• Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
• References: PMID:20420808 (population study with screening of similar CHD patients and normal controls )
• Inheritance: VEGFA mutations were found in sporadic patients with non-syndromic left ventricle outflow tract obstruction (LVOTO). These mutations were carried by some family members, and average penetrance was 33.3%.
• Incidence:
• Comments:
• Studies: (1)

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• Support: unconfirmed: a single case report
• References: PMID:10053005 (population study with screening of similar CHD patients and normal controls )
• Inheritance: LEFTYA mutations underlie a rare cause of L-R malformations with or without complex heart defects.
• Incidence: rare
• Comments:
• Studies: (1)

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• Support: unconfirmed: a single case report
• References: PMID:18593716 (population study with screening of similar CHD patients and normal controls )
• Inheritance: sporadic aortic coarctation, as part of the spectrum of left-ventricular outflow tract obstruction malformations.
• Incidence: rare. missense mutations in NOTCH1 are significantly overrepresented in individuals with LVOT malformations compared to normal controls.
• Comments:
• Studies: (1)

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• Support: unconfirmed: a single case report
• References: PMID:14607454 (population study with screening of similar CHD patients and normal controls ) PMID:21276881 (population study with screening of similar CHD patients and normal controls )
• Inheritance:
• Incidence: One mutation in NKX2.5 was found in 1 out of 59 patients with sporadic aortic coarctation (CoAo) (McElhinney DB et al., 2003).
• Comments:
• Studies: (2)

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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: unconfirmed: a single case report
• References: PMID:16183809 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Holt-Oram Syndrome (OMIM:142900): autosomal dominant: preaxial radial ray upper limb defects (thumb anomaly (absent or triphalangeal, nonopposable, finger-like digit, both a proximal and a distal epiphyseal ossification center)) and CHD (ASD type 2 > VSD > ASD type 1)
• 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:12239725 (single case report ) PMID:12427653 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Alagille Syndrome (OMIM:118450) is an autosomal dominant disorder characterized by neonatal jaundice, eye anomalies (posterior embryotoxon and retinal pigmentary changes), cardiac anomalies (pulmonic valvular stenosis, ToF, peripheral arterial stenosis), bone defects ('butterfly' vertebrae and decrease in interpediculate distance in the lumbar spine), neurological abnormalities (absent deep tendon reflexes and poor school performance) and facial dysmorphic features (broad forehead, pointed mandible and bulbous tip of the nose).
• Incidence: McElhinney et al. studied the spectrum of cardiac anomalies associated with JAG1 positive Alagille syndrome. Mutations in the JAG1 gene were found in 154 out of 200 individuals with Alagille syndrome. Cardiac anomalies were present in 119 individuals carrying a JAG1 mutation. Nine patients presented with left-sided anomalies (6%), two of them with aortic coarctation.
• Comments:
• Studies: (2)

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• Support: unconfirmed: a single case report
• References: PMID:15742365 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Sotos syndrome
• Incidence: rare syndrome, 8-50% have CHDs
• Comments:
• Studies: (1)

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• Support: confirmed: 2 or more independent reports > 1% incidence
• 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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• Support: unconfirmed: a single case report
• References: PMID:17515436 (population study with screening of similar CHD patients and normal controls )
• Syndromes: Noonan Syndrome 1 (NS1) (OMIM:163950): autosomal dominant condition characterized by short stature, distinctive facial appearance (triangular face with ptosis, blue-green irides and low posterior hairline or webbed neck), congenital heart defects (pulmonic stenosis, septal defects, and hypertrophic cardiomyopathy) and Woolly-like consistency of hair.
• Incidence: Sznayer et al. reports on a single patient with PTPN11 positive Noonan syndrome which presented with an aortic coarctation.
• Comments:
• Studies: (1)

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• Support: confirmed: 2 or more independent reports > 1% incidence
• References: PMID:11078559 (review )
• Syndromes: Neurofibromatosis is an autosomal dominant disorder characterized particularly by cafe-au-lait spots and fibromatous tumors of the skin. Other features can be variable. Neurofibromatosis can phenotypically overlap with Noonan syndrome (NFNS) (OMIM:601321) including short stature, ptosis, midface hypoplasia, webbed neck, cardiac anomalies (valvular and supravalvular pulmonary stenosis), learning disabilities and muscle weakness. Mutations in the NF1 gene may also cause Watson syndrome (OMIM:193520). This autosomal dominant entity is characterized by pulmonic stenosis, cafe-au-lait spots and dull intelligence, without neurofibromata.
• Incidence: Lin et al., 2000 review the phenotypic spectrum of 2322 patients with NF1 mutations. Only 4 of them presented with Watson syndrome or NFNS. Cardiac anomalies were present in 54 out of 2322 NF1 positive patients. Pulmonic stenosis was present in 25 out of 2322 NF1 positive patients and aortic coarctation in 5.
• Comments:
• Studies: (1)

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• Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
• References: PMID:20730588 (population study with screening of similar CHD patients and normal controls )
• Syndromes: X-linked dominant periventricular heterotopia (OMIM:300049): hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta.
• Incidence:
• 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: facial dysmorphism

Features: facial dysmorphism

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)