Edema, and Syncope

Diseases related with Edema and Syncope

In the following list you will find some of the most common rare diseases related to Edema and Syncope that can help you solving undiagnosed cases.

Top matches:

Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.

FAMILIAL SHORT QT SYNDROME Is also known as sqts

Related symptoms:

  • Sudden cardiac death
  • Syncope
  • Atrial fibrillation
  • Palpitations
  • Bradycardia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL SHORT QT SYNDROME

Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

Other less relevant matches:

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1|arrhythmogenic right ventricular cardiomyopathy 1

Related symptoms:

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

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

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 Is also known as arvc11|arrhythmogenic right ventricular cardiomyopathy 11

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Dilatation
  • Arrhythmia
  • Hyperkeratosis


SOURCES: MESH OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Syncope

Symptoms // Phenotype % cases
Dyspnea Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Ventricular arrhythmia Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Syncope. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dilatation Abnormal myocardium morphology Tachycardia Dilated cardiomyopathy Sudden cardiac death Ventricular tachycardia Palpitations Atrioventricular block Ventricular fibrillation Pulmonary edema Abnormal left ventricle morphology Cardiac arrest Right bundle branch block Left bundle branch block Bundle branch block Atrial fibrillation Myopathy

Rare Symptoms - Less than 30% cases

T-wave inversion in the right precordial leads Myofibrillar myopathy Palmoplantar keratoderma T-wave inversion Right ventricular cardiomyopathy Peripheral edema Palmoplantar hyperkeratosis Ventricular septal defect Exercise intolerance Restrictive cardiomyopathy Biventricular hypertrophy Muscle weakness Orthostatic hypotension Ventriculomegaly Diffuse palmoplantar hyperkeratosis Reduced ejection fraction Abnormal echocardiogram Abnormal ventricular filling Hypertension Dehydration Left ventricular noncompaction Fever Left ventricular noncompaction cardiomyopathy Left ventricular hypertrophy Cardiomegaly Abnormal T-wave Respiratory distress Permanent atrial fibrillation Pain Histiocytoid cardiomyopathy Abnormality of cardiovascular system physiology Abnormality of the mitochondrion Skeletal myopathy Endocardial fibroelastosis Myocardial fibrosis Heart murmur Muscular hypotonia Eosinophilia Amyloidosis Inability to walk Pneumonia Neonatal hypoglycemia Abnormality of metabolism/homeostasis Hypothermia Right ventricular dilatation Recurrent hypoglycemia Woolly hair Abnormal EKG Multiple myeloma Nocturia Intermittent hypothermia Ascites Abnormal mitochondrial number Abnormal cardiac atrium morphology Hypotension Seizures Ptosis High palate Peripheral neuropathy Vomiting Hypoglycemia Myalgia Abnormality of the nervous system Abnormality of neutrophils Severe sensorineural hearing impairment Vertigo Thromboembolism Abnormal autonomic nervous system physiology Abnormality of the pulmonary veins Epiphora Lipoatrophy Congenital sensorineural hearing impairment Tachypnea EMG abnormality Cough Stroke Blurred vision Elevated serum creatine phosphokinase Fatigue Feeding difficulties Sensorineural hearing impairment Generalized hypotonia Impaired myocardial contractility Noncompaction cardiomyopathy Hyperkeratosis Asthma Myocarditis Multiple lipomas Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Cold urticaria Angioedema Chills Allergic rhinitis Immune dysregulation Vitiligo Hashimoto thyroiditis Urticaria Pruritus Dilatation of the ventricular cavity Autoimmunity Erythema Arthralgia Recurrent infections Ventricular flutter Oliguria Hepatomegaly Paroxysmal ventricular tachycardia Shortened QT interval Paroxysmal atrial fibrillation Ventricular extrasystoles Bradycardia ST segment elevation Abnormal right ventricle morphology Orthostatic syncope Constipation Cardiac amyloidosis Atrial arrhythmia Right ventricular hypertrophy Edema of the lower limbs Heart block Exertional dyspnea Pericardial effusion Impotence EMG: myopathic abnormalities Peripheral axonal neuropathy Paresthesia Abnormal cardiac septum morphology Diarrhea Abnormality of the left ventricular outflow tract Abnormality of the fascia Right ventricular failure Abnormal thrombosis Concave nasal ridge Wolff-Parkinson-White syndrome Pulmonary embolism Hypoplastic left heart Hydrops fetalis Mitral regurgitation Patent ductus arteriosus Abnormal facial shape Sinoatrial block Retrograde ejaculation


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