IllnessCardiomyopathy, arrhythmogenic right ventricular; differential diagnosis [EMQN 2023]

NGS +

[[Sanger]]

Arrhythmogenic right ventricular cardiomyopathy is a progressive dystrophy primarily of the right ventricular myocardium with fibrous-fat replacement and ventricular dilatation. It is clinically characterised by ventricular arrhythmias. There is a risk of sudden cardiac death. The disease can occur at any age, but usually begins at young or middle age. In about 50% of cases a genetic predisposition can be identified, which is mostly inherited autosomal-dominantly. There is incomplete penetrance and varying clinical expression. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1131/

• Alias: Arrhythmogenic right ventricular cardiomyopathy, ARVC
• Alias: Arrhythmogenic right ventricular dysplasia, ARVD
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AR (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 7, AD (TMEM43)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Myopathy, myofibrillar, 5 (FLNC)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myosin storage, AD (MYH7)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Naxos disease (JUP)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Salih myopathy (TTN)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Skin fragility-woolly hair syndrome (DSP)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
• Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
• Arrhythmogenic right ventricular dysplasia 10 (DSG2)
• Arrhythmogenic right ventricular dysplasia 11 (DSC2)
• Arrhythmogenic right ventricular dysplasia 11, mild palmoplantar keratoderma + woolly hair (DSC2)
• Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Arrhythmogenic right ventricular dysplasia 13 (CTNNA3)
• Arrhythmogenic right ventricular dysplasia 14 (CDH2)
• Arrhythmogenic right ventricular dysplasia 2 (RYR2)
• Arrhythmogenic right ventricular dysplasia 5 (TMEM43)
• Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Arrhythmogenic right ventricular dysplasia 9 (PKP2)
• Arrhythmogenic right ventricular dysplasia, familial (FLNC)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1BB (DSG2)
• Cardiomyopathy, dilated, 1E (SCN5A)
• Cardiomyopathy, dilated, 1G (TTN)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1MM (MYBPC3)
• Cardiomyopathy, dilated, 1P (PLN)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, with woolly hair and keratoderma (DSP)
• Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Cardiomyopathy, familial restrictive 5 (FLNC)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 18 (PLN)
• Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Cardiomyopathy, hypertrophic, 8 (MYL3)
• Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
• Left ventricular noncompaction 10 (MYBPC3)
• Left ventricular noncompaction 5 (MYH7)