CASE REPORTS
superior parietal pericardium into the superior mediastinum (Figure 2). The lungs were hypoplastic, but normally lobed. Bilateralpleural efTal Geva, MD, Stella Van Praagh, MD, and Richard Van Praagh, MD fusions werepresent. The apex of the naked heart was cephalically oriented (Figure 1). The segmental orgactopia cordis is a rare congenital troschisis,with no remnant ofperitoanomaly in which the heart is neal covering. The heart herniated nization of the heart was normal partially or totally outside the tho- through the cephalic portion of the {S,D,S)’ with normal alignments and gastroschisis (Figure 1). The ster- connections. The subpulmonary inrax.’ The thoracic and thoracoabdominal forms of ectopia cordis have num was intact except for absenceof fundibulum was atretic immediately the xiphoid process. The pleural below the pulmonary valve (Figure been considered to constitute together 97% (138 of 142) of the cases.2 cavities were totally separatedfrom 2) with the ventricular septum being The cervical form, found in 4 out of the mediastinum by the confluence intact. The pulmonary valve an&us 142 cases,has been described only in of the muscular components of the was hypoplastic but all 3 commismalformed fetuses.2 Complete ab- diaphragm laterally and the superi- sureswerepresent and the valve was patent (Figure 2). The right ventrior portion of the parietal pericardidominal ectopia cordis was thought previously to be represented only by um medially (Figure 2). The central cle was small-chambered and thickDeschamp’s case that was reported fibrous portion of the diaphragm walled with severe endocardial fibroelastosis.Additional findings inwas absent. The superior parietal in 1806 by Cullerierq3 However, pericardium arched up to the peri- cluded a patent foramen ovale, patwhether or not complete abdominal ectopia cordis really exists and, if so, cardial reflections of the great arter- ent ductus arteriosus and bilateral how it should be defined, remain un- ies and the superior vena cava. The atresia of the renal arteries. Chroclear. We present a unique case of pleural cavities were isolated from mosomat analysis was normal. ectopia cordis that superficially re- the mediastinal and the abdominal Did our case and Deschamp’s sembles complete abdominal ectopia cavities by the superior parietal peri- case really have complete abdominal cardium. The superior vena cava, ectopia cordis? We think that the ancordis. This patient has the following main pulmonary artery, aorta and swer is no. In our case, the central previously undescribed cardiac anomaly: isolated atresia of the sub- pulmonary veins passedthrough the tendon of the diaphragm, which is
Thoracoabdominal Isolated lnfundibular
Ectopia Cordis Atresia
with
E
pulmonary infundibulum with an intact ventricular septum and a wellformed and patent pulmonary valve. A 1,483 g white male infant was born at 34-weeksgestation to a 24year-old, gravida I, para 0 woman. At 32”weeksgestation, afetal ultrasoundstudy wasperformedfor evaluation of polyhydramnios. A large ventral abdominal wall defect was shown with herniation of the heart and the abdominal viscera into the amniotic cavity. Two weeks later, the patient was born by vaginal delivery after premature onset of uterine contractions and rupture of the membranes. The patient died 5 hours after birth. At autopsy, there was a large right paramedian gastroschisis extending from the right paraumbilical area inferiorly to immediately below the right costal margin superiorly (Figure I). The liver, stomach, spleen,small bowel, large bowel and pancreas,herniated through the gasFrom the Departments OF Pathology and Cardiology, Harvard Medical School, and The Children’s Hospital, Boston, Massachusetts. Manuscript received April 12, 1990; revised manuscript received and accepted May 29, 1990.
E 8. Thoracoabdominai eciopia cordis and gastroschisis. s c~~~alica~iy toward the left shoulder. LA = left atrium; = right atrial appendage; RV = right ventricle.
