Congestive heart failure, and Abnormality of the eye

Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5

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 ).

• Ventricular septal defect
• Congestive heart failure
• Truncus arteriosus

SOURCES: OMIM MENDELIAN

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

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

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Cognitive impairment

SOURCES: ORPHANET OMIM MENDELIAN

Low match CARDIOMYOPATHY, DILATED, 1CC; CMD1CC

• Cardiomyopathy
• Congestive heart failure
• Dilated cardiomyopathy

SOURCES: MESH OMIM MENDELIAN

Low match MITRAL VALVE PROLAPSE 2; MVP2

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

• Congestive heart failure
• Mitral valve prolapse
• Mitral regurgitation

SOURCES: MESH OMIM MENDELIAN

Low match CARDIOMYOPATHY, DILATED, 1O; CMD1O

CARDIOMYOPATHY, DILATED, 1O; CMD1O Is also known as cardiomyopathy, dilated, with ventricular tachycardia

• Congestive heart failure
• Dilated cardiomyopathy
• Ventricular tachycardia
• Impaired myocardial contractility

SOURCES: MESH OMIM MENDELIAN

Low match CARDIOMYOPATHY, DILATED, 1U; CMD1U

• Cardiomyopathy
• Congestive heart failure
• Dementia
• Dilated cardiomyopathy
• Syncope

SOURCES: OMIM MESH MENDELIAN

Low match CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1

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

• Edema
• Congestive heart failure
• Abnormality of metabolism/homeostasis
• Mitral valve prolapse
• Mitral regurgitation

SOURCES: MESH OMIM MENDELIAN

Low match SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3

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 ).

• Congestive heart failure
• Vertigo
• Syncope
• Sick sinus syndrome

SOURCES: OMIM MENDELIAN

Low match VENTRICULAR SEPTAL DEFECT 2; VSD2

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 ).

• Hypertension
• Ventricular septal defect
• Congestive heart failure
• Abnormality of cardiovascular system morphology
• Arrhythmia

SOURCES: OMIM MENDELIAN

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

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. Genetic Heterogeneity of Hypertrophic CardiomyopathyAdditional forms of hypertrophic cardiomyopathy include CMH2 (OMIM ), caused by mutation in the TNNT2 gene (OMIM ) on chromosome 1q32; CMH3 (OMIM ), caused by mutation in the TPM1 gene (OMIM ) on chromosome 15q22; CMH4 (OMIM ), caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11; CMH6 (OMIM ), caused by mutation in the PRKAG2 gene (OMIM ) on chromosome 7q36; CMH7 (OMIM ), caused by mutation in the TNNI3 gene (OMIM ) on chromosome 19q13; CMH8 (OMIM ), caused by mutation in the MYL3 gene (OMIM ) on chromosome 3p21; CMH9 (see {188840}), caused by mutation in the TTN gene (OMIM ) on chromosome 2q31; CMH10 (see {160781}), caused by mutation in the MYL2 gene (OMIM ) on chromosome 12q24; CMH11 (OMIM ), caused by mutation in the ACTC1 gene (OMIM ) on chromosome 15q14; CMH12 (OMIM ), caused by mutation in the CSRP3 gene (OMIM ) on chromosome 11p15; CMH13 (OMIM ), caused by mutation in the TNNC1 gene (OMIM ) on chromosome 3p21; CMH14 (OMIM ), caused by mutation in the MYH6 gene (OMIM ) on chromosome 14q12; CMH15 (OMIM ), caused by mutation in the VCL gene (OMIM ) on chromosome 10q22; CMH16 (OMIM ), caused by mutation in the MYOZ2 gene (OMIM ) on chromosome 4q26; CMH17 (OMIM ), caused by mutation in the JPH2 gene (OMIM ) on chromosome 20q12; CMH18 (OMIM ), caused by mutation in the PLN gene (OMIM ) on chromosome 6q22; CMH19 (OMIM ), caused by mutation in the CALR3 gene (OMIM ) on chromosome 19p13; CMH20 (OMIM ), caused by mutation in the NEXN gene (OMIM ) on chromosome 1p31.1; CMH21, mapped to chromosome 7p12.1-q21; CMH22 (see {615248}), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21; CMH23 (see {612158}), caused by mutation in the ACTN2 gene (OMIM ) on chromosome 1q43; CMH24 (see {601493}), caused by mutation in the LDB3 gene (OMIM ) on chromosome 10q23; CMH25 (OMIM ), caused by mutation in the TCAP gene (OMIM ) on chromosome 17q12; CMH26 (OMIM ), caused by mutation in the FLNC gene (OMIM ) on chromosome 7q32; and CMH27 (OMIM ), caused by mutation in the ALPK3 gene (OMIM ) on chromosome 15q25.The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see {606566.0001}), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see {601253.0013}), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG ) and mitochondrial tRNA-isoleucine (MTTI ).

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 Is also known as cmh|asymmetric septal hypertrophy|hypertrophic subaortic stenosis, idiopathic|ventricular hypertrophy, hereditary|ash

• Cardiomyopathy
• Congestive heart failure
• Abnormality of metabolism/homeostasis
• Arrhythmia
• Hypertrophic cardiomyopathy

SOURCES: OMIM MENDELIAN