Cardiomyopathy, familial hypertrophic, 4

General Information (adopted from Orphanet):

Synonyms, Signs: CMH4 Cardiomyopathy, familial hypertrophic, 4, susceptibility to, included
Number of Symptoms 22
OrphanetNr:
OMIM Id: 115197
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 4 is caused by mutation in MYBPC3 (PMID:7493025, PMID:7493026).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 23840593 IBIS 92 / 7739
2
(HPO:0012664) Reduced ejection fraction 23840593 IBIS 32 / 7739
3
(HPO:0001635) Congestive heart failure 17937428 IBIS 232 / 7739
4
(HPO:0001639) Hypertrophic cardiomyopathy 9631872 IBIS 137 / 7739
5
(HPO:0003116) Abnormal echocardiogram 17937428 IBIS 33 / 7739
6
(HPO:0001716) Wolff-Parkinson-White syndrome 9241277 IBIS 21 / 7739
7
(HPO:0001279) Syncope 9562578 IBIS 94 / 7739
8
(HPO:0001681) Angina pectoris 9562578 IBIS 22 / 7739
9
(HPO:0001670) Asymmetric septal hypertrophy 17655857 IBIS 19 / 7739
10
(HPO:0003115) Abnormal EKG 9631872 IBIS 44 / 7739
11
(HPO:0001645) Sudden cardiac death Occasional [IBIS] 12% (n=281) 9562578 IBIS 84 / 7739
12
(HPO:0012248) Prolonged PR interval Rare [IBIS] 3% (n=69) 9631872 IBIS 6 / 7739
13
(HPO:0004756) Ventricular tachycardia 25740977 IBIS 55 / 7739
14
(HPO:0001712) Left ventricular hypertrophy Occasional [IBIS] 25% (n=69) 9631872, 9562578 IBIS 76 / 7739
15
(HPO:0002094) Dyspnea 9562578 IBIS 132 / 7739
16
(MedDRA:10057624) QRS axis abnormal Occasional [IBIS] 22% (n=69) 9631872 IBIS 2 / 7739
17
(MedDRA:10050380) Electrocardiogram T wave abnormal Occasional [IBIS] 29% (n=69) 9631872 IBIS 5 / 7739
18
(MedDRA:10050469) Holt-Oram syndrome 7623431 IBIS 1 / 7739
19
(MedDRA:10057576) Cardiac septal hypertrophy 23840593 IBIS 4 / 7739
20
(OMIM) Ventricular preexcitation, Wolff-Parkinson-White (in some patients) 9241277 IBIS 1 / 7739
21
(OMIM) Interventricular septal hypertrophy (1 patient) 23840593 IBIS 3 / 7739
22
(MedDRA:10051177) Electrocardiogram Q wave abnormal Occasional [IBIS] 29% (n=69) 9631872 IBIS 6 / 7739

Associated genes:

MYBPC3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Xin et al. (2007) studied 23 Old Order Amish infants with severe neonatal hypertrophic cardiomyopathy, 20 from the Geauga County settlement in Ohio, 1 from the Holmes County settlement in Ohio, and 2 from a settlement in New ...
Molecular genetics OMIM Both Watkins et al. (1995) and Bonne et al. (1995) demonstrated mutations in the MYBPC gene that cause CMH4 (600958.0001, 600958.0002, 600958.0003).

Niimura et al. (1998) identified 12 novel mutations in the MYBPC3 gene in probands ...