THE AMERICAN
JOURNAL
OF CARDIOLOGY
The cardiac LV = left ventricle;
OCTOBER
1, 1990
FIGURE 2. Frontal and inferior view of the heart and the thoracoabdominal communication. The thoracic and abdominal cavities are separated by the muscular diaphragm lateralty (Diaph), which is confluent with the superior parietal pericardium, medially (Peric). The right ventricle is thick-walled and small-chambered with severe endocardial fibroelastosis. Note atresia of the subpulmonary infundibulum (lnf). Upper right corner, opened main pulmonary artery showing patent pulmonary valve (PV). Ao = aorta; CW = chest wal; SVC = superior vena cava; other abbreviations as in figure 1.
derived from the septum transversum of the embryo,4,5 was totally absent. Hence, a huge diaphragmatic defect was present. The confluence of the muscular leaves of the diaphragm laterally with the parietal pericardium medially, initially produced the erroneous impression that the diaphragm was intact. In fact, our case is an extreme form of the Cantrell syndrome5 with free communication between the mediastinum and the abdominal cavity, that is, thoracoabdominal ectopia cordis. Our case is different from the classic Cantrell syndrome because the sternum was only minimally involved with absence of the xiphoid process. Gastroschisis is another unique feature of our case. Most previously re-
892
THE AMERICAN
JOURNAL
ported casesof thoracoabdominal ectopia cordis have had either a ventral hernia or an omphalocele.4 Deschamp’s case’ was a previously healthy French soldier who died of pyelonephritis. At autopsy, the left kidney was absent and in its place was the heart within its pericardial sac. Although we previously considered this case to be the only documented example of complete abdominal ectopia cordis,’ after careful revaluation it became apparent that this was a case of inferior diaphragmatic eventration. The diaphragm was intact and markedly displaced inferiorly and the heart communicated only with the thoracic cavity. Hence, to the best of our knowledge, a genuine case of complete abdomi-
OF CARDIOLOGY
VOLUME
66
nal ectopia cordis has not been documented in which the heart is positioned below an intact diaphragm and is separated completely from the thoracic cavity. We strongly suspect that the abdominal form of ectopia cordis, defined strictly (as above), does not exist. We therefore propose that the abdominal form be deleted from the classification of ectopia cordis. l The most common forms of congenital heart disease associated with ectopia cordis are tetralogy of Fallot and ventricular septal defect.1 Rarely, ectopia cordis can occur with a structurally normal heart. Isolated atresia of the subpulmonary infundibulum with a patent and structurally normal pulmonary valve is docu-
mented here for the first time (Figure 2).
Could external compression produce atresia of the subpulmonary infundibulum? The human embryo is flexed ventrally during the first 3 weeks after ovulation. At approximately 23 days of gestation, the developing heart descends from the neck into the thorax, which is still widely patent (complete thoracic ectopia cordis and omphalocele normal at this stage).’ During the subsequent 11 to 15 days (until 34 to 36 days of gestation), the rapidly developing embryonic head is ventrally flexed, resulting in cephalocardiac approximation.’ Normally, at about 37 to 38 days of gestation, the embryo starts to straighten out and the heart fits into the developing chest. The semilunar valves and the truncal septum complete their development during Streeter’s horizon XVII, that is, 34 to 36 days of gestation. Ap-
Primary Sarcoma Mitral Stenosis
