Cardiomyopathy, and Atrial septal defect

Diseases related with Cardiomyopathy and Atrial septal defect

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Atrial septal defect that can help you solving undiagnosed cases.


Top matches:

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11


Related symptoms:

  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Arrhythmia
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Dilated cardiomyopathy
  • Tetralogy of Fallot
  • Atrial fibrillation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5

Low match CARDIOMYOPATHY, DILATED, 1R; CMD1R


Related symptoms:

  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1R; CMD1R

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Other less relevant matches:

Low match CARDIOMYOPATHY, DILATED, 1Y; CMD1Y


Related symptoms:

  • Pain
  • Respiratory distress
  • Cardiomyopathy
  • Edema
  • Atrial septal defect


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1Y; CMD1Y

Low match ATRIAL SEPTAL DEFECT 4; ASD4


Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 4; ASD4

Low match FAMILIAL BICUSPID AORTIC VALVE


Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Low match BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

Low match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Atrial septal defect

Symptoms // Phenotype % cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Atrial fibrillation Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Bicuspid aortic valve Global developmental delay Abnormal heart morphology Left ventricular noncompaction Myocarditis Intellectual disability Left ventricular hypertrophy Arrhythmia Sudden cardiac death Dyspnea

Rare Symptoms - Less than 30% cases


Cardiac arrest Endocardial fibroelastosis Coarctation of aorta Dilatation Hypertension Left ventricular noncompaction cardiomyopathy Ventricular tachycardia Tachycardia Secundum atrial septal defect Mitral stenosis Ventricular hypertrophy Asymmetric septal hypertrophy Myocardial infarction Ventricular arrhythmia Pulmonary arterial hypertension Syncope Double outlet right ventricle Short stature Aortic valve stenosis Leukoencephalopathy Absence seizures Hoarse voice IgA deficiency Decreased antibody level in blood Recurrent skin infections Immunodeficiency Abnormality of the cerebral white matter Recurrent infections Obesity Intellectual disability, mild Tremor Delayed speech and language development Failure to thrive Growth delay Seizures Cognitive impairment Unilateral renal hypoplasia Rod-cone dystrophy Low-set ears Pulmonic stenosis Wide mouth Webbed neck Mandibular prognathia Prominent forehead Short neck Downslanted palpebral fissures Macrocephaly Epicanthus Myofiber disarray Hypogonadism Abnormal facial shape Hypertelorism Thick vermilion border External genital hypoplasia Renal hypoplasia Postaxial hand polydactyly Postaxial polydactyly Retinal degeneration Polydactyly Ptosis Atrioventricular block Cardiomyocyte hypertrophy Palpitations Aortic dissection Hypoplastic left heart Heart murmur Aortic aneurysm Aortic regurgitation Fever Patent foramen ovale Mitral valve prolapse Chest pain Aortic valve calcification Edema Respiratory distress Pain ST segment depression Restrictive cardiomyopathy Tetralogy of Fallot T-wave inversion Heart block Mitral regurgitation Thoracic aortic aneurysm Aortic arch aneurysm Premature atrial contractions Left bundle branch block Endocardial fibrosis Biventricular hypertrophy Supraventricular arrhythmia Left ventricular failure Myocardial fibrosis Reduced ejection fraction Supraventricular tachycardia Right ventricular hypertrophy Abnormal EKG Ascending aortic dissection Esophageal atresia Bundle branch block Ventricular fibrillation Thoracic aorta calcification Bicuspid pulmonary valve Abnormality of the left ventricular outflow tract Mitral atresia Cystic medial necrosis Hypoplastic aortic arch Abnormality of the sternum



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