Edema, and Sudden cardiac death

Diseases related with Edema and Sudden cardiac death

In the following list you will find some of the most common rare diseases related to Edema and Sudden cardiac death 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:

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


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1Y; CMD1Y

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

Other less relevant matches:

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

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

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Sudden cardiac death

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Ventricular tachycardia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Sudden cardiac death. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Palpitations Syncope Arrhythmia Myopathy Ventricular arrhythmia Cardiac arrest Tachycardia Hepatic steatosis Bundle branch block Ventricular fibrillation Cirrhosis Left bundle branch block Hypertension Right bundle branch block Atrial fibrillation Hypertrophic cardiomyopathy Hepatic failure Exercise intolerance Muscle weakness Respiratory distress Hepatomegaly Muscular hypotonia Atrioventricular block

Rare Symptoms - Less than 30% cases

Dicarboxylic aciduria Abnormal thrombosis Right ventricular failure Dehydration Infantile muscular hypotonia Hydrops fetalis Myalgia Ventricular hypertrophy Abnormality of the liver Encephalopathy Cardiomegaly Generalized edema Scleroderma Decreased liver function Patent ductus arteriosus Failure to thrive Generalized hypotonia Ascites Left ventricular hypertrophy Decreased plasma carnitine Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Myocarditis Abnormal myocardium morphology Chest pain Abnormal T-wave T-wave inversion Dilatation Right ventricular cardiomyopathy Pain Left ventricular noncompaction T-wave inversion in the right precordial leads Akinesia Limb-girdle muscular dystrophy Myoglobinuria Myopathic facies Reduced tendon reflexes Tachypnea Difficulty climbing stairs Hepatic fibrosis Decreased fetal movement Exertional dyspnea Waddling gait Rhabdomyolysis Fetal akinesia sequence Portal hypertension Cerebellar hemorrhage Limb muscle weakness Skeletal muscle atrophy Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Hepatocellular necrosis Exercise-induced myoglobinuria Hepatic encephalopathy Skeletal myopathy Flexion contracture Peripheral neuropathy Talipes equinovarus Arthrogryposis multiplex congenita Hyporeflexia Polyhydramnios Hepatosplenomegaly Difficulty walking Hypoketotic hypoglycemia Proximal muscle weakness Hyperlordosis Muscular dystrophy Esophageal varix Cognitive impairment Tubulointerstitial fibrosis Decreased activity of mitochondrial respiratory chain Severe lactic acidosis Arterial intimal fibrosis Cerebral edema Elevated serum creatine phosphokinase Prolonged prothrombin time Proximal tubulopathy Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Fatigable weakness Diarrhea Vomiting Feeding difficulties Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Elevated creatine kinase after exercise Increased lactate dehydrogenase activity Acute hepatic failure Irritability Limb joint contracture Hypoglycemia Seizures Elevated plasma acylcarnitine levels Renal insufficiency Thrombocytopenia Depressivity Progressive muscle weakness Acidosis Elevated hepatic transaminase EMG: myopathic abnormalities Nephropathy Stroke Lactic acidosis Metabolic acidosis Generalized muscle weakness Increased serum lactate Hyperammonemia Lethargy Pulmonary arterial medial hypertrophy Fatigue Elevated right atrial pressure Hyperkeratosis Pulmonary embolism Wolff-Parkinson-White syndrome Concave nasal ridge Restrictive cardiomyopathy Abnormal left ventricle morphology Biventricular hypertrophy Noncompaction cardiomyopathy Abnormality of the fascia Palmoplantar keratoderma Mitral regurgitation Palmoplantar hyperkeratosis Abnormal EKG Woolly hair Reduced ejection fraction Abnormal echocardiogram Right ventricular dilatation Diffuse palmoplantar hyperkeratosis Anemia Hypoplastic left heart Ventricular septal defect Carcinoma Fever Bradycardia Ventricular extrasystoles Pulmonary edema Paroxysmal atrial fibrillation Shortened QT interval Paroxysmal ventricular tachycardia Atrial septal defect Myocardial infarction Coronary artery atherosclerosis Abnormal facial shape Elevated erythrocyte sedimentation rate Multiple lipomas Myofibrillar myopathy ST segment elevation Peripheral edema Dilatation of the ventricular cavity Abnormal right ventricle morphology Abnormality of the left ventricular outflow tract Sinoatrial block Alopecia Erythema Pulmonary capillary hemangiomatosis Telangiectasia Recurrent respiratory infections Cough Vertigo Hypotension Cyanosis Pulmonary arterial hypertension Epistaxis Abnormal lung morphology Hoarse voice Porphyrinuria Hemoptysis Acrocyanosis Capillary hemangioma Right ventricular hypertrophy Edema of the lower limbs Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Hyperpigmentation in sun-exposed areas Viral hepatitis Skin rash Generalized hirsutism Hemolytic anemia Abnormal blistering of the skin Hepatitis Cutaneous photosensitivity Hypertrichosis Inflammatory abnormality of the skin Thin skin Hyperpigmentation of the skin Cerebral palsy Facial hypertrichosis Hypopigmented skin patches Skin vesicle Fragile skin Hepatocellular carcinoma Atypical scarring of skin Onycholysis Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Neonatal sepsis


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