proximately during that period, the medial migration and fusion of the paramedian mesenchymal somites normally results in the formation of an intact thoracic and abdominal ventral wa11.4$6The aforementioned embryologic observations suggest the hypothesis that failure of abdominal wall fusion, associated with a defect in or absence of septum transversum, may allow herniation of the heart into the amniotic cavity through these defects. Extrinsic compression of the ectopic and “unprotected” heart may result in the unique anomaly displayed by our patient, isolated infundibular atresia. Another form of mechanical teratogenesis by amniotic band(s) was described by Kaplan et al6 Because there was no evidence of amniotic sac rupture with amniotic band formation in our case, absence of the septum transversum component of the diaphragm and failure of fusion of
of the Heart
Causing
Michael J. Domanski, MD, Thomas F. Delaney, MD, David E. Kleiner, Jr., MD, Mary Goswitz, MD, Arthur Agatston, MD, Eben Tucker, MD, Michael Johnson, MD, and William C. Roberts, MD ly. In September 1989, she developed orthopnea, dyspnea with walking, syncope and easyfatigability. In Such was the case, however, in the October 1989, examination by a carpatient to be described herein. diologist discloseda loudfirst heart A 46year-old woman (CC no. sound, a grade l/6 systolic ejection 22-72-58-I) who died on January 7, murmur at the left sternal border 1990, had beenwell until April 1989, and apex that radiated into the axilwhenshehad an episodeof dizziness la and a grade 2/6 systolic murmur and right eye blindnessthat resolved at the right sternal border that inspontaneously. In June 1989, she creased with inspiration. Chest radiograph suggested a dilated left had a transient episode of right lower arm numbnessand right eye atrium and was consistent with conblindnessthat resolvedspontaneous- gestive heart failure. An echocardiogram disclosed severe mitral stenosis, mild mitral regurgitation, a From the Cardiology and Pathology Branches, National Heart, Lung, and Blood dilated right atrium and right venInstitute, the Radiation-Oncology Branch and tricle, pericardial effusion and a Laboratory of Pathology, National Cancer Inlarge massin the region of the postestitute, Bethesda, Maryland; the Division of rior mitral leaflet protruding into Cardiologv. Georgetown University Hospital, Washington, L3.C: the Division of eardioiogy, and obstructing the mitral orifice Mount Sinai Medical Center, Miami, Florida; (Figure 1). Cardiac catheterization and the National Institutes of Health, Buildrevealed the following pressures (in ing 10, Room 7Bl5, Bethesda, Maryland mm Hg): right atria1 mean, 20; right 20892. Manuscript received and accepted ventricular, 105/18; pulmonary arMay 241990.
ardiac sarcomas are rare and mitral stenosis caused by this neoC plasm in the left atrium is even rarer.
Y_
THE AMERICAN
JOURNAL
diaphragm and failure of fusion of the abdominal wall appear to be the main morphogenetic mechanisms leading to extreme thoracoabdominal ectopia cordis in our patient. 1. Van Praaeh R. Weinbera PM. Smith SD. Foran RB, Van Priagh’ S. Malp&ition of the heart. In: Adams FH, Emmanouilides CC, Riemenschneider TA, eds. Moss’ HeartDisease in Infants, Children, and Adolescents. 4th ed. Baltimore: Willinrm & Wilkins, 1989:530-580. 2. Scott GW. Ectopia cordis: report of a case successfully treated by operation. Guys Hospital Rep 1955; ID4:55-S7. 3. Cullerier. Observation sur un deplacement remarquable du coeur; par M. Dcschamps, medicin a Laml. J Gen de Medicine, de Chirurgie ef de Phormatie 1806;26:275-279. 4. Ravitch MM. Congenital deformities of the chest wall and their operative correction. Philadelphia: WB Saunders, 1977:1-77. 5. Cantrell JR, Hailer J.4, Rawtch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gym and Obstet /958;107:602-6 14. 6. Kaplan LC, Matsuoka R, Gilbert EF, Opitz JM, Kurnit DM. Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet 1985;21:187-202.
