Uhl anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: ARVD1
ARVC1
Arrhythmogenic right ventricular cardiomyopathy 1
Cardiomyopathy, right ventricular dilated, included
Arrhythmogenic right ventricular dysplasia, familial, 1
Number of Symptoms 25
OrphanetNr: 3403
OMIM Id: 107970
ICD-10: Q24.8
UMLs: C0265857
MeSH: C536932
MedDRA: 10048951
Snomed: 2829000

Prevalence, inheritance and age of onset:

Prevalence: 84 cases
Inheritance: Autosomal recessive
Monogenic
Autosomal dominant
8736609 [IBIS]
Age of onset: Neonatal
Infancy
15639475 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated arrhythmogenic right ventricular dysplasia
 -Rare cardiac disease
 -Rare genetic disease
Unclassified cardiomyopathy
 -Rare cardiac disease

Comment:

ARVD1 is caused by mutation in TGFB3 (PMID:15639475).

Symptom Information: Sort by abundance 

1
(HPO:0003119) Abnormality of lipid metabolism 8736609 IBIS 60 / 7739
2
(MedDRA:10061228) Lipomatosis 8736609 IBIS 2 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 9466574 IBIS 214 / 7739
4
(HPO:0003565) Elevated erythrocyte sedimentation rate 9466574 IBIS 31 / 7739
5
(HPO:0001637) Abnormality of the myocardium 9466574 IBIS 76 / 7739
6
(MedDRA:10059512) Apoptosis 9466574 IBIS 1 / 7739
7
(HPO:0001685) Myocardial fibrosis 8774331 IBIS 30 / 7739
8
(HPO:0012398) Peripheral edema 8815941 IBIS 12 / 7739
9
(HPO:0002094) Dyspnea 8815941 IBIS 132 / 7739
10
(HPO:0005133) Right ventricular dilatation 4015925 IBIS 14 / 7739
11
(HPO:0001678) Atrioventricular block 4015925 IBIS 59 / 7739
12
(HPO:0005115) Supraventricular arrhythmia 4015925 IBIS 13 / 7739
13
(HPO:0012723) Sinoatrial block 4015925 IBIS 4 / 7739
14
(HPO:0004755) Supraventricular tachycardia 4015925 IBIS 20 / 7739
15
(HPO:0010872) EKG: T-wave inversion 8142187 IBIS 19 / 7739
16
(HPO:0011675) Arrhythmia 1572740 IBIS 226 / 7739
17
(HPO:0001663) Ventricular fibrillation 1572740 IBIS 35 / 7739
18
(HPO:0001279) Syncope 1572740 IBIS 94 / 7739
19
(HPO:0001635) Congestive heart failure 1572740 IBIS 232 / 7739
20
(HPO:0011713) Left bundle branch block 1572740 IBIS 30 / 7739
21
(HPO:0001645) Sudden cardiac death 1572740 IBIS 84 / 7739
22
(HPO:0004306) Abnormality of the endocardium Very frequent [Orphanet] 8225662 IBIS 24 / 7739
23
(HPO:0011663) Right ventricular cardiomyopathy 8142187 IBIS 17 / 7739
24
(HPO:0004308) Ventricular arrhythmia 4015925 IBIS 46 / 7739
25
(OMIM) Fibrofatty replacement of right ventricular myocardium 8557918 IBIS 11 / 7739

Associated genes:

TGFB3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TGFB3 rs387906514 pathogenic RCV000013293.24
TGFB3 rs770828281 pathogenic RCV000013292.24

Additional Information:

Description: (OMIM) Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free ...
Clinical Description OMIM The major clinical features of ARVD are different types of arrhythmias with a left branch block pattern. The natural history is rarely characterized by cardiac failure, which is only present in those few patients with the cardiomegalic form. ...
Molecular genetics OMIM In 2 families with ARVD, Rampazzo et al. (2003) screened the exonic sequences of 4 candidate genes included in the critical region of 14q23-q24 that are expressed in the heart (POMT2, 607439; TGFB3, 190230; KIAA1036, 609011; and KIAA0759), ...
Population genetics OMIM Rampazzo (1993) stated that ARVD is unusually frequent in northern Italy; 14 families were diagnosed in the cardiology department of Padua University. Four families from the Piazzola sul Brenta region, descended from a common ancestor, were grouped together ...