Noonan syndrome natural history, complications and prognosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Noonan syndrome}} | {{Noonan syndrome}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} [[User:Sergekorjian|Serge Korjian]], [[User:YazanDaaboul|Yazan Daaboul]] | ||
==Overview== | ==Overview== | ||
Patients with Noonan syndrome have a constellation of complications associated with the disorder. Significant cardiac complications may arise secondary to pulmonary valve stenosis or HCM the two most common cardiac manifestations. Other complications include increased risk for developing malignancy, bleeding, short stature, hearing loss, poor feeding, and some form of developmental or intellectual insufficiency. | |||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
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During the study interval, 10 patients died, three of which were secondary to hypertrophic cardiomyopathy. In total, 19% of patients had hypertrophic cardiomyopathy. Other cardiac anomalies included pulmonary stenosis in 65% of patients half of which required intervention. No patients died secondary to arrhythmias. The overall mortality rate was approximately 9%, with age of death ranging from a 4 months to 61 years.<ref name="pmid16990350">{{cite journal|author=Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA| title=The natural history of Noonan syndrome: a long-term follow-up study. | journal=Arch Dis Child| year= 2007 | volume= 92 | issue= 2 | pages= 128-32 | pmid=16990350 | doi=10.1136/adc.2006.104547 | pmc=PMC2083343 |url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16990350 }} </ref> In general, adults with Noonan syndrome required close cardiac follow-up as on third of them had an ongoing cardiac problem requiring either medical treatment, defibrillation, or pacemaker placement. Markers of good prognosis included normal cardiac output at rest, peak right ventricular pressure of <100 mm Hg, normal pulmonary artery pressure, and absence of symptoms.<ref name="pmid23165751">{{cite journal| author=Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE| title=Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. | journal=Am J Med Genet A | year= 2012 | volume= 158A | issue= 12 |pages= 3106-11 | pmid=23165751 | doi=10.1002/ajmg.a.35639 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23165751 }} </ref><ref name="pmid16990350">{{cite journal|author=Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA| title=The natural history of Noonan syndrome: a long-term follow-up study. | journal=Arch Dis Child| year= 2007 | volume= 92 | issue= 2 | pages= 128-32 | pmid=16990350 | doi=10.1136/adc.2006.104547 | pmc=PMC2083343 |url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16990350 }} </ref> | During the study interval, 10 patients died, three of which were secondary to [[hypertrophic cardiomyopathy]]. In total, 19% of patients had hypertrophic cardiomyopathy. Other cardiac anomalies included [[pulmonary stenosis]] in 65% of patients half of which required intervention. No patients died secondary to [[arrhythmias]]. The overall mortality rate was approximately 9%, with age of death ranging from a 4 months to 61 years.<ref name="pmid16990350">{{cite journal|author=Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA| title=The natural history of Noonan syndrome: a long-term follow-up study. | journal=Arch Dis Child| year= 2007 | volume= 92 | issue= 2 | pages= 128-32 | pmid=16990350 | doi=10.1136/adc.2006.104547 | pmc=PMC2083343 |url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16990350 }} </ref> In general, adults with Noonan syndrome required close cardiac follow-up as on third of them had an ongoing cardiac problem requiring either medical treatment, [[Defibrillator|defibrillation]], or [[pacemaker]] placement. Markers of good prognosis included normal [[cardiac output]] at rest, peak right ventricular pressure of <100 mm Hg, normal [[pulmonary artery pressure]], and absence of symptoms.<ref name="pmid23165751">{{cite journal| author=Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE| title=Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. | journal=Am J Med Genet A | year= 2012 | volume= 158A | issue= 12 |pages= 3106-11 | pmid=23165751 | doi=10.1002/ajmg.a.35639 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23165751 }} </ref><ref name="pmid16990350">{{cite journal|author=Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA| title=The natural history of Noonan syndrome: a long-term follow-up study. | journal=Arch Dis Child| year= 2007 | volume= 92 | issue= 2 | pages= 128-32 | pmid=16990350 | doi=10.1136/adc.2006.104547 | pmc=PMC2083343 |url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16990350 }} </ref> | ||
====Cardiac Complications==== | ====Cardiac Complications==== | ||
'''Below is a list of the most common cardiac complications of Noonan syndrome:'''<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }}</ref> | '''Below is a list of the most common cardiac complications of Noonan syndrome:'''<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }}</ref> | ||
* | * [[Right ventricular outflow tract obstruction]] | ||
* [[Hypertrophic cardiomyopathy]] | |||
* Hypertrophic | * [[Dilated cardiomyopathy]] evolving from hypertrophic cardiomyopathy | ||
* Dilated cardiomyopathy evolving from hypertrophic cardiomyopathy | * [[Restrictive cardiomyopathy]] | ||
* Restrictive cardiomyopathy | * [[Aortic insufficiency]] | ||
* Aortic insufficiency | |||
* Aortic root dilation | * Aortic root dilation | ||
* Aortic dissection | * [[Aortic dissection]] | ||
* Giant aneurysm of the sinuses of Valsalva | * Giant aneurysm of the [[sinuses of Valsalva]] | ||
