Table 2.
Demographic, clinical, and instrumental data of patients carrying pathogenic or likely pathogenic variants in uncommon genes with respect to the clinical diagnosis or suspicion of an inherited cardiac disease (cardiomyopathy or channelopathy).
| ID | Age at Diagnosis (Years) |
Sex | Family History | Symptoms * | ECG * | Gene | Nucleotide Variant (Aminoacid Change) |
Echocardiography/CMR ** | Definitive Diagnosis |
|---|---|---|---|---|---|---|---|---|---|
| NA01 | 20 | M | Negative for SCD and HCM | Exertional dyspnoea (NYHA Class II) | Signs of LVH, diffuse repolarization abnormalities | ABCC9 | c.2937G>A (p.Trp979Ter) | Symmetric LVH with MWT (18 mm) at the level of the basal IVS and first-degree diastolic dysfunction | HCM |
| NA02 | 47 | M | Negative for SCD, and ACM | Asymptomatic | Diffuse repolarization abnormalities | KCNE3 | c.-41+1G>C | Regional dyskinesia of right ventricle free wall. Identification of regional fibrosis with LGE | ACM |
| NA03 | 44 | M | Negative for SCD and HCM | Asymptomatic | Right axis deviation; delayed intraventricular left conduction | KCNQ1 | c.877C>T (p.Arg293Cys) | Symmetric LVH with MWT (22 mm) at the level of the basal IVS | HCM |
| NA04 | 51 | F | Negative for SCD and BrS | Syncope | Brugada type 1 pattern | MYBPC3 | c.906-1G>C | Normal wall thicknesses and chamber diameters | BrS |
| NA05 | 79 | M | Negative for SCD and HCM | Asymptomatic | diffuse repolarization abnormalities | PKP2 | c.1378+1G>C | Asymmetrical LVHMWT: 19 mm | HCM |
| NA06 | 9 | M | Negative for SCD and BrS | Asymptomatic | Flecainide-induced Brugada type 1 pattern | POLG | c.1402A>G (p.Asn468Asp) | Normal wall thicknesses and chamber diameters | BrS |
| NA07 | 20 | M | Positive for SCD and ACM | Syncope | Diffuse repolarization abnormalities | POLG | c.752C>T (p.Thr251Ile); c.1760C>T (p.Pro587Leu) | Normal wall thicknesses and chamber diameters. Presence of diffuse late gadolinium enhancement with subepicardial distribution in the basal segment of the inferior and lateral walls at CMR | ACM |
| NA08 | 18 | M | Negative for SCD and HCM | Exertional dyspnoea (NYHA Class II) | Signs of LVH, negative T-waves in aVL, V5, V6 leads | RAF1 | c.709G>A (p.Ala237Thr) | Asymmetric obstructive LVH with MWT (15 mm) at the level of the basal IVS | HCM |
Abbreviations: ACM, arrhythmogenic cardiomyopathy; BrS, Brugada syndrome; HCM, hypertrophic cardiomyopathy; LVH, left ventricular hypertrophy; LQTS, long QT syndrome; ECG, electrocardiogram; CMR, cardiac magnetic resonance; IVS, interventricular septum; MWT, maximal wall thickness; NYHA, New York Heart Association; SCD, sudden cardiac death; LGE, late gadolinium enhancement. * At first evaluation; ** at last follow-up.