Ventricular septal defect, and Abnormality of the skin

Diseases related with Ventricular septal defect and Abnormality of the skin

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


Top matches:

Low 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

Low match ATRIAL SEPTAL DEFECT 2; ASD2


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: MESH OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 2; ASD2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ATRIAL SEPTAL DEFECT 8; ASD8


Related symptoms:

  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 8; ASD8

Low match ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5


The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (OMIM ), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (OMIM ) (summary by Carmi et al., 1992).For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (OMIM ).

Related symptoms:

  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology
  • Atrioventricular canal defect


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5

Low 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

Low 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

Low 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

Low match LONG QT SYNDROME 10; LQT10


Related symptoms:

  • Ventricular septal defect
  • Sudden cardiac death
  • Atrial fibrillation
  • Bradycardia
  • Ventricular arrhythmia


SOURCES: OMIM MESH MENDELIAN

More info about LONG QT SYNDROME 10; LQT10

Low match TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1


The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.

TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 Is also known as d-tga

Related symptoms:

  • Ventricular septal defect
  • Respiratory distress
  • Abnormal cardiac septum morphology
  • Cyanosis
  • Transposition of the great arteries


SOURCES: OMIM MESH MENDELIAN

More info about TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Abnormality of the skin

Symptoms // Phenotype % cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Abnormal cardiac septum morphology Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ventricular septal defect and Abnormality of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Sudden cardiac death

Rare Symptoms - Less than 30% cases


Cyanosis Atrioventricular canal defect Primum atrial septal defect Arrhythmia Atrioventricular block Prolonged QT interval Abnormal T-wave Respiratory distress T-wave alternans Bradycardia Transposition of the great arteries Asplenia Dextrotransposition of the great arteries Ventricular arrhythmia Pulmonary arterial hypertension Atrial fibrillation Pulmonic stenosis Inlet ventricular septal defect Midsystolic murmur First degree atrioventricular block Perimembranous ventricular septal defect Muscular ventricular septal defect Complete atrioventricular canal defect Dextrocardia Truncus arteriosus Levotransposition of the great arteries



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Tapered finger, related diseases and genetic alterations Myopia and Abnormality of the skin, related diseases and genetic alterations Neuroblastoma and Abnormality of the ribs, related diseases and genetic alterations Optic atrophy and Delayed puberty, related diseases and genetic alterations Failure to thrive and Encephalopathy, related diseases and genetic alterations Muscular hypotonia and Lumbar hyperlordosis, related diseases and genetic alterations Generalized hypotonia and Craniosynostosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more