European Journal of Echocardiography 2005 6(2):148-150; doi:10.1016/j.euje.2004.07.010
Copyright © 2005, The European Society of Cardiology
Multicentric familial cardiac myxoma
Z. Akbarzadeh,
M. Esmailzadeh*,
A. Yousefi,
A. Safaei,
K. Raisi and
F. Sharifi
Shahid Rajaee Cardiovascular Center, Tehran, Iran
Abbreviations LA left atrium LV left ventricle MV mitral valve IAS interatrial septum RV right ventricle NSR normal sinus rhythm MR mitral regurgitation
Received 21 June 2004; accepted after revision 30 July 2004.
* Corresponding author. meszadeh{at}rhc.ac.ir
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Abstract
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Familial cardiac myxoma is a rare syndrome which constitutes
approximately 10% or less of all myxomas. We describe a rare
case of LA and LV mass simultaneously in a 35-year-old female
presenting to our hospital for evaluation of recurrent cardiac
myxoma. Echocardiography revealed both LA and LV mass. Surgery
was done and histological findings confirmed the diagnosis of
myxoma.
Keywords: Myxoma; Echocardiography; Carney's syndrome
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Case report
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A 35-year-old woman was referred to our echo-lab for the evaluation
of dyspnea. She had a previous history of two cardiac surgery
due to confirmed LA myxoma. She had suffered from dyspnea on
exertion for one month and transient paresis of the left hand
3 days before admission. She explained some transient tender
palmar and plantar maculas with spontaneous resolution. She
had a history of CVA and right hemiplegia with flexure contracture
of distal part of the right hand 18 years ago (at the time of
the first surgery). Second cardiac surgery was done 2 years
ago when transient cutaneous symptoms and dyspnea occurred as
a result of recurrent myxoma. The family history reads interesting
in as much as her mother (57-year-old) had a history of cardiac
surgery (4 years ago) because of confirmed LA myxoma. Her brother
(33-year-old) also had a history of cardiac surgery twice for
confirmed LA myxoma about 9 years and then 1 year before. The
patient's physical examination on presentation revealed: BP=130/80,
HR=78bpm, RR=14/min, normal jugular venous pressure. There were
facial freckling and a dark macula (2
x3mm) on right buccal mucosa,
two skin tags were seen on her body. S1 and S2 were normal with
S4 gallope. Lung and abdominal exams were normal. Right hand
paralysis with flexure contracture was seen as a sequel following
her first presentation. While there was right foot paresia,
other extremities were normal. ECG showed NSR-normal axis and
no significant pathologic change. Lab test showed mild hypochromic
anemia with increased ESR in first test: Hb=9.5mg/dL, HCT=35%,
RBC=4 700 000, MCH=20, MCV=75, MCHC=27, ESR=36, IRON=23(N),
TIBC=88 (increased), FERRITIN=28(N), other lab tests were normal.
Chest X-ray was within normal limits.
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Echocardiographic findings
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While the findings demonstrated normal LV size and function,
there was a large semi mobile mass (1/9
x1.4cm) in LV cavity
which was attached to anterolateral papillary muscle. RV size
was mildly enlarged with normal function. Mitral valve had mild
MR. There were two clusters of mobile masses in LA. The larger
one (3
x2cm) was highly mobile and was attached to the fossa
ovalis by a narrow stalk. The smaller one (1/8
x1cm) was partially
mobile which was attached to the anterior MV leaflet's base.
Neither of them was prolapsing to the LV. Other cardiac structures
were normal (
Figs. 1 and 2
).
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Operative findings
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A jelly-like LA mass was seen with attachment to the interatrial
septum by a pedicle and a cluster of mass attached without a
pedicle to the anterior mitral leaflet. LV evaluation revealed
there were two jelly-like masses with attachment to the anterior
papillary muscle without pedicle.
Pathologic findings
Gross. The specimen consisted of multiple irregular fragments of creamy-brown, soft to firm and gelatinous tissue (3x3x1cm) in aggregate. Gross foci of hemorrhage were detected.
Microscopy. There were both hypocellular tumor tissue with a myxoid background. There were some isolated spindle and satellite cells which formed vessel-like structures and groups of cells in some areas. No mitosis or pleomorphism was observed (Fig. 3).
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Discussion
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Familial cardiac myxomas appear to have an autosomal dominant
transmission.
1,2 Syndrome myxoma or Carney's syndrome also consists
of myxomas in other locations (breast or skin), spotty pigmentation
(lentigines, pigmented nevi or both), and endocrine overactivity
(pituitary adenoma primary pigmented nodular adrenocortical
disease, or testicular tumors involving the endocrine components
3–6).
Patients with Carney's syndrome tend to be younger (mean age
20), are more likely to have myxomas in locations other than
the left atrium, they sometimes have bilateral tumors and are
more likely to develop recurrences. Although the cause of the
syndrome myxoma is unknown, it has been proposed to result from
a widespread abnormality resulting in excessive proliferation
of certain mesenchymal cells, and excessive glycosaminoglycans
production by them, possibly analogous to the neural masses
in Von Recklinghausen's neurofibromatosis.
7 Patients may have
two or more components of this complex and the first component
generally is diagnosed at a relatively young age (mean age 18
years); some patients have been said to have the NAME syndrome
(nevi, atrial myxoma, myxoid neurofibroma ephelides)
2,8 or the
LAMB syndrome (lentigines, atrial myxoma and blue nevi).
9,10 In patients who have a familial history or other components
of the previously described syndrome and who are undergoing
resection, a careful search should be made preoperatively for
several cardiac myxomas. Postoperatively these patients should
be observed closely for the development of other tumors.
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References
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- Carney J.A., Hruska L.S., Beauchamp G.D., Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity. Mayo Clin Pro (1986) 61:165.[Web of Science][Medline]
- Koopman R.G., Happle R. Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity). Hum Genet (1991) 86:300.[Web of Science][Medline]
- Carney J.A., Gordon J., Carpenter P.C., et al. The complex of myxoma, spotty pigmentation and endocrine overactivity. Medicine (1985) 64:270.[Medline]
- Bennet W.S., Skelton T.N., Lehan P.H. The complex of myxomas, pigmentation and endocrine overactivity. Medicine (1990) 65:399.
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- Watson J.C., Stratakis C.A., Bryant-Greenwood P.K., et al. Neurosurgical implications of Carney complex. Neurosurg (2000) 92:413–418.
- Carney J.A., Benas C.T. Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. Am J Surg Pathol (1991) 15:713.[Web of Science][Medline]
- Vidaillet H.J. Jr., Seward J.B., Fykle E., Tajik A.J. NAME syndrome (neviatrial myxoma, myxoid neurofibromatosis, epheliedes): a new and unrecognized sunset of patients with cardiac myxoma. Minn Med (1984) 67:695.[Medline]
- Rhodes A.R., Silverman R.A., Harrist T.J., Perez-Atayde A.R. Mucocutaneous lentiginies, cardiomucocutaneous myxoma, and multiple blue nevi: the LAMB syndrome. J Am Acad Dermatol (1984) 10:72.[Web of Science][Medline]
- Braunwald. Heart disease, textbook of cardiovascular medicine. (2001) p. 1811–2.
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