* Constrictive pericarditis | * [[Constrictive pericarditis]] | ||
* Idiopathic pulmonary hypertension | * [[Idiopathic pulmonary hypertension]] | ||
====Oncologic Complications==== | |||
'''Patients with Noonan syndrome are at an increased risk for the development of hematologic and solid malignancies:'''<ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref> | |||
* Juvenile myelomonocytic leukemia | |||
* Acute myelogenous leukemia | |||
* B-cell acute lymphoblastic leukemia | |||
* Embryonal rhabdomyosarcoma | |||
* Granular cell tumors | |||
* Pilocytic astrocytoma | |||
* Sertoli cell tumor | |||
* Malignant mastocytosis | |||
* Malignant epithelioid angiosarcoma | |||
====Developmental Complications==== | |||
Although most patients with Noonan syndrome have normal intelligence compared to the general population, studies have reported that the prevalence of intellectual impairment is slightly more elevated in this group. Studies have suggested that patients may require some form of special learning aid. Other reported developmental complications include mood disturbances, social and communication problems, reading and spelling difficulties, and short-term memory impairment. <ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref> | |||
==References== | ==References== | ||
Latest revision as of 01:48, 15 November 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul
Overview
Patients with Noonan syndrome have a constellation of complications associated with the disorder. Significant cardiac complications may arise secondary to pulmonary valve stenosis or HCM the two most common cardiac manifestations. Other complications include increased risk for developing malignancy, bleeding, short stature, hearing loss, poor feeding, and some form of developmental or intellectual insufficiency.
Natural History, Complications and Prognosis
What is known about the natural history of Noonan syndrome is based on limited long-term follow-up studies. The most important study on the clinical course of Noonan sydrome comes from Shaw et al. who studied 112 patients with clinical or genetic diagnosis of Noonan syndrome with a mean follow-up of 12 years.[1] Patients with documented feeding difficulties during infancy were found to have poorer outcomes. Those with feeding problems had a mean age of speaking in two-word phrases of 39 months, compared with 26 months in patients with no feeding difficulties. Furthermore, whereas only 12.5% of patients with no problems feeding required attendance at a school for children with special needs, 58% of patients with feeding problems required the same care. In general, special academic assistance was needed in 44% of patients, although academic achievement was comparable to the general population. The average adult height was 167.4 cm in males and 152.7 cm in females.[1]
During the study interval, 10 patients died, three of which were secondary to hypertrophic cardiomyopathy. In total, 19% of patients had hypertrophic cardiomyopathy. Other cardiac anomalies included pulmonary stenosis in 65% of patients half of which required intervention. No patients died secondary to arrhythmias. The overall mortality rate was approximately 9%, with age of death ranging from a 4 months to 61 years.[1] In general, adults with Noonan syndrome required close cardiac follow-up as on third of them had an ongoing cardiac problem requiring either medical treatment, defibrillation, or pacemaker placement. Markers of good prognosis included normal cardiac output at rest, peak right ventricular pressure of <100 mm Hg, normal pulmonary artery pressure, and absence of symptoms.[2][1]
Cardiac Complications
Below is a list of the most common cardiac complications of Noonan syndrome:[3]
- Right ventricular outflow tract obstruction
- Hypertrophic cardiomyopathy
- Dilated cardiomyopathy evolving from hypertrophic cardiomyopathy
- Restrictive cardiomyopathy
- Aortic insufficiency
- Aortic root dilation
- Aortic dissection
- Giant aneurysm of the sinuses of Valsalva
- Constrictive pericarditis
- Idiopathic pulmonary hypertension
Oncologic Complications
Patients with Noonan syndrome are at an increased risk for the development of hematologic and solid malignancies:[3]
- Juvenile myelomonocytic leukemia
- Acute myelogenous leukemia
- B-cell acute lymphoblastic leukemia
- Embryonal rhabdomyosarcoma
- Granular cell tumors
- Pilocytic astrocytoma
- Sertoli cell tumor
- Malignant mastocytosis
- Malignant epithelioid angiosarcoma
Developmental Complications
Although most patients with Noonan syndrome have normal intelligence compared to the general population, studies have reported that the prevalence of intellectual impairment is slightly more elevated in this group. Studies have suggested that patients may require some form of special learning aid. Other reported developmental complications include mood disturbances, social and communication problems, reading and spelling difficulties, and short-term memory impairment. [3]
References
- ↑ 1.0 1.1 1.2 1.3 Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA (2007). "The natural history of Noonan syndrome: a long-term follow-up study". Arch Dis Child. 92 (2): 128–32. doi:10.1136/adc.2006.104547. PMC 2083343. PMID 16990350.
- ↑ Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE (2012). "Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome". Am J Med Genet A. 158A (12): 3106–11. doi:10.1002/ajmg.a.35639. PMID 23165751.
- ↑ 3.0 3.1 3.2 Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). "Noonan syndrome". Lancet. 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.
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