Diagnostic Puzzle Tanısal Bilmece
819
Toothache uncovered the biatrial masses Biatriyal kitleyi ortaya çıkaran diş ağrısı A 44-year-old male patient was admitted because of preoperative evaluation before multiple teeth extraction under general anesthesia. His past medical history revealed myxoma excision from left atrium and mass excision from axillary region in which pathology resulted as neurofibroma. Examination was unremarkable except for tumor plop and inguinal cutaneous mass. Electrocardiogram displayed sinus rhythm. Transthoracic echocardiography revealed huge right atrial mass (Fig. 1A) and multiple left atrial masses, originating from interatrial septum (Video 1. See corresponding video/ movie images at www.anakarder.com). Transesophageal echocardiography confirmed right atrial mobile mass (46 x 58 mm) which was prolapsing through the tricuspid valve into the right ventricle (Fig. 1B) and multiple left atrial masses (13x13 mm) (Fig. 1C, Video 2. See corresponding video/movie images at www.anakarder.com). Thoracic computerized tomography revealed multiple bilateral pulmonary emboli, huge right atrial mass and left atrial mass originating from interatrial septum (Fig.1D). Coronary angiography showed normal coronary vessels except anomalous circumflex artery originating from right coronary ostium. Because of the acromegalic A
B
appearance, the patient referred to Endocrinology Unit. Further evaluation of the patient revealed hypophysis macroadenoma, pheochromocytoma, multinodular goiter, inguinal superficial angiomyxoma (Fig. 2A, B) and testicular Sertoli cell tumor (Fig. 2C, D). Initially, cardiac mass excision was performed and thereafter the patient underwent total thyroidectomy, right radial orchiectomy and inguinal mass excision. Pathological examinations of the right and left atrial masses revealed cardiac myxoma in concordance with the preoperative diagnosis. What is your diagnosis? 1. Carney Stratakis syndrome 2. Carney triad 3. Carney syndrome 4. Neurofibromatosis type 1 Video 1. Transthoracic echocardiography showing huge right atrial and multiple small left atrial masses at apical 4-chamber view Video 2. Transesophageal echocardiography confirmed the right and left atrial masses. A
C
C
B
D
D
Figure 1. Transthoracic echocardiography showed huge right atrial mass in apical 4-chamber view (A). Transesophageal echocardiography confirmed huge right atrial (B) and multiple left atrial masses (C). Thoracic computerized tomography also showed biatrial masses (D)
Figure 2. Positron emission tomography-computed tomography (PETCT) revealed mid-pelvic subcutaneous mass with low-grade FDG accumulation (SUV max: 1.8) and 38x22 mm diameter (A) in which pathologic examination showed superficial angiomyxoma (scattered intralesional neutrophils; H & E, x100) (B). Also scrotal sonography resulted as subcutaneous hypoechoic and vascular solid mass with 8x4.5 mm diameter (C) in which pathological examination confirmed the diagnosis of benign large cell calcifying Sertoli cell tumor of testis (tumor cells with significant eosinophilic cytoplasm and extensive calcification; H & E, x400) (D) Answer: p. 823
Address for Correspondence/Yaz›şma Adresi: Dr. Uğur Canpolat, Hacettepe Üniversitesi, Tıp Fakültesi, Kardiyoloji Anabilim Dalı, Sıhhiye 06100, Ankara-Türkiye Phone: +90 312 305 17 80 Fax: +90 312 305 41 37 E-mail: [email protected] Available Online Date/Çevrimiçi Yayın Tarihi: 25.11.2013 ©Telif Hakk› 2013 AVES Yay›nc›l›k Ltd. Şti. - Makale metnine www.anakarder.com web sayfas›ndan ulaş›labilir. ©Copyright 2013 by AVES Yay›nc›l›k Ltd. - Available on-line at www.anakarder.com doi:10.5152/akd.2013.4662
