renal disease, diagnosis is often delayed or missed. Recently established enzyme replacement therapy (ERT) may improve most of the disease’s manifestations. Early diagnosis is thus crucial for AFD patient management.

Isolated non-compaction of the ventricular myocardium (IVNC) is a rare congenital form of cardiomyopathy. It is characterized by the postnatal persistence of the embryonic pattern of myoarchitecture, consistent of prominent trabeculations and deep intertrabecular recesses, and assumed to occur as a consequence of intrauterine arrest of myocardial compaction. Contemporary diagnosis has been facilitated by the introduction of specific morphologic criteria by echocardiography and magnetic resonance imaging. Management issues revolve around the management of heart failure, arrhythmias and thromboembolic events in order to prevent the significant morbidity and even mortality that has been associated with this entity. Significant overlapping with many other forms of cardiomyopathies suggest that non-compaction may be a morphologic trait rather than a distinct cardiomyopathy.
Published
2014-06-02
Section
REVIEWS