Genetics Flashcards by Sammy Gilg

Rendu-Osler-Weber syndrome

AKA - Hereditary hemorrhagic telangiectasia
Autosomal dominant
Pulmonary AVMs (hepatic and cerebral AVMs as well)
Can present with stroke

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Bland-White-Garland syndrome

Anomalous origins of the left coronary artery from the PA

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Turner syndrome clinical associations

Short stature
Premature ovarian failure
Sensorineural hearing loss
Webbing of neck
Lower extremity edema
Downslanting palpebral fissures
Widely spaced nipples, shield chest
Madelung deformity of the wrist
Bicuspid aortic valve
Coarctation
PAPVR

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Congenital rubella cardiac associations

Pulmonary artery stenosis
PDA
Tetralogy of Fallot
VSD
Coarctation (rare)

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Hypertrophic cardiomyopathy inheritance pattern

Autosomal dominant

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Down syndrome genetic mutation

Trisomy 21 translocation (3-4%), mosaicism (1%)

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Low tone, upslanting palpebral fissures, advanced maternal age, brushfield spots, low nasal bridge, single palmar crease

Down syndrome

Complete AV canal, VSD, ASD, PDA, ToF

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Polyvalvar disease, clenched hands with overlapping fingeres, nail hypoplasia, low set ears, small mouth

Trisomy 18 - Edward syndrome

Polyvalvar disease, VSD, ToF, pulmonary hypertension

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Orofacial clefts, micropthalmia, postaxial polydactyly, holoprosencephaly

Trisomy 13 - Patau syndrome

ASD, VSD, DORV, pulmonary hypertension

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Turner syndrome inheritance pattern

45X
De novo or X-linked

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Interrupted aortic arch type B genetic association

DiGeorge

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DiGeorge clinical features

Absent thymus
Hypocalcemia
Immunodeficiency
Cleft palate
Bulbous tip nose
Low set ears
Conotruncal defects (ToF, IAA-B, truncus) or aortic arch anomalies

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DiGeorge genetic inheritance

22q11.2 microdeletion

De novo in 90%, can be autosomal dominant

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Williams syndrome genetic mutation

7q11.23 microdeletion
De novo or Autosomal dominant

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Supravalvar aortic stenosis, supravalvar pulmonary stenosis, short stature, hoarse voice, stellate irises

William syndrome

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Cri du chat genetic mutation

5p deletion
De novo or autosomal dominant

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Cat-like cry, PDA, VSD, microcephaly, low birthweight, micrognathia

Cri du chat

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Jacobsen syndrome genetic mutation

11q-telomere deletion
De novo or autosomal dominant

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Jacobsen sydrome clinical features and cardiac disease

VSD, LVOTO (MS/BAV, AS, Coarc), HLHS
Trigonocephaly, small low set ears, ptosis, epicanthal folds, broad nasal bridge, platelet dysfunction, immune deficiency, pyloric stenosis

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1p36 deletion syndrome cardiac associaton

LVNC cardiomyopathy

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CHARGE syndrome clinical features

Coloboma
Heart (conotruncal defects - ToF, DORV, IAA, AV canal, arch anomalies)
Atresia choanal
Retarded growth/development
Ear anomalies/deafness

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CHARGE syndrome genetic mutation

CHD7 mutation
De novo/autosomal dominant

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Alagille syndrome genetic mutation

JAG1 genet mutation
20p12 deletion
NOTCH2 gene

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Peripheral pulmonic stenosis, triangular facies, butterfly vertebrae, hyperbili, cholestasis

Alagille syndrome

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Upper extremity anomaly, absent thumb, common atrium, heart block, affected parent

Holt Oram

Genetic mutation in Holt Oram

TBX5 De novo/Autosomal dominant

Genetic mutation in Noonan Syndrome

PTPN11, RAF1

Pulmonic stenosis (dysplastic valve), HCM, short stature, neck webbing, low set ears

Noonan syndrome

LEOPARD syndrome

- Lentigines - ECG abnormalities (PR prolongation) - Ocular hepertelorism - Pulmonic valve stenosis - Abnormalities of genitalia - Retardation of growth - Deafness Same gene as Noonan (PTNP11)

Cafe au lait spots, axillary/inguinal freckling, cutaneous neurofibromas Lisch nodules

Neurofibromatosis type 1 Risk for coarc or PS

Broad thumbs, intellectual disability, PDA, septal defects

Rubinstein-Taybi

Genetic mutation in Rubinstein-Taybi

CREBBP and EP300 mutation De novo/autosomal dominant

Short stature, dental anomalies, polydactyly, common atrium, nail hypoplasia, neonatal teeth

Ellis van Creveld Autosomal recessive (EVC and EVC2)

Growth deficiency, wide palpebral fissures, arched broad eyebrows, large ears, left sided lesions (HLHS)

Kabuki syndrome

Marfan syndrome genetic mutation

FBN1

Tall thin habitus with long armspan, scoliosis, thick glasses, pectus, aortic root dilation, mitral valve prolapse, ectopia letntis

Marfan syndrome Indication to repair at > 45 mm dilated

Loeys Dietz genetic mutations

TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3

Arterial aneurysms, tortuosity, aortic root dilation, widely spaced eyes, bifid uvula, pectus, BAV, club foot

Loeys Dietz

Ehlers Danlos genetic mutation

COL5A1, COL5A2, COL3A1

Hypermobility and joint dislocations, thin skin, prominent veins, spontaneous arterial rupture, TV prolapse, MV prolapse, aortic root dilation