Diagnostic Puzzle - Answer Tanısal Bilmece - Cevap Toothache uncovered the biatrial masses Biatriyal kitleyi ortaya çıkaran diş ağrısı P. 819 Right Answer: 2. Carney syndrome Cardiac mass is defined as an abnormal structure within or neighboring to heart. There are basically 3 subtypes of cardiac masses including tumor, thrombus and vegetations. Although it is not possible in all cases to differentiate these masses from each other, a reasonably secure diagnosis often can be made by integrating the clinical data, echocardiographic appearance and other imaging modalities (1, 2). Primary tumors of the heart are less frequently seen than nonprimary tumors. Also a tumor can only be defined as a benign or malign via pathological examination of tissue. Although 75% of the primary cardiac tumors are benign, they can exert malignant physiological consequences like obstruction in the normal blood flow pattern. Myxomas are the most common primary cardiac tumors in adults. Cardiac myxomas most often are single, arising from the fossa ovalis of the interatrial septum and protruding into the left atrium (in 3/4 of the cases). It can be seen at >1 site in about 5% of cases (3). Due to tumor localization and size, it may protrude into the other cardiac chambers like left or right ventricle through atrioventricular valves in whom tumor “plop” on auscultation may be heard and may guide physicians for further cardiac evaluation. In approximately 7% of cases, myxomas are familial, with most pronounced case being the Carney complex. This syndrome is an autosomal dominant inherited disease, where multiple recurrent myxomas, extracardiac myxomas (breast, skin, testis, thyroid or adrenal gland), Schwannomas, spotty pigmentation of the skin or mucosal surface and endocrine overactivity or endocrine tumors (like pituitary adenomas with gigantism or acromegaly), may coexist (4). In patients with atrial myxomas in the setting of the Carney complex, relapses are frequent, and close follow-up of the patients is essential (5). The Carney complex should be distinguished from other syndromes named with the term "Carney" which may cause confusion. Prominent among them are the Carney-Stratakis syndrome and the Carney triad, neither of which include cardiac tumors (6).
823
Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumors, and paraganglioma. The most of the patients have two of these tumors, the gastric and pulmonary tumors being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma (6). Our patient had no paraganglioma, pulmonary or gastrointestinal tumors which excludes Carney Stratakis syndrome and the Carney triad. Also, the diagnosis of neurofibromatosis type I is based on the presence of several criteria including café-au-lait spots, neurofibromas, axillary or inguinal multiple freckles, ocular and/or orthopedic problems and epilepsy. Due to absence of these diagnostic criteria, neurofibromatosis type I was also excluded in our patient. Our patient was diagnosed as “Carney syndrome” because of the presence of multiple endocrine overactivity and multiple recurrent atrial myxoma. So, careful history taking and cardiac auscultation which were the main components of patient evaluation have helped us for correct diagnosis of the patient. Uğur Canpolat, Hikmet Yorgun, Necla Özer, Kudret Aytemir Department of Cardiology, Faculty of Medicine, Hacettepe University, Ankara-Turkey
References 1.
Narin B, Arman A, Arslan D, Şimşek M, Narin A. Assessment of cardiac masses: magnetic resonance imaging versus transthoracic echocardiography. Anadolu Kardiyol Derg 2010; 10: 69-74. [CrossRef] 2. Auger D, Pressacco J, Marcotte F, Tremblay A, Dore A, Ducharme A. Cardiac masses: an integrative approach using echocardiography and other imaging modalities. Heart 2011; 97: 1101-9. [CrossRef] 3. Paraskevaidis IA, Michalakeas CA, Papadopoulos CH, Anastasiou-Nana M. Cardiac tumors. ISRN Oncol 2011; 2011: 208929. 4. Bireta C, Popov AF, Schotola H, Trethowan B, Friedrich M, El-Mehsen M, et al. Carney-Complex: multiple resections of recurrent cardiac myxoma. J Cardiothorac Surg 2011; 6: 12. [CrossRef] 5. Vidaillet HJ Jr, Seward JB, Fyke FE 3rd, Su WP, Tajik AJ. "Syndrome myxoma": a subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms. Br Heart J 1987; 57: 247-55. [CrossRef] 6. Alrashdi I, Bano G, Maher ER, Hodgson SV. Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Fam Cancer 2010; 9: 443-7. [CrossRef]
Copyright of Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