tery wedgemean, 35; left ventricular, 125/l 8; and aortic, 125/80. The pulmonary artery wedge-left ventricular mean diastolic gradient was 20 mm Hg. The left ventricle contracted normally. By angiography, neither mitral nor aortic valve regurgitation was present and the epicardial coronary arteries were normal, Thoracotomy was performed and a “‘lemon”-sized mass involving the basal portion of the left ventricular wail was found. Computed tomography after operation localized the massto the region of the ‘posterior mitral leaflet. Electrocardiogram showed changes of right ventricular hypertrophy, incomplete right bundle branch block and left atria1 abnormality. Echocardiogram showed a large massin the region of the mitral valve and it extended into the left atrium and left ventricle. By Doppler, the estimated mean mitral pressure gradient was 18 mm Hg. Magnetic resonance imaging (Figure 2) confirmed these findings. The patient received radiation therapy, bu6 died suddenly. At necropsy (A90-2), the heart with the neoplasm weighed 530 g. The visceral and parietal pericardia
OF CARDIOLOGY
OCTOBER
1, 1990
superior parietal pericardium into the superior mediastinum (Figure 2). The lungs were hypoplastic, but normally lobed. Bilateralpleural efTal Geva, MD, Stella Van Praagh, MD, and Richard Van Praagh, MD fusions werepresent. The apex of the naked heart was cephalically oriented (Figure 1). The segmental orgactopia cordis is a rare congenital troschisis,with no remnant ofperitoanomaly in which the heart is neal covering. The heart herniated nization of the heart was normal partially or totally outside the tho- through the cephalic portion of the {S,D,S)’ with normal alignments and gastroschisis (Figure 1). The ster- connections. The subpulmonary inrax.’ The thoracic and thoracoabdominal forms of ectopia cordis have num was intact except for absenceof fundibulum was atretic immediately the xiphoid process. The pleural below the pulmonary valve (Figure been considered to constitute together 97% (138 of 142) of the cases.2 cavities were totally separatedfrom 2) with the ventricular septum being The cervical form, found in 4 out of the mediastinum by the confluence intact. The pulmonary valve an&us 142 cases,has been described only in of the muscular components of the was hypoplastic but all 3 commismalformed fetuses.2 Complete ab- diaphragm laterally and the superi- sureswerepresent and the valve was patent (Figure 2). The right ventrior portion of the parietal pericardidominal ectopia cordis was thought previously to be represented only by um medially (Figure 2). The central cle was small-chambered and thickDeschamp’s case that was reported fibrous portion of the diaphragm walled with severe endocardial fibroelastosis.Additional findings inwas absent. The superior parietal in 1806 by Cullerierq3 However, pericardium arched up to the peri- cluded a patent foramen ovale, patwhether or not complete abdominal ectopia cordis really exists and, if so, cardial reflections of the great arter- ent ductus arteriosus and bilateral how it should be defined, remain un- ies and the superior vena cava. The atresia of the renal arteries. Chroclear. We present a unique case of pleural cavities were isolated from mosomat analysis was normal. ectopia cordis that superficially re- the mediastinal and the abdominal Did our case and Deschamp’s sembles complete abdominal ectopia cavities by the superior parietal peri- case really have complete abdominal cardium. The superior vena cava, ectopia cordis? We think that the ancordis. This patient has the following main pulmonary artery, aorta and swer is no. In our case, the central previously undescribed cardiac anomaly: isolated atresia of the sub- pulmonary veins passedthrough the tendon of the diaphragm, which is
Thoracoabdominal Isolated lnfundibular
Ectopia Cordis Atresia
with
E
pulmonary infundibulum with an intact ventricular septum and a wellformed and patent pulmonary valve. A 1,483 g white male infant was born at 34-weeksgestation to a 24year-old, gravida I, para 0 woman. At 32”weeksgestation, afetal ultrasoundstudy wasperformedfor evaluation of polyhydramnios. A large ventral abdominal wall defect was shown with herniation of the heart and the abdominal viscera into the amniotic cavity. Two weeks later, the patient was born by vaginal delivery after premature onset of uterine contractions and rupture of the membranes. The patient died 5 hours after birth. At autopsy, there was a large right paramedian gastroschisis extending from the right paraumbilical area inferiorly to immediately below the right costal margin superiorly (Figure I). The liver, stomach, spleen,small bowel, large bowel and pancreas,herniated through the gasFrom the Departments OF Pathology and Cardiology, Harvard Medical School, and The Children’s Hospital, Boston, Massachusetts. Manuscript received April 12, 1990; revised manuscript received and accepted May 29, 1990.
E 8. Thoracoabdominai eciopia cordis and gastroschisis. s c~~~alica~iy toward the left shoulder. LA = left atrium; = right atrial appendage; RV = right ventricle.
