Noncompaction cardiomyopathy

Noncompaction cardiomyopathy (NCC) is a rare congenital disease of heart muscle that affects both children and adults.

As normal development progresses, these trabeculated structures undergo significant compaction that transforms them from spongy to solid.

[2] Likewise it is possible to have severe congestive heart failure,[3] even though the condition is present from birth, which may only manifest itself later in life.

[7] Furthermore, mutations in DES (desmin), TTN (titin), RBM20 and LMNA could be detected in a large cohort of LVNC patients.

[8][9][10] Loss-of-function variants in the NONO gene have been associated with an X-linked form of noncompaction cardiomyopathy in males who also often present with developmental delays.

These are similar to management programs for other types of cardiomyopathies which include the use of ACE inhibitors, beta blockers and aspirin therapy to relieve the pressure on the heart, surgical options such as the installation of pacemaker is also an option for those thought to be at a high risk of arrhythmia problems.

However, this study was based upon symptomatic patients referred to a tertiary-care center, and so were experiencing more severe forms of NCC than might be found typically in the population.

[citation needed] Due to its recent establishment as a diagnosis, and it being unclassified as a cardiomyopathy according to the WHO, it is not fully understood how common the condition is.

The low number of reported cases though is due to the lack of any large population studies into the disease and have been based primarily upon patients with advanced heart failure.

[17] Again due to this condition being established as a diagnosis recently, there are ongoing discussions as to its nature, and to various points such as the ratio of compacted to non-compacted at different age stages.

Major clinical correlates include systolic and diastolic dysfunction, associated at times with systemic embolic events.