819
Toothache uncovered the biatrial masses Biatriyal kitleyi ortaya çıkaran diş ağrısı A 44-year-old male patient was admitted because of preoperative evaluation before multiple teeth extraction under general anesthesia. His past medical history revealed myxoma excision from left atrium and mass excision from axillary region in which pathology resulted as neurofibroma. Examination was unremarkable except for tumor plop and inguinal cutaneous mass. Electrocardiogram displayed sinus rhythm. Transthoracic echocardiography revealed huge right atrial mass (Fig. 1A) and multiple left atrial masses, originating from interatrial septum (Video 1. See corresponding video/ movie images at www.anakarder.com). Transesophageal echocardiography confirmed right atrial mobile mass (46 x 58 mm) which was prolapsing through the tricuspid valve into the right ventricle (Fig. 1B) and multiple left atrial masses (13x13 mm) (Fig. 1C, Video 2. See corresponding video/movie images at www.anakarder.com). Thoracic computerized tomography revealed multiple bilateral pulmonary emboli, huge right atrial mass and left atrial mass originating from interatrial septum (Fig.1D). Coronary angiography showed normal coronary vessels except anomalous circumflex artery originating from right coronary ostium. Because of the acromegalic A
B
appearance, the patient referred to Endocrinology Unit. Further evaluation of the patient revealed hypophysis macroadenoma, pheochromocytoma, multinodular goiter, inguinal superficial angiomyxoma (Fig. 2A, B) and testicular Sertoli cell tumor (Fig. 2C, D). Initially, cardiac mass excision was performed and thereafter the patient underwent total thyroidectomy, right radial orchiectomy and inguinal mass excision. Pathological examinations of the right and left atrial masses revealed cardiac myxoma in concordance with the preoperative diagnosis. What is your diagnosis? 1. Carney Stratakis syndrome 2. Carney triad 3. Carney syndrome 4. Neurofibromatosis type 1 Video 1. Transthoracic echocardiography showing huge right atrial and multiple small left atrial masses at apical 4-chamber view Video 2. Transesophageal echocardiography confirmed the right and left atrial masses. A
C
C
B
D
D
Figure 1. Transthoracic echocardiography showed huge right atrial mass in apical 4-chamber view (A). Transesophageal echocardiography confirmed huge right atrial (B) and multiple left atrial masses (C). Thoracic computerized tomography also showed biatrial masses (D)
Figure 2. Positron emission tomography-computed tomography (PETCT) revealed mid-pelvic subcutaneous mass with low-grade FDG accumulation (SUV max: 1.8) and 38x22 mm diameter (A) in which pathologic examination showed superficial angiomyxoma (scattered intralesional neutrophils; H & E, x100) (B). Also scrotal sonography resulted as subcutaneous hypoechoic and vascular solid mass with 8x4.5 mm diameter (C) in which pathological examination confirmed the diagnosis of benign large cell calcifying Sertoli cell tumor of testis (tumor cells with significant eosinophilic cytoplasm and extensive calcification; H & E, x400) (D) Answer: p. 823
Address for Correspondence/Yaz›şma Adresi: Dr. Uğur Canpolat, Hacettepe Üniversitesi, Tıp Fakültesi, Kardiyoloji Anabilim Dalı, Sıhhiye 06100, Ankara-Türkiye Phone: +90 312 305 17 80 Fax: +90 312 305 41 37 E-mail: [email protected] Available Online Date/Çevrimiçi Yayın Tarihi: 25.11.2013 ©Telif Hakk› 2013 AVES Yay›nc›l›k Ltd. Şti. - Makale metnine www.anakarder.com web sayfas›ndan ulaş›labilir. ©Copyright 2013 by AVES Yay›nc›l›k Ltd. - Available on-line at www.anakarder.com doi:10.5152/akd.2013.4662
