Mild Cardiomegaly Research Articles

MYOFIBRILLAR AND AUTOPHAGIC MYOPATHIES: P.76Clinical features of X-linked myopathy with excessive autophagy (XMEA) in Japan: a nationwide survey

X-linked myopathy with excessive autophagy (XMEA) is a very rare X-linked recessive vacuolar skeletal myopathy and is pathologically similar to Danon disease. Causative mutations have been identified in the VMA21 gene on Xq28. However, the clinical features of XMEA have not been well established. Therefore, to evaluate the clinical features and management of XMEA, we sent questionnaires on XMEA to 2,617 hospitals in Japan that have departments of neurology, cardiology, or pediatrics. We reviewed clinical histories, muscle specimens, and genetic analyses of the VMA21 gene. As a result, we identified 12 XMEA male patients from 4 families in Japan. Onset was from birth to childhood. All patients showed progressive proximal muscle weakness of the extremities. Among the 9 patients who had died, all died of respiratory failure or pneumonia during the infantile period for 6 patients and the fifth decade for 3 patients. Cardiomyopathy was not evident in all, although 3 patients showed mild cardiomegaly. All patients showed autophagic vacuoles with sarcolemmal features (AVSF) in muscles. In addition, they showed depositions of complement C5b-9 over the surface of muscle fibers and multilayered basal lamina along the sarcolemma, which were not seen in Danon disease. All families had VMA21 gene mutations. We found c.164-6T>G in 2 families, c.161A>T in 1 family, and c.164-7T>G in the other family. Previously we reported one family with c.164-6T>G as a congenital autophagic vacuolar myopathy (CAVM) and the other as an infantile autophagic vacuolar myopathy (IAVM). In conclusion, XMEA is an extremely rare disorder characterized by strictly skeletal muscle disease and may be primarily caused by lysosomal dysfunctions. None of the XMEA patients had cardiomyopathy except for 3 patients with cardiomegaly, which is critically different from Danon disease. In addition, we conclude that CAVM and IAVM are allelic to XMEA, caused by a severe VMA21 mutation. Our findings suggest that XMEA is more clinically variable than previously thought.

Without Chords You Flood the Accordian: An Atypical Cause of Sudden Dyspnea in a Healthy Adult

SESSION TITLE: Cardiothoracic Surgery SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Acute mitral valve regurgitation (AMR) occurs when there is structural compromise in components of the mitral valve. Clinical presentations may be confounded by more common cardiopulmonary processes1. This may delay diagnosis and management, thus increasing patient morbidity and mortality2. CASE PRESENTATION: An 84 YOF presents with a 6 day history of myalgias, palpitations, cough + SOB. PMH includes HTN, esophageal spasm, and DVT. Admission exam reveals tachycardia, irregularly irregular rhythm, and grade IV holosystolic murmur along the left sternal border. Bilateral (bl) rales heard in her lower lung fields. ECG confirms A-fib with RVR.WBC is 17,700, lactic acid 1.4 mmol/L, BNP 8,838 pg/mL, procalcitonin 0.46 ng/mL.Urine Streptococcal pneumoniae Ag is positive.Blood, sputum cultures + rapid influenza testing are negative. CXR shows mild cardiomegaly with bl pulmonary edema (Fig 1).Non-contrast chest CT shows bl upper lobe (UL) groundglass densities, moderate bl pleural effusions, bibasilar atelectasis, and focal areas of bl UL nodularity(Fig 2).Despite rate control + broad spectrum antibiotics, her hypoxia worsened.TTE showed EF 70%, normal ventricular sizes, PASP 50 mmHg, moderately dilated LA, myxomatous mitral thickening with a flail posterior leaflet, ruptured chordae tendinae, severe mitral regurgitation and an eccentric anterior jet penetrating the pulmonary veins.Pt is mechanically ventilated due to acute hypoxic respiratory failure + undergoes mitral valve repair.One week post-op, she is in no respiratory distress and saturating well on room air, suggesting complete reversal of her acute cardiopulmonary disease (Fig 3). DISCUSSION: Chord rupture is the most common etiology of AMR, typically affecting the thinner posterior mitral leaflets3. It is most often seen as a spontaneous event in elderly pts with no known heart disease presenting with sudden SOB and hypotension3. LA pressure rapidly increases causing pulmonary congestion + edema3. CXR findings of RUL pulmonary edema has high specificity but bl edema and effusions are more common1-3. Bl pulmonary edema is often interpreted as a manifestation of CHF or underlying infection and can delay tx of the valvular defect.CT findings in AMR include intralobar septal thickening, parabronchial cuffing and diffuse groundglass opacities1,3. CONCLUSIONS: SOB is commonly encountered in medicine.Despite evidence of infection or another common cardiopulmonary process, clinical correlation of sudden dyspnea and new murmur should prompt suspicion of AMR.CXR, CT and echo should all be utilized to evaluate AMR severity and initiate urgent surgical intervention.This case demonstrates the potential to reverse clinical symptoms and drastically improve pt outcomes. Reference #1: Brander L et al. Right-sided pulmonary oedema.Lancet 1999;354:1440. Reference #2: Morris P et al. Focal pulmonary oedema: an unusual presentation of acute mitral regurgitation.Thorax 2013;68:498. Reference #3: Lucenti M et al. Acute shortness of breath. J Emerg Med 2003;24(3):319. DISCLOSURE: The following authors have nothing to disclose: Patrick Twohig, Jaclyn Rivington, Rex Yung No Product/Research Disclosure Information

