Ventricular septal defect, and Cyanosis

Diseases related with Ventricular septal defect and Cyanosis

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


Top matches:

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 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

Medium match CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD


Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Hernia
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

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Other less relevant matches:

Medium match HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7


Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: OMIM MENDELIAN

More info about HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7

Medium match CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA


Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

Medium match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Medium match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

Low match ISOLATED BILIARY ATRESIA


Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ISOLATED BILIARY ATRESIA Is also known as isolated atresia of bile ducts|non-syndromic biliary atresia

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED BILIARY ATRESIA

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Cyanosis

Symptoms // Phenotype % cases
Abnormal cardiac septum morphology Common - Between 50% and 80% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular hypertrophy Jaundice Increased body weight Tetralogy of Fallot Failure to thrive Hepatomegaly Abnormal heart morphology Cryptorchidism Intestinal malrotation Asplenia Respiratory distress Pulmonary artery atresia

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Interrupted aortic arch Generalized hypotonia Polysplenia Pulmonary valve atresia Growth delay Brachydactyly Hepatic failure Broad forehead Dolichocephaly Thin vermilion border Coarctation of aorta Heart murmur Right ventricular hypertrophy Atrioventricular canal defect Hypertelorism Peripheral pulmonary artery stenosis Scarring Congestive heart failure Cirrhosis Cholestasis Double outlet right ventricle Dark urine Transposition of the great arteries Situs inversus totalis Pulmonary arterial hypertension Sinusitis Patent foramen ovale Hydroureter Global developmental delay Mitral regurgitation Hydronephrosis Abnormality of the nasal bridge Umbilical hernia Retrognathia Gastroesophageal reflux Macrotia High forehead Conjugated hyperbilirubinemia Bile duct proliferation Hypothyroidism Hypoglycemia Postnatal growth retardation Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Portal hypertension Prominent forehead Craniosynostosis Sparse hair Attention deficit hyperactivity disorder Pectus carinatum Hypotrichosis Carious teeth Ichthyosis Hyperbilirubinemia Joint hypermobility Irritability Hyperactivity Pectus excavatum Posteriorly rotated ears Intrahepatic biliary atresia Extrahepatic biliary duct atresia Hearing impairment Scoliosis Micrognathia Strabismus Abnormal facial shape Ptosis Low-set ears High palate Feeding difficulties Delayed speech and language development Epicanthus Macrocephaly Delayed skeletal maturation Acholic stools Downslanted palpebral fissures Ventriculomegaly Anteverted nares Short neck Unconjugated hyperbilirubinemia Increased total bilirubin Hydrocephalus Cardiomyopathy Vomiting Biliary atresia Short nose Portal fibrosis Elevated hepatic transaminase Webbed neck High, narrow palate Abnormally large globe Neurodevelopmental delay Freckling Natal tooth Atopic dermatitis Feeding difficulties in infancy Arnold-Chiari type I malformation Broad neck Abnormality of the elbow Hiatus hernia Fragile nails Cataract Hypomagnesemia Enlarged cisterna magna Aplasia/Hypoplasia of the eyebrow Abnormality of the testis Redundant neck skin Abnormality of refraction Slow-growing hair Thickened helices Abnormality of the pulmonary artery Dermal translucency Muscular hypotonia Abnormality of the intervertebral disk Superior pectus carinatum Abnormal location of ears Loose anagen hair Broad fingertip Abnormality of coagulation Right bundle branch block Seizures Hoarse voice Growth hormone deficiency Wide intermamillary distance Dandy-Walker malformation Eczema Low posterior hairline Thick lower lip vermilion Generalized neonatal hypotonia Sparse scalp hair Glossoptosis Thin skin Cafe-au-lait spot Epiphyseal stippling Hyperpigmentation of the skin Severe global developmental delay Hypoplastic toenails Hypocalcemia Abnormality of the fingernails Abnormal palate morphology Infantile muscular hypotonia Arnold-Chiari malformation Short stature Optic nerve hypoplasia Coarse hair Relative macrocephaly Deep philtrum Nasal speech Failure to thrive in infancy Overfolded helix Increased intracranial pressure Malabsorption Intellectual disability Abnormal vertebral morphology Common atrium Pulmonary artery hypoplasia Mitral atresia Hypoplasia of right ventricle Interrupted inferior vena cava with azygous continuation Atrial situs inversus Respiratory failure Polyhydramnios Apnea Anal atresia Vesicoureteral reflux Aganglionic megacolon Aortic valve stenosis Right aortic arch Bicuspid aortic valve Tracheoesophageal fistula Bilateral cryptorchidism Hypoplastic left heart Ectrodactyly Abnormal lung lobation Single umbilical artery Duodenal atresia Volvulus Hypoxemia Pulmonary insufficiency Ureteropelvic junction obstruction Duodenal stenosis Abnormal tricuspid valve morphology Total anomalous pulmonary venous return Meckel diverticulum Tricuspid regurgitation First degree atrioventricular block Primum atrial septal defect Midsystolic murmur Inlet ventricular septal defect Dextrotransposition of the great arteries Levotransposition of the great arteries Edema Hernia Inguinal hernia Mitral valve prolapse Hydrops fetalis Spontaneous abortion Mitral stenosis Nasal polyposis Tricuspid valve prolapse Arteria lusoria Tricuspid atresia Urethral diverticulum Dyskinesia Otitis media Dextrocardia Ciliary dyskinesia Chronic sinusitis Abnormal aortic valve morphology Complete atrioventricular canal defect Anomalous pulmonary venous return Heterotaxy Accessory spleen Absent gallbladder Axenfeld anomaly Triangular face Abnormality of the skeletal system Splenomegaly Renal insufficiency Mandibular prognathia Acidosis Proteinuria Abnormality of the liver Retinopathy Stroke Pruritus Hematuria Renal cyst Pigmentary retinopathy Absence of the pulmonary valve Renal hypoplasia Renal dysplasia Pointed chin Rickets Long nose Renal tubular acidosis Posterior embryotoxon Exocrine pancreatic insufficiency Poor coordination Pulmonary artery stenosis Wolff-Parkinson-White syndrome Cholestatic liver disease Butterfly vertebrae Cognitive impairment Tetralogy of Fallot with absent pulmonary valve Annular pancreas Respiratory tract infection Right-to-left shunt Abnormality of the pulmonary vasculature Abnormality of the pulmonary veins Muscle weakness Anemia Intrauterine growth retardation Clinodactyly Arrhythmia Clinodactyly of the 5th finger Recurrent respiratory infections Proptosis Dyspnea Paralysis Overriding aorta Hemiparesis Easy fatigability Clubbing Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Truncus arteriosus Breathing dysregulation Right ventricular failure Abnormal nasal morphology Endocarditis Atretic gallbladder



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