In the following list you will find some of the most common rare diseases related to Congestive heart failure and Abnormality of the eye that can help you solving undiagnosed cases.
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 ).
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Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23
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SOURCES: ORPHANET OMIM MENDELIAN
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23
Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (OMIM ).
MITRAL VALVE PROLAPSE 2; MVP2 Is also known as myxomatous mitral valve prolapse 2|mitral valve prolapse, myxomatous 2|mmvp2
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CARDIOMYOPATHY, DILATED, 1O; CMD1O Is also known as cardiomyopathy, dilated, with ventricular tachycardia
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X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.
CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital|xmvd|myxomatous valvular dystrophy, x-linked
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Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by Holm et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 (OMIM ).
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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 ).
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Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse.
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 Is also known as cmh|asymmetric septal hypertrophy|hypertrophic subaortic stenosis, idiopathic|ventricular hypertrophy, hereditary|ash
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Symptoms // Phenotype | % cases |
---|---|
Cardiomyopathy | Uncommon - Between 30% and 50% cases |
Arrhythmia | Uncommon - Between 30% and 50% cases |
Dilated cardiomyopathy | Uncommon - Between 30% and 50% cases |
Mitral regurgitation | Rare - less than 30% cases |
Mitral valve prolapse | Rare - less than 30% cases |
Patients with Congestive heart failure and Abnormality of the eye. may also develop some of the following symptoms:
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