Diagnostic Puzzle - Answer Tanısal Bilmece - Cevap Toothache uncovered the biatrial masses Biatriyal kitleyi ortaya çıkaran diş ağrısı P. 819 Right Answer: 2. Carney syndrome Cardiac mass is defined as an abnormal structure within or neighboring to heart. There are basically 3 subtypes of cardiac masses including tumor, thrombus and vegetations. Although it is not possible in all cases to differentiate these masses from each other, a reasonably secure diagnosis often can be made by integrating the clinical data, echocardiographic appearance and other imaging modalities (1, 2). Primary tumors of the heart are less frequently seen than nonprimary tumors. Also a tumor can only be defined as a benign or malign via pathological examination of tissue. Although 75% of the primary cardiac tumors are benign, they can exert malignant physiological consequences like obstruction in the normal blood flow pattern. Myxomas are the most common primary cardiac tumors in adults. Cardiac myxomas most often are single, arising from the fossa ovalis of the interatrial septum and protruding into the left atrium (in 3/4 of the cases). It can be seen at >1 site in about 5% of cases (3). Due to tumor localization and size, it may protrude into the other cardiac chambers like left or right ventricle through atrioventricular valves in whom tumor “plop” on auscultation may be heard and may guide physicians for further cardiac evaluation. In approximately 7% of cases, myxomas are familial, with most pronounced case being the Carney complex. This syndrome is an autosomal dominant inherited disease, where multiple recurrent myxomas, extracardiac myxomas (breast, skin, testis, thyroid or adrenal gland), Schwannomas, spotty pigmentation of the skin or mucosal surface and endocrine overactivity or endocrine tumors (like pituitary adenomas with gigantism or acromegaly), may coexist (4). In patients with atrial myxomas in the setting of the Carney complex, relapses are frequent, and close follow-up of the patients is essential (5). The Carney complex should be distinguished from other syndromes named with the term "Carney" which may cause confusion. Prominent among them are the Carney-Stratakis syndrome and the Carney triad, neither of which include cardiac tumors (6).
823
Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumors, and paraganglioma. The most of the patients have two of these tumors, the gastric and pulmonary tumors being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma (6). Our patient had no paraganglioma, pulmonary or gastrointestinal tumors which excludes Carney Stratakis syndrome and the Carney triad. Also, the diagnosis of neurofibromatosis type I is based on the presence of several criteria including café-au-lait spots, neurofibromas, axillary or inguinal multiple freckles, ocular and/or orthopedic problems and epilepsy. Due to absence of these diagnostic criteria, neurofibromatosis type I was also excluded in our patient. Our patient was diagnosed as “Carney syndrome” because of the presence of multiple endocrine overactivity and multiple recurrent atrial myxoma. So, careful history taking and cardiac auscultation which were the main components of patient evaluation have helped us for correct diagnosis of the patient. Uğur Canpolat, Hikmet Yorgun, Necla Özer, Kudret Aytemir Department of Cardiology, Faculty of Medicine, Hacettepe University, Ankara-Turkey
References 1.
Narin B, Arman A, Arslan D, Şimşek M, Narin A. Assessment of cardiac masses: magnetic resonance imaging versus transthoracic echocardiography. Anadolu Kardiyol Derg 2010; 10: 69-74. [CrossRef] 2. Auger D, Pressacco J, Marcotte F, Tremblay A, Dore A, Ducharme A. Cardiac masses: an integrative approach using echocardiography and other imaging modalities. Heart 2011; 97: 1101-9. [CrossRef] 3. Paraskevaidis IA, Michalakeas CA, Papadopoulos CH, Anastasiou-Nana M. Cardiac tumors. ISRN Oncol 2011; 2011: 208929. 4. Bireta C, Popov AF, Schotola H, Trethowan B, Friedrich M, El-Mehsen M, et al. Carney-Complex: multiple resections of recurrent cardiac myxoma. J Cardiothorac Surg 2011; 6: 12. [CrossRef] 5. Vidaillet HJ Jr, Seward JB, Fyke FE 3rd, Su WP, Tajik AJ. "Syndrome myxoma": a subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms. Br Heart J 1987; 57: 247-55. [CrossRef] 6. Alrashdi I, Bano G, Maher ER, Hodgson SV. Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Fam Cancer 2010; 9: 443-7. [CrossRef]
Copyright of Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