Ehlers Danlos

Kartagener syndrome genetic inheritance

Autosomal recessive 32 gene mutations

Dextrocardia, bronchiectasis, nasal polyps, situs inversus

Kartagener syndrome

Cardiac rhabdomyoma, angiofibromas, hypomelanotic macules, shagreen patch, infantile spasms

Tuberous sclerosis TSC1 and 2 (autosomal dominant)

Carney complex clinical association

Atrial myxoma recuring within a family with skin and extracardiac tumors

VACTERL clinical findings

- Vertebral - Anal - Cardiac -TEF with esophageal atresia -Radial or renal dysplasia - Limb anomalies

Duchenne muscular dystrophy genetic inheritance

DMD Frame shift mutations

Most common genes in HCM

MYH7 - autosomal dominant MYBPC3 - autosomal dominant TNNT2 - autosomal dominant TNNI3 - autosomal dominant/recessive TPM1 - autosomal dominant

Early childhood, delayed motor milestones, difficulty climbing stairs, Gower sign, dilated cardimyopathy

Duchenne Mean age of 14 for cardiomyopathy onset

Friedreich ataxia genetic mutation

FXN autosomal recessive

HCM, affected siblings with unaffected parents, ataxia, absent lower extremity reflexes

Friedreich Ataxia

MELAS cardiac manifestations

HCM, WPW, AV block Lactiic acidosis and strokes

Kearns-Sayre cardiac manifestation

Heart block - class 1 indication for pacemaker insertion

Pompe disease cardiac association

Short PR, HCM, giant ECG voltages (infantile onset severe biventricular hypertrophy) Most common glycogen storage disease to cause HCM Tx with enzyme replacement

Pompe disease genetic mutation

GAA Autosomal recessive

Hurler syndrome genetic mutation

IDUA - autosomal recessive

Hurler syndrome cardiac manifestation

HCM DCM thickening and dysfunction of mitral and aortic valves NO EYE INVOLVEMENT (difference between Hunter and Hurler)H

Hunter syndrome genetic mutation

IDS X-linked

Genetic mutation in Gaucher disease

GBA Autosomal reessive

Clinical findings in Gaucher disease

Hepatosplenomegaly, anemia, HCM, thrombocytopenia, calcification of mitral and aortic valves

Genetic mutation in Fabry disease

GLA X linked

Clinical findings in Fabry disease

Periodic pain crises, angiokeratomas, corneal clouiding, HCM

Male, neutropenia, growth delay, DCM, LVNC

Barth syndrome X linked

Heart lesions associated with maternal PKU

Left sided lesions (coarc, HLHS), ToF and septal defects

ASD, thumb or carpal bone defect genetic condition

Holt Oram TBX5 mutation

Lentigines, ECG changes (1st degree block), Ocular hypertelorism, Pulmonary stenosis, Abnormal genitals, Retarded growth, Deafness -- genetic syndrome and defect

LEOPARD syndrome Autosomal dominant PTPN11 or RAF1

Complete heart block and ASD genetic defect

NKX2.5 location on 5q

Genetic mutation that causes Kabuki syndrome

MLL2

Genetic conditions associated with PAPVR

Turner Syndrome and Noonan syndrome

Triangular shaped face, broad forehead, deep set eyes with biliary atresia and pulmonary stenosis

Alagile syndrome

Clinical features of Jacobsen syndrome

- Wide spaced eyes - Ptosis - Small ears - Thrombocytopenia - VSD - Left sided lesions (mitral valve abnormalities)

Cardiac defects with fetal retinoic exposure

Conotruncal defects

Cardiac defect with Ellis van Creveld

Large ASD

Arched eyebrows, broad thumbs, cryptorchidism, severe constipation, septal defects (PDA/ASD/VSD)

Rubinstein Taybi CREBBP mutation No succinylcholine

Which two conditions can be tested for with chromosomal microarray

22q11 Williams The majority of the other syndromes on boards are single gene disorders and not detected on CMA

Two main autosomal recessive diseases tested on boards

Kartagener Ellis van Creveld The majority are autosomal dominant

Elevated CK, DCM, skeletal muscle abnormalities

Test for DMD or Becker's Dystrophin gene abnormality

Genes associated with DCM and high risk for sudden arrhythmia associated death

EMD LMNA DES

Onset age < 20, pigmentary retinopathy, progressive external ophthalmoplegia, rapid progression to heart block

Kearns Sayre Mitochondrial deletion syndrome Class 1 indication for pacemaker

Giant ECG voltages, HCM in infant

Pompe disease Glycogen storage disease

Bone pain, thrombocytopenia, HSM, calcification of mitral and aortic valves, oculomotor apraxia

Gaucher disease Glucocerebrosidase deficiency

Males with severe periodic extremity pain, corneal clouding, renal disease, mitral valve disease, HCM

Fabry disease Alpha-galactosidase-A deficiency

Infantile onset HCM

Noonan or RASopathy

Most common heart disease associated with mucopolysaccharidosis

Mitral and aortic valve disease

Long QT with sensorineural hearing loss

Jervell and Lange-Nielsen syndrome - KCNQ1 gene mutation - Autosomal recessive

Marfan like features with intellectual disability

Homocystinuria -- also at risk for thromboembolic effects Diagnose with homocysteine levels