Genetic Syndromes and Inheritance

Gene/chromosome: FBN1, chromosome 15; Inheritance: Autosomal dominant; Triad: Tall stature, arachnodactyly, ectopia lentis; Associated: Aortic root dilatation, mitral valve prolapse; Investigation: Echocardiography, slit-lamp examination, FBN1 testing

Gene/chromosome: COL3A1, chromosome 2; Inheritance: Autosomal dominant; Triad: Thin translucent skin, easy bruising, arterial/organ rupture; Associated: Aneurysm, arterial dissection, bowelterine rupture; Investigation: COL3A1 testing, vascular imaging

Gene/chromosome: TGFBR1, TGFBR2 and related genes; Inheritance: Autosomal dominant; Triad: Hypertelorism, bifid uvula/cleft palate, arterial tortuosity; Associated: Aortic aneurysm/dissection, widespread arterial aneurysms; Investigation: Echocardiography, CT/MR angiography, genetic testing

Gene/chromosome: 7q11.23 deletion involving ELN; Inheritance: Usually de novo; Triad: Elfin facies, supravalvular aortic stenosis, hypercalcemia; Associated: Peripheral pulmonary stenosis, hypertension; Investigation: Chromosomal microarray or FISH

Gene/chromosome: PTPN11 and other RAS-MAPK genes; Inheritance: Usually autosomal dominant; Triad: Short stature, webbed neck, characteristic facies; Associated: Pulmonary valve stenosis, hypertrophic cardiomyopathy; Investigation: Echocardiography, genetic testing

Gene/chromosome: TBX5, chromosome 12; Inheritance: Autosomal dominant; Triad: Radial-ray defects, atrial septal defect, conduction abnormalities; Associated: ASD, VSD, AV block; Investigation: ECG, echocardiography, TBX5 testing

Gene/chromosome: 22q11.2 deletion; Inheritance: Usually de novo; Triad: Thymic hypoplasia, hypocalcemia, congenital heart disease; Associated: Tetralogy of Fallot, interrupted aortic arch, truncus arteriosus; Investigation: Chromosomal microarray/FISH, calcium level

Gene/chromosome: Often sporadic; 22q11.2 deletion association; Inheritance: Usually sporadic; Triad: VSD, RV outflow obstruction, overriding aorta, RV hypertrophy; Associated: Cyanotic congenital heart disease; Investigation: Echocardiography

Gene/chromosome: Usually sporadic; familial cases may involve MYH7; Inheritance: Usually sporadic; Triad: Apical displacement of tricuspid valve, atrialized RV, tricuspid regurgitation; Associated: ASD, WPW syndrome; Investigation: Echocardiography

Gene/chromosome: No single gene; Inheritance: Not inherited; Triad: Mitral stenosis, ASD, left-to-right shunt; Associated: Pulmonary hypertension, atrial arrhythmias; Investigation: Echocardiography

Gene/chromosome: No single gene; Inheritance: Acquired complication of congenital shunt; Triad: Pulmonary hypertension, reversedidirectional shunt, cyanosis; Associated: VSD, ASD, PDA; Investigation: Echocardiography, right-heart catheterization

Gene/chromosome: DNAH5, DNAI1 and other ciliary genes; Inheritance: Usually autosomal recessive; Triad: Situs inversus, chronic sinusitis, bronchiectasis; Associated: Infertility, recurrent respiratory infections; Investigation: Chest CT, ciliary ultrastructure/function, genetic testing

Gene/chromosome: Multiple ciliary genes; Inheritance: Usually autosomal recessive; Triad: Chronic wet cough, chronic rhinosinusitis, recurrent otitis media; Associated: Bronchiectasis, infertility, situs abnormalities; Investigation: Nasal nitric oxide, ciliary function testing, genetic testing

Gene/chromosome: SERPINA1, chromosome 14; Inheritance: Codominant; Triad: Early emphysema, liver disease, panniculitis; Associated: COPD, cirrhosis, hepatocellular carcinoma; Investigation: Serum alpha-1 antitrypsin level, phenotypeenotype

Gene/chromosome: CFTR, chromosome 7; Inheritance: Autosomal recessive; Triad: Recurrent pulmonary infections, pancreatic insufficiency, elevated sweat chloride; Associated: Bronchiectasis, male infertility, diabetes; Investigation: Sweat chloride test, CFTR genetic testing

Gene/chromosome: Usually multifactorial; Inheritance: Not a single-gene syndrome; Triad: Snoring, witnessed apnea, daytime sleepiness; Associated: Hypertension, atrial fibrillation, pulmonary hypertension; Investigation: Polysomnography

Gene/chromosome: Autoimmune form associated with anti-GM-CSF antibodies; Inheritance: Usually acquired; Triad: Dyspnea, hypoxemia, crazy-paving pattern; Associated: Secondary forms with hematologic malignancy; Investigation: Serum anti-GM-CSF antibodies, BAL showing PAS-positive material