Congestive heart failure, and Ventricular septal defect

Diseases related with Congestive heart failure and Ventricular septal defect

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


Top matches:

High match GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

Medium match VENTRICULAR SEPTAL DEFECT 2; VSD2


Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {2,3:Wang et al., 2011, 2011}).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology
  • Arrhythmia


SOURCES: OMIM MENDELIAN

More info about VENTRICULAR SEPTAL DEFECT 2; VSD2

Medium match VENTRICULAR SEPTAL DEFECT 1; VSD1


Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2 ), tetralogy of Fallot (see TOF, {187500}), and endocardial cushion defects (AVSD4 ). Genetic Heterogeneity of Ventricular Septal DefectVSD2 (OMIM ) is caused by mutation in the CITED2 gene (OMIM ) on chromosome 6q24; VSD3 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34.Somatic mutations in the HAND1 gene (OMIM ) have been identified in tissue samples from patients with VSD.

Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VENTRICULAR SEPTAL DEFECT 1; VSD1

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Other less relevant matches:

Medium match PATENT DUCTUS ARTERIOSUS 3; PDA3


The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by Hajj and Dagle, 2012).For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Patent ductus arteriosus
  • Abnormal heart morphology
  • Hypoplastic left heart


SOURCES: OMIM MENDELIAN

More info about PATENT DUCTUS ARTERIOSUS 3; PDA3

Medium 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

Medium match VENTRICULAR SEPTAL DEFECT 3; VSD3


Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7 ), tetralogy of Fallot (see TOF, {187500}), conotruncal malformations (see {217095}), and hypoplastic left heart syndrome (HLHS2 ).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VENTRICULAR SEPTAL DEFECT 3; VSD3

Medium match ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3


Related symptoms:

  • Hypertension
  • Congestive heart failure
  • Cyanosis
  • Pulmonary arterial hypertension
  • First degree atrioventricular block


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3

Medium 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

Medium match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2


Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

Medium match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Top 5 symptoms//phenotypes associated to Congestive heart failure and Ventricular septal defect

Symptoms // Phenotype % cases
Abnormal heart morphology Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Sudden cardiac death Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoplastic left heart Patent ductus arteriosus Atrial fibrillation Pulmonary arterial hypertension Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Restrictive cardiomyopathy Mitral regurgitation Ventricular arrhythmia Left ventricular hypertrophy Left ventricular noncompaction Hydrops fetalis Syncope Dilated cardiomyopathy Cardiomyopathy Pulmonary artery stenosis Right bundle branch block Tachycardia Respiratory distress Exercise intolerance Ventricular tachycardia Atrioventricular block Abnormal facial shape Bundle branch block Right ventricular failure Pulmonary embolism Left bundle branch block Wolff-Parkinson-White syndrome Concave nasal ridge Abnormal myocardium morphology Abnormal left ventricle morphology Abnormal thrombosis Subvalvular aortic stenosis Biventricular hypertrophy Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Myxomatous mitral valve degeneration Mitral stenosis Pulmonary artery atresia Midsystolic murmur Truncus arteriosus Perimembranous ventricular septal defect Pulmonic stenosis Hypertrophic cardiomyopathy Myocarditis ST segment depression Cyanosis First degree atrioventricular block Primum atrial septal defect Inlet ventricular septal defect Aortic aneurysm Mitral valve prolapse Coarctation of aorta Patent foramen ovale Endocardial fibroelastosis Edema Tetralogy of Fallot Aortic valve stenosis Aortic regurgitation Bicuspid aortic valve Abnormality of the fascia



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