Magnetic Resonance Imaging Characteristics in Carvajal Syndrome (Variant of Naxos Disease)

Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease

“…Although fibrotic replacement and aneurysmal presentation of the RV free wall has been already described in ARDV [1,2], it is not yet clearly associated with ND [3]. It is worth mentioning that in our case, CMR early identified the presence and the severity of RV involvement, although clinical, ECG and echocardiographic evaluation raised only suspicion of ND.…”

“…Low voltage and/or flat T waves in left precordial leads can be also observed in case of severe right or biventricular involvement. The echocardiographic evaluation usually reveals normal LV, RV dilatation, RV wall thinning and in late stages RV and/or biventricular dysfunction [1][2][3][4].Cardiac histology in ND reveals the characteristic fibrofatty replacement of the RV myocardium with aneurysms' formation and possible LV involvement. Usually it starts from right ventricular subepicardial layers towards the endocardium.…”

“…Defects in the linking sites of these proteins can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium and fibro-fatty replacement [1][2][3][4].…”

Hitherto unreported involvement pattern of Carvajal phenotype of cardiocutaneous syndrome: evaluation on cardiac MRI

“…Histologically, myocardial loss with fibrofatty replacement is seen in Naxos disease while myocardial loss with fibrosis, but without the fatty component is described in the Carvajal variant. Differentiation of these phenotypically similar diseases can be performed using cardiac MRI 3. Cardiac MRI may also aid in prognostication by quantifying the degree of fibrosis which will help predict the risk of arrhythmias and sudden cardiac death.…”

Evidence for genetic heterogeneity in Carvajal syndrome

“…This syndrome was first described in the mid-1990s by Rao et al (1996) and soon thereafter by Carval-Huerta (1998). Carvajal syndrome has been mainly documented in families as having an autosomal recessive mode of inheritance (Alcalai et al 2003;Kilic et al 2007;Kolar et al 2008;Mahoney et al 2010;Prompona et al 2007;Tanaka et al 2009) but has subsequently also been reported in cases with autosomal dominant inheritance. So far, the dominant expression of the disease is associated with a slightly different phenotype, since affected individuals have a variety of oligo/ hypodontia on top of the usual triad of signs (Chalabreysse et al 2011;Norgett et al 2006).…”