**6. Non–compaction cardiomyopathy**

Non-compaction cardiomyopathy (NCCM) has been classified as a primary cardiomyopathy with a genetic etiology.The age of onset varies from neonatal to adult hood. There is variability in the clinical features which include heart failure, arrhythmias and thromboembolism, but patients can also be asymptomatic]. The most common congenital heart defects in NCCM are Ebstein's anomaly, septal defects and patent ductus arteriosus,

The patients have a thickened two-layered myocardium with a thin, compact, epicardial layer and a severely thickened endocardial layer with a 'spongy' appearance due to prominent


**Table 3.** Genes that cause ARVC.

**5. Arrhythmogenic right ventricular cardiomyopathy / dysplasia**

inherited disorder with a family history in 30 to 50% of the cases (Klauke, 2010).

Cox&Hauer, 2011).

112 Cardiomyopathies

people and athletes (Maron, 2006).

cases that cause the disorder. (See Table 3)

2000; Schonberger, 2001; Cox&Hauer, 2011).

**6. Non–compaction cardiomyopathy**

Ebstein's anomaly, septal defects and patent ductus arteriosus,

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/ARVD) is a commonly

The prevalence has been estimated 1:2000 to 1:5000 in the general population (Peters 2006,

ARVC is characterized by fibro-fatty replacement of the myocardium with a marked involve‐ ment of the right ventricle. ARVC can be defined by the presence either sectored or global right ventricular dysfunction. The left ventricular abnormalities which lead to DCM may take place later. Clinical features include tachyarrhythmias, electrocardiographic abnormalities, systolic heart failure, syncope and sudden death. ARVC is a frequent cause of sudden death in young

It is transmitted with an autosomal dominant pattern, though autosomal recessive families have also been reported. Incomplete penetrance and great variability in the symptoms have been observed (Hamid, 2002; Awad, 2008; Eliott, 2008; Klauke, 2010, Cox&Hauer, 2011).

Desmosomes are intercellular junctions that link intermediate filaments to the plasma membrane and are essential to tissues that experience mechanical stress such as the myocar‐ dium. Mutations in the cardiac desmosome genes are to be held responsible for most of the

The mutations p.S13F, p.E114del and p.N116S in the desmin gene have the same ARVC cardiac phenotype. In transfection cells aggresome formation in the cytoplasm was observed (Van Titelen, 2007; Vernengo, 2010; Klauke, 2010). Only recently has it been proven that seven members of the Swedish family with ARVC7 had the p.Pro419Ser mutation in *DES*, instead of

Naxos disease and Carvajal disease are ARVC inherited in an autosomal recessive pattern. The former is caused by mutations in the plakoglobin gene on chromosome 17q21,2 and the latter by mutations in the desmoplakin gene on chromosome 6p24 (Protonotarios, 1986; McKoy,

Non-compaction cardiomyopathy (NCCM) has been classified as a primary cardiomyopathy with a genetic etiology.The age of onset varies from neonatal to adult hood. There is variability in the clinical features which include heart failure, arrhythmias and thromboembolism, but patients can also be asymptomatic]. The most common congenital heart defects in NCCM are

The patients have a thickened two-layered myocardium with a thin, compact, epicardial layer and a severely thickened endocardial layer with a 'spongy' appearance due to prominent

a mutation linked to chromosome 10q23.2 (Melberg, 1999; Hedberg, 2012).

trabeculations and intertrabecular recesses (Hermida-Prieto, 2004; Freedom, 2005; Budde, 2007; Monserrat, 2007; Klaassen, 2008)

The majority of the patients have an autosomal dominant mode of inheritance.

Mutations in several genes coding for sarcomeric proteins have been described in NCCM, such as β-myosin heavy chain (*MYH7*), cardiac myosin-binding protein C (*MYBPC3*), α-cardiac actin (*ACTC1*), cardiac troponin T (*TNNT2*), α-tropomyosin (*TPM1*) and cardiac troponin I (*TNNI3).* MYH7 has been reported to be the most frequent disease gene in NCCM in the absence of HCM (Ichida, 2001; Hermida-Prieto. 2004; Vatta, 2003; Shan, 2008).

### **7. Takotsubo cardiomyopathy**

Takotsubo cardiomyopathy is characterized by an acute but transitient LV systolic dysfunction without atherosclerotic coronary artery disease and it is triggered by psychological stress (Sharkey, 2005; Sealove, 2008).
