• Support: confirmed: 2 or more independent reports > 1% incidence
• References: PMID:16729972 (population study with screening of similar CHD patients and normal controls ) PMID:16025100 (population study with screening of similar CHD patients and normal controls )
• Inheritance: Isolated nonsyndromic bicuspid aortic valve
• Incidence: 48 patients with sporadic BAV: 57 heterozygous variants in the analyzed patients, 21 sequence variants within exons and 36 within intronic or 50-UTR sequences; 35 variants were described previously as polymorphisms: 2 sequence variants led to amino acid substitutions and are located in highly conserved regions of the NOTCH1 protein (Mohamed SA et al., 2006). Report of an European-American descent spanning 5 generations with 11 cases of CHD with autosomal-dominant inheritance: aortic valve disease in 9/11 (isolated abnormal aortic valve in 8/11; bicuspid aortic valve in 6/11; associated abnormal mitral valve and VSD in 1/11), isolated VSD in 1/11 and tetralogy of Fallot with a bicuspid pulmonary valve in 1/11: direct sequencing of NOTCH1 in a smaller, unrelated Hispanic family with aortic valve disease revealed a second mutation that segregated with three affected family members, all with bicuspid aortic valve (Garg V et al., 2005).
• Comments:
• Studies: (4)

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• Support: unconfirmed: a single case report
• References: PMID:15684060 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Char syndrome (OMIM:169100) is an autosomal dominant disorder consisting of patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
• Incidence:
• Comments:
• Studies: (1)

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• Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
• References: PMID:14666267 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Williams-Beuren syndrome (OMIM:194050): autosomal dominant: supravalvular aortic stenosis (SVAS) (isolated or associated with pulmonary artery stenosis, mitral valve prolapse (MVP), bicuspid aortic valve (BAV), aortic coarctation (CoAo), valvular aortic stenosis (VAS), subaortic stenosis, or with multiple peripheral pulmonary arterial stenoses) or isolated pulmonary artery stenosis, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia
• Incidence: ELN microdeletion in 17/20 patients with Williams-Beuren syndrome: CHD in 16 patients: isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16) (PMID:14666267)
• Comments:
• Studies: (0)

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• Support: unconfirmed: a single case report
• References: PMID:16439621 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Cardiofaciocutaneous (CFC) syndrome (OMIM:115150) is an autosomal dominant disorder characterized by distinctive facial appearance (high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, posteriorly angulated ears with prominent helices), heart defects (pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy), and mental retardation. Ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition
• Incidence: rare
• Comments:
• Studies: (1)

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• Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
• References: PMID:20711175 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Kabuki syndrome (OMIM:147920) is characterized by mental retardation, postnatal growth delay, facial dysmorphism (long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, fetal pads, and radiographic abnormalities of the vertebrae, hands, and hip joints.
• Incidence: Kabuki syndrome has an estimated incidence of 1 in 32,000 (Niikawa N et al., 1988).
• Comments:
• Studies: (1)

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Features: cryptorchidism, hypospadias, inguinal hernia, widely spaced nipples, short neck, abnormal hair whorl, developmental delay, facial dysmorphism (downslanting palpebral fissures, bilateral epicanthal folds, broad nose, smooth philtrum, thin vermilion border, low-set and posteriorly ears with simplified thickened helices, mild hypertelorism, strabismus)

Features: cryptorchidism, hypospadias, inguinal hernia, widely spaced nipples, short neck, abnormal hair whorl, developmental delay, facial dysmorphism (downslanting palpebral fissures, bilateral epicanthal folds, broad nose, smooth philtrum, thin vermilion border, low-set and posteriorly ears with simplified thickened helices, mild hypertelorism, strabismus)