Cardiomyopathy, familial hypertrophic, 21

General Information (adopted from Orphanet):

Synonyms, Signs: CMH21
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614676
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
16651466 [IBIS]
Age of onset: Adolescent
Adult
16651466 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, familial hypertrophic, 21 is associated with 27.2-Mb critical disease interval on chromosome 7p12.1-q2.1 (PMID:16651466).

Symptom Information: Sort by abundance 

1
(HPO:0001635) Congestive heart failure 16651466 IBIS 232 / 7739
2
(HPO:0001678) Atrioventricular block 16651466 IBIS 59 / 7739
3
(HPO:0000822) Hypertension 16651466 IBIS 224 / 7739
4
(HPO:0003115) Abnormal EKG 16651466 IBIS 44 / 7739
5
(HPO:0001634) Mitral valve prolapse 16651466 IBIS 69 / 7739
6
(HPO:0001645) Sudden cardiac death 16651466 IBIS 84 / 7739
7
(HPO:0003116) Abnormal echocardiogram 16651466 IBIS 33 / 7739
8
(HPO:0001712) Left ventricular hypertrophy 16651466 IBIS 76 / 7739
9
(HPO:0011675) Arrhythmia 16651466 IBIS 226 / 7739
10
(HPO:0001685) Myocardial fibrosis 16651466 IBIS 30 / 7739
11
(HPO:0001639) Hypertrophic cardiomyopathy 16651466 IBIS 137 / 7739
12
(OMIM) Interstitial fibrosis 16651466 IBIS 24 / 7739
13
(OMIM) Right axis deviation 16651466 IBIS 6 / 7739
14
(MedDRA:10050380) Electrocardiogram T wave abnormal 16651466 IBIS 5 / 7739
15
(OMIM) Posterior wall thickness increased 16651466 IBIS 1 / 7739
16
(OMIM) Interventricular septum thickness increased 16651466 IBIS 1 / 7739

Associated genes:

7p12.1-q2.1 locus;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and ...
Clinical Description OMIM Song et al. (2006) studied 32 individuals from a large 4-generation family segregating autosomal dominant hypertrophic cardiomyopathy. The 9 affected family members had left ventricular hypertrophy (LVH) by electrocardiography (ECG) and/or echocardiography; the youngest patient was diagnosed at ...
Molecular genetics OMIM - Exclusion Studies

In a large 4-generation family segregating autosomal dominant hypertrophic cardiomyopathy mapping to chromosome 7p12.1-q21, Song et al. (2006) analyzed 9 candidate genes and did not identify any disease-causing mutations.