THE AMERICAN
JOURNAL
OF CARDIOLOGY
The cardiac LV = left ventricle;
OCTOBER
1, 1990
FIGURE 2. Frontal and inferior view of the heart and the thoracoabdominal communication. The thoracic and abdominal cavities are separated by the muscular diaphragm lateralty (Diaph), which is confluent with the superior parietal pericardium, medially (Peric). The right ventricle is thick-walled and small-chambered with severe endocardial fibroelastosis. Note atresia of the subpulmonary infundibulum (lnf). Upper right corner, opened main pulmonary artery showing patent pulmonary valve (PV). Ao = aorta; CW = chest wal; SVC = superior vena cava; other abbreviations as in figure 1.
derived from the septum transversum of the embryo,4,5 was totally absent. Hence, a huge diaphragmatic defect was present. The confluence of the muscular leaves of the diaphragm laterally with the parietal pericardium medially, initially produced the erroneous impression that the diaphragm was intact. In fact, our case is an extreme form of the Cantrell syndrome5 with free communication between the mediastinum and the abdominal cavity, that is, thoracoabdominal ectopia cordis. Our case is different from the classic Cantrell syndrome because the sternum was only minimally involved with absence of the xiphoid process. Gastroschisis is another unique feature of our case. Most previously re-
892
THE AMERICAN
JOURNAL
ported casesof thoracoabdominal ectopia cordis have had either a ventral hernia or an omphalocele.4 Deschamp’s case’ was a previously healthy French soldier who died of pyelonephritis. At autopsy, the left kidney was absent and in its place was the heart within its pericardial sac. Although we previously considered this case to be the only documented example of complete abdominal ectopia cordis,’ after careful revaluation it became apparent that this was a case of inferior diaphragmatic eventration. The diaphragm was intact and markedly displaced inferiorly and the heart communicated only with the thoracic cavity. Hence, to the best of our knowledge, a genuine case of complete abdomi-
OF CARDIOLOGY
VOLUME
66
nal ectopia cordis has not been documented in which the heart is positioned below an intact diaphragm and is separated completely from the thoracic cavity. We strongly suspect that the abdominal form of ectopia cordis, defined strictly (as above), does not exist. We therefore propose that the abdominal form be deleted from the classification of ectopia cordis. l The most common forms of congenital heart disease associated with ectopia cordis are tetralogy of Fallot and ventricular septal defect.1 Rarely, ectopia cordis can occur with a structurally normal heart. Isolated atresia of the subpulmonary infundibulum with a patent and structurally normal pulmonary valve is docu-
mented here for the first time (Figure 2).
Could external compression produce atresia of the subpulmonary infundibulum? The human embryo is flexed ventrally during the first 3 weeks after ovulation. At approximately 23 days of gestation, the developing heart descends from the neck into the thorax, which is still widely patent (complete thoracic ectopia cordis and omphalocele normal at this stage).’ During the subsequent 11 to 15 days (until 34 to 36 days of gestation), the rapidly developing embryonic head is ventrally flexed, resulting in cephalocardiac approximation.’ Normally, at about 37 to 38 days of gestation, the embryo starts to straighten out and the heart fits into the developing chest. The semilunar valves and the truncal septum complete their development during Streeter’s horizon XVII, that is, 34 to 36 days of gestation. Ap-
Primary Sarcoma Mitral Stenosis
proximately during that period, the medial migration and fusion of the paramedian mesenchymal somites normally results in the formation of an intact thoracic and abdominal ventral wa11.4$6The aforementioned embryologic observations suggest the hypothesis that failure of abdominal wall fusion, associated with a defect in or absence of septum transversum, may allow herniation of the heart into the amniotic cavity through these defects. Extrinsic compression of the ectopic and “unprotected” heart may result in the unique anomaly displayed by our patient, isolated infundibular atresia. Another form of mechanical teratogenesis by amniotic band(s) was described by Kaplan et al6 Because there was no evidence of amniotic sac rupture with amniotic band formation in our case, absence of the septum transversum component of the diaphragm and failure of fusion of
