Congestive heart failure, and Abnormal lung morphology

Diseases related with Congestive heart failure and Abnormal lung morphology

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

Top matches:

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

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

Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see {178600}), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008). Genetic Heterogeneity of Pulmonary Venoocclusive DiseaseSee also PVOD2 (OMIM ), caused by mutation in the EIF2AK4 gene (OMIM ) on chromosome 15q15.

PULMONARY VENOOCCLUSIVE DISEASE Is also known as pvod

Related symptoms:

  • Hypertension
  • Edema
  • Congestive heart failure
  • Dyspnea
  • Pulmonary arterial hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY VENOOCCLUSIVE DISEASE

Other less relevant matches:

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

Brugada Syndrome 7Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (OMIM ). Atrial Fibrillation 16Atrial fibrillation (AF) is the most common cardiac arrhythmia in the clinical setting, with a prevalence of 1% in the general population; prevalence increases with age and reaches more than 8% in the ninth decade of life. AF accounts for more than 15% of strokes, and is associated with worsening heart failure and increased mortality. More than 30% of cases of AF are considered to be 'lone AF,' unassociated with coronary artery disease, hypertension, valvular heart disease, hyperthyroidism, heart failure, or structural heart disease (summary by Wang et al., 2010).For a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Hypertension
  • Congestive heart failure
  • Arrhythmia
  • Sudden cardiac death


SOURCES: MESH OMIM MENDELIAN

More info about BRUGADA SYNDROME 7; BRGDA7

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Abnormal lung morphology

Symptoms // Phenotype % cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Pulmonary edema Rare - less than 30% cases
Hypertrophic cardiomyopathy Rare - less than 30% cases

Other less frequent symptoms

Patients with Congestive heart failure and Abnormal lung morphology. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Cardiomyopathy Atrial fibrillation Sudden cardiac death Arrhythmia Increased serum lactate Atrial septal defect Cardiomegaly Dyspnea Edema Pulmonary artery stenosis Patent ductus arteriosus Hypoplastic left heart Left ventricular noncompaction Aortic aneurysm Ventricular flutter Left ventricular noncompaction cardiomyopathy Oliguria Abnormal myocardium morphology Subvalvular aortic stenosis Left ventricular hypertrophy Syncope Myxomatous mitral valve degeneration Dilated cardiomyopathy Pulmonary artery atresia Respiratory distress Hepatomegaly Tachycardia Platyspondyly Intellectual disability Irregular vertebral endplates Heberden's node Knee osteoarthritis Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Beaking of vertebral bodies Exostoses Arthropathy Short stature Pathologic fracture Osteoarthritis Hip dysplasia Joint hypermobility Aortic regurgitation Joint stiffness Pneumonia Pain Bicuspid aortic valve Pulmonary hypoplasia Aortic valve stenosis Atrioventricular block Headache ST segment elevation Atrial flutter Neoplasm of the lung Hyperthyroidism Abnormal heart valve morphology Neoplasm Respiratory tract infection Abnormality of cardiovascular system morphology Elevated jugular venous pressure Pulmonary venous occlusion Elevated pulmonary artery pressure Thromboembolism Pulmonary arterial hypertension Truncus arteriosus Elevated hepatic transaminase Paralysis Hydrops fetalis Lactic acidosis Mitral regurgitation Tetralogy of Fallot Staring gaze Histiocytoid cardiomyopathy Generalized muscle weakness Metabolic acidosis EEG abnormality Hepatic steatosis Acidosis Motor delay Muscle weakness Failure to thrive Decreased activity of mitochondrial respiratory chain Microvesicular hepatic steatosis Abnormality of mitochondrial metabolism Schmorl's node


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