Clinical and Laboratory Findings of Normal Children Suspected of Having Cardiac Disease

The definite diagnosis of cardiac disease in infants and children usuallycannot be made on the clinical evidence alone; in most instances supportingexaminations are required. lt is understandable, therefore, that non-cardiologists might suggest that normal subjects are thought to have cardiac problems; the reverse is also true: infants and children with cardiac disease may be ignored. This study aimed to examine the clinical and laboratory findings of normal infants and children who were initially suspected to have cardiac disease. Of 3601 patients referred to our OPD of the Division of Cardiology, Department of Child Health, Medical School, University of Indonesia, from January 1983 to December 1992; in 1782 patient (49.5%) no cardiovascular problems were detected. Most of them (66.2%) were of the age of less than 1 month. Most of the referring physicians (66.3%) were general practitioners. The referring diagnoses were congenital heart disease (286), cardiomegaly (197), rheumatic fever or rheumatic heart disease (110), and syndromes with cardiac involvement (104). The diagnoses were based on dyspnea, cyanosis on crying, chest pain, joint pains, and easy fatiguability. Murmurs found on examination were systolic in 355 patients (19. 9%), and continuous in 6 patients (0,33%). No diastolic murmurs were noted. The final diagnoses were normal (including innocent murmurs and sinus arrhythmias) in 85.8%, mild cardiomegaly in 10.4%., breath holding spells in 2.0%, sinus tachycardia in 0.9%, polyarthritis in 0.2% and other in 0.7% of all cases. More practice in cardiac physical examination is needed for medical students to reduce the unnecessary referrals.

心停止時の胸骨圧迫による胸骨骨折によって引き起こされた心筋，冠動脈および内胸動脈複合損傷の1例(A case of myocardium, coronary artery and internal mammary artery injury caused by a sternal bone fracture due to chest compression during cardiac arrest resuscitation)

