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January 1993, Vol 147, No. 1 >
Article | January 1993

Cardiac Anomalies in Ataxia-Telangiectasia FREE

VITTORIA BASTIANON, MD; EMANUELE GIGLIONI, MD; LUISA BUSINCO, MD; MASSIMO FIORILLI, MD; LUCIANA CHESSA
Am J Dis Child. 1993;147(1):20-21. doi:10.1001/archpedi.1993.02160250022008.
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Sir.—Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of childhood1,2 in which the homozygotes have progressive neurologic disability and oculocutaneous telangiectasias. Other manifestations include increased cancer incidence, thymic hypoplasia with cellular and humoral (IgA and IgG2) immunodeficiencies, elevated serum level of α-fetoprotein, premature aging, and endocrine disorders such as insulinresistant diabetes mellitus. In vitro AT cells are characterized by hypersensitivity to ionizing radiation and increased rate of spontaneous and induced chromosomal breakage, together with nonrandom chromosomal rearrangements. A DNA-processing or repair protein is the suspected common denominator in this abnormality.3

Patients generally died in the second decade of life from sinopulmonary infections or lymphoreticular neoplasias. Heterozygous carriers of an AT gene, estimated to comprise about 1% of the general population, have an increased risk of cancer and ischemic heart disease.4 To our knowledge, the cardiovascular anomalies have not been investigated in AT homozygotes to date. We report