of the Heart
Causing
Michael J. Domanski, MD, Thomas F. Delaney, MD, David E. Kleiner, Jr., MD, Mary Goswitz, MD, Arthur Agatston, MD, Eben Tucker, MD, Michael Johnson, MD, and William C. Roberts, MD ly. In September 1989, she developed orthopnea, dyspnea with walking, syncope and easyfatigability. In Such was the case, however, in the October 1989, examination by a carpatient to be described herein. diologist discloseda loudfirst heart A 46year-old woman (CC no. sound, a grade l/6 systolic ejection 22-72-58-I) who died on January 7, murmur at the left sternal border 1990, had beenwell until April 1989, and apex that radiated into the axilwhenshehad an episodeof dizziness la and a grade 2/6 systolic murmur and right eye blindnessthat resolved at the right sternal border that inspontaneously. In June 1989, she creased with inspiration. Chest radiograph suggested a dilated left had a transient episode of right lower arm numbnessand right eye atrium and was consistent with conblindnessthat resolvedspontaneous- gestive heart failure. An echocardiogram disclosed severe mitral stenosis, mild mitral regurgitation, a From the Cardiology and Pathology Branches, National Heart, Lung, and Blood dilated right atrium and right venInstitute, the Radiation-Oncology Branch and tricle, pericardial effusion and a Laboratory of Pathology, National Cancer Inlarge massin the region of the postestitute, Bethesda, Maryland; the Division of rior mitral leaflet protruding into Cardiologv. Georgetown University Hospital, Washington, L3.C: the Division of eardioiogy, and obstructing the mitral orifice Mount Sinai Medical Center, Miami, Florida; (Figure 1). Cardiac catheterization and the National Institutes of Health, Buildrevealed the following pressures (in ing 10, Room 7Bl5, Bethesda, Maryland mm Hg): right atria1 mean, 20; right 20892. Manuscript received and accepted ventricular, 105/18; pulmonary arMay 241990.
ardiac sarcomas are rare and mitral stenosis caused by this neoC plasm in the left atrium is even rarer.
Y_
THE AMERICAN
JOURNAL
diaphragm and failure of fusion of the abdominal wall appear to be the main morphogenetic mechanisms leading to extreme thoracoabdominal ectopia cordis in our patient. 1. Van Praaeh R. Weinbera PM. Smith SD. Foran RB, Van Priagh’ S. Malp&ition of the heart. In: Adams FH, Emmanouilides CC, Riemenschneider TA, eds. Moss’ HeartDisease in Infants, Children, and Adolescents. 4th ed. Baltimore: Willinrm & Wilkins, 1989:530-580. 2. Scott GW. Ectopia cordis: report of a case successfully treated by operation. Guys Hospital Rep 1955; ID4:55-S7. 3. Cullerier. Observation sur un deplacement remarquable du coeur; par M. Dcschamps, medicin a Laml. J Gen de Medicine, de Chirurgie ef de Phormatie 1806;26:275-279. 4. Ravitch MM. Congenital deformities of the chest wall and their operative correction. Philadelphia: WB Saunders, 1977:1-77. 5. Cantrell JR, Hailer J.4, Rawtch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gym and Obstet /958;107:602-6 14. 6. Kaplan LC, Matsuoka R, Gilbert EF, Opitz JM, Kurnit DM. Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet 1985;21:187-202.
tery wedgemean, 35; left ventricular, 125/l 8; and aortic, 125/80. The pulmonary artery wedge-left ventricular mean diastolic gradient was 20 mm Hg. The left ventricle contracted normally. By angiography, neither mitral nor aortic valve regurgitation was present and the epicardial coronary arteries were normal, Thoracotomy was performed and a “‘lemon”-sized mass involving the basal portion of the left ventricular wail was found. Computed tomography after operation localized the massto the region of the ‘posterior mitral leaflet. Electrocardiogram showed changes of right ventricular hypertrophy, incomplete right bundle branch block and left atria1 abnormality. Echocardiogram showed a large massin the region of the mitral valve and it extended into the left atrium and left ventricle. By Doppler, the estimated mean mitral pressure gradient was 18 mm Hg. Magnetic resonance imaging (Figure 2) confirmed these findings. The patient received radiation therapy, bu6 died suddenly. At necropsy (A90-2), the heart with the neoplasm weighed 530 g. The visceral and parietal pericardia
OF CARDIOLOGY
OCTOBER
1, 1990