REFERENCES

1 +
Boder E.  Ataxia-telangiectasia: an overview . In: Gatti RA, Swift M, eds. Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood . New York, NY: Alan R Liss Inc; 1985;:1-63.
2 +
Gatti RA, Good RA.  Occurrence of malignancy in immunodeficiency disease . Cancer . 1971;;28:89-98.
3 +
Painter RB.  Altered DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells . In: Gatti RA, Swift M, eds. Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood . New York, NY: Alan R Liss Inc; 1985;:89-100.
4 +
Swift M, Chase C.  Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes . Lancet . 1983;;1:1049-1050.
5 +
Popp RL, Brown OR, Silverman JF, Harrison DC.  Echocardiographic abnormalities in the mitral valve prolapse syndrome . Circulation . 1979;; 49:428-433.
6 +
Boudoulas H, Wooley CF, eds. Mitral Valve Prolapse and the Mitral Valve Prolapse Syndrome . Mount Kisco, NY: Future Publishing Co Inc; 1988;.
7 +
Levine RA, Triulzi MO, Harrigan PH, Weyman AE.  The relationship of mitral annular shape to the diagnosis of mitral valve prolapse . Circulation . 1987;;75:756-767.
8 +
Marks AR, Choong CY, Sanfilippo AJ, Ferreri M, Weyman AE.  Identification of high-risk and low-risk subgroups of patients with mitral valve prolapse . N Engl J Med. 1989;;320: 1031-1036.
9 +
Miyatake K, Izumi S, Okamoto M.  Semiqualitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler-flow imaging technique . J Am Coll Cardiol. 1986;;7:82-88.
10 +
Dang TY, Gardin JM, Clark S, Allfie A, Henry WL.  Refining the criteria for pulsed Doppler diagnosis of mitral regurgitation by comparison with left ventricular angiography . Am J Cardiol. 1987;;60:633-636.
11 +
Feigenbaum H. Echocardiography . 3rd ed. Philadelphia, Pa: Lea & Febiger; 1981;:550.
12 +
Levy D, Savage D.  Prevalance and clinical features of mitral valve prolapse . Am Heart J. 1987;;113:1281-1290.
13 +
Chandraratna PA, Vlahovich G, Kong Y, Wilson D.  Incidence of mitral valve prolapse in one hundred clinically stable newborn baby girls . Am Heart J. 1979;;98:312-314.
14 +
Procacci PM, Savran MS, Schreiter MS, Bryson AL.  Prevalence of clinical mitral valve prolapse in 1169 young women . N Engl J Med. 1976;;294:1086-1088.
15 +
Udoshi MB, Shah A, Fisher VJ, Dolgin M.  Incidence of mitral valve prolapse in subjects with thoracic skeletal abnormalities: a prospective study . Am Heart J. 1979;;97:303-311.
16 +
Marlow N, Gregg JEM, Qureshi SA.  Mitral valve prolapse in Marfan's syndrome . Arch Dis Child. 1987;;62:960-962.
17 +
Bastianon V, Pasquino AM, Giglioni E, et al.  Mitral valve prolapse in Turner syndrome . Eur J Pediatr. 1989;;148:533-534.
18 +
McReynolds ME, Dabbous MK, Hanissian AS, Duenas D, Kimbrell R.  Abnormal collagen in ataxia telangiectasia . AJDC . 1976;;130:305-307.
19 +
Becker Y, Tabor E, Asher Y.  Ataxia-telangiectasia fibroblasts have less fibronectin mRNA than control cells but have the same level of integrin and actin mRNA . Hum Genet. 1989;; 81:165-170.
20 +
Price WH, Wilson J.  Dissection of the aorta in Turner's syndrome . J Med Genet. 1983;;20: 61-63.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Boder E.  Ataxia-telangiectasia: an overview . In: Gatti RA, Swift M, eds. Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood . New York, NY: Alan R Liss Inc; 1985;:1-63.
2 +
Gatti RA, Good RA.  Occurrence of malignancy in immunodeficiency disease . Cancer . 1971;;28:89-98.
3 +
Painter RB.  Altered DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells . In: Gatti RA, Swift M, eds. Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood . New York, NY: Alan R Liss Inc; 1985;:89-100.
4 +
Swift M, Chase C.  Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes . Lancet . 1983;;1:1049-1050.
5 +
Popp RL, Brown OR, Silverman JF, Harrison DC.  Echocardiographic abnormalities in the mitral valve prolapse syndrome . Circulation . 1979;; 49:428-433.
6 +
Boudoulas H, Wooley CF, eds. Mitral Valve Prolapse and the Mitral Valve Prolapse Syndrome . Mount Kisco, NY: Future Publishing Co Inc; 1988;.
7 +
Levine RA, Triulzi MO, Harrigan PH, Weyman AE.  The relationship of mitral annular shape to the diagnosis of mitral valve prolapse . Circulation . 1987;;75:756-767.
8 +
Marks AR, Choong CY, Sanfilippo AJ, Ferreri M, Weyman AE.  Identification of high-risk and low-risk subgroups of patients with mitral valve prolapse . N Engl J Med. 1989;;320: 1031-1036.
9 +
Miyatake K, Izumi S, Okamoto M.  Semiqualitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler-flow imaging technique . J Am Coll Cardiol. 1986;;7:82-88.
10 +
Dang TY, Gardin JM, Clark S, Allfie A, Henry WL.  Refining the criteria for pulsed Doppler diagnosis of mitral regurgitation by comparison with left ventricular angiography . Am J Cardiol. 1987;;60:633-636.
11 +
Feigenbaum H. Echocardiography . 3rd ed. Philadelphia, Pa: Lea & Febiger; 1981;:550.
12 +
Levy D, Savage D.  Prevalance and clinical features of mitral valve prolapse . Am Heart J. 1987;;113:1281-1290.
13 +
Chandraratna PA, Vlahovich G, Kong Y, Wilson D.  Incidence of mitral valve prolapse in one hundred clinically stable newborn baby girls . Am Heart J. 1979;;98:312-314.
14 +
Procacci PM, Savran MS, Schreiter MS, Bryson AL.  Prevalence of clinical mitral valve prolapse in 1169 young women . N Engl J Med. 1976;;294:1086-1088.
15 +
Udoshi MB, Shah A, Fisher VJ, Dolgin M.  Incidence of mitral valve prolapse in subjects with thoracic skeletal abnormalities: a prospective study . Am Heart J. 1979;;97:303-311.
16 +
Marlow N, Gregg JEM, Qureshi SA.  Mitral valve prolapse in Marfan's syndrome . Arch Dis Child. 1987;;62:960-962.
17 +
Bastianon V, Pasquino AM, Giglioni E, et al.  Mitral valve prolapse in Turner syndrome . Eur J Pediatr. 1989;;148:533-534.
18 +
McReynolds ME, Dabbous MK, Hanissian AS, Duenas D, Kimbrell R.  Abnormal collagen in ataxia telangiectasia . AJDC . 1976;;130:305-307.
19 +
Becker Y, Tabor E, Asher Y.  Ataxia-telangiectasia fibroblasts have less fibronectin mRNA than control cells but have the same level of integrin and actin mRNA . Hum Genet. 1989;; 81:165-170.
20 +
Price WH, Wilson J.  Dissection of the aorta in Turner's syndrome . J Med Genet. 1983;;20: 61-63.

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