心停止に対する胸骨圧迫による合併症のほとんどが肋骨骨折などの胸郭損傷であり，生命にかかわる重篤な合併症は稀である。今回我々は，院外心停止症例への胸骨圧迫に合併した胸骨骨折によって心筋，冠動脈および内胸動脈複合損傷を来し，緊急手術を要した稀な症例を経験したため，文献的考察を交えて報告する。症例は61歳の男性の目撃のある心停止症例で，初期波形はpulseless electrical activityであったが，すぐにventricular fibrillation（Vf）に移行した。除細動や薬剤の追加投与を行ってもVfが持続したため，搬入後すぐに経皮的心肺補助装置を導入し，自己心拍が再開した。緊急冠動脈造影検査を施行し，冠動脈形成術を施行したが，ショック状態の改善はなく，CT検査上，当初認めていなかった心嚢液貯留と右血気胸を認めたため，心嚢および胸腔ドレナージを施行後に緊急手術を行った。胸骨骨折断片が心嚢を貫き，その直下の心筋および冠動脈，内胸動脈損傷を認めた。Deadly triadを認めたため，止血術と一時的閉胸術を施行し，翌日に定型的閉胸術を行った。その後，低酸素脳症による脳腫脹が進行し，第4病日に死亡した。自己心拍再開後心タンポナーデや血気胸を認めた場合には，胸骨圧迫による合併症の影響も考慮するべきである。 Fatal cardiothoracic injuries due to chest compression during CPR are rare. We report a case of myocardial injury, coronary artery injury, internal mammary artery injury caused by a sternal bone fracture associated with cardiac arrest resuscitation. A 61–year–old man presented with cardiac arrest. The initial cardiac rhythm was PEA, which was subsequently turned into persistent VF. Upon admission, we immediately introduced the percutaneous cardiopulmonary support and the patient returned his spontaneous circulation. The coronary angiography revealed obstruction of the left anterior descending coronary artery, and he underwent percutaneous coronary intervention. Computed tomography showed massive pericardial effusion and hemopneumothorax. Pericardiocentesis and thoracic drainage followed by an emergency exploratory surgery through a median sternotomy were performed. The laceration of the left coronary branch and right internal mammary arterial injury caused by the sternal bone fracture were found intraoperatively. Each bleeding source was controlled by suture and ligation. Although his circulation seemed to be stabilized, the patient passed on day 4 due to severe brain edema caused by cerebral hypoxia. The possibility of iatrogenic traumatic cardiac tamponade and hemopneumothorax should be considered if a CPA patient presents with return of spontaneous circulation after chest compression. 心停止症例に対する胸骨圧迫は非常に重要であり，2010 AHA Guidelines（G2010）以降，質の高い胸骨圧迫の方法が強調されている 1。胸骨圧迫による合併症は少なくなく，そのほとんどが肋骨骨折などの胸郭損傷であり，生命にかかわる重篤な合併症は稀である。今回我々は，院外心停止症例に対して，長時間胸骨圧迫を要し，胸骨骨折とそれに伴う心筋，冠動脈および内胸動脈複合損傷を来し，緊急手術を要した稀な症例を経験したため文献的考察を交え報告する。 症 例：61歳の男性 現病歴：夕食後に突然倒れ，意識がないため救急要請された。消防機関の覚知から12分後に救急隊は現着した。現着時，心停止状態で，初期波形はpulseless electrical activityであった。救急隊により即座に心肺蘇生が開始され，アドレナリン1mgが静脈注射された。その直後にventricular fibrillation（Vf）になり，除細動が施行された。救急隊現着から14分後にラピッドカー医師が接触した。Vfが持続していたため，当救命救急センターに，搬入後迅速にECPR（extracorporeal cardiopulmonary resuscitation）が開始できるように指示連絡を行い，塩酸ニフェカラント，マグネゾールを追加投与し，搬送した。現場近くには救命救急センターがなく，約20kmを搬送することとなり，覚知から病院搬入まで47分を要した。搬送中，ラピッドカー医師は，気管挿管，静脈路の追加，薬剤投与，除細動などを行い，胸骨圧迫と人工呼吸は救急隊が行った。ラピッドカー医師接触後，著明な胸郭の変形のため胸骨圧迫のリコイルは不十分な状態であった。 搬入後の経過：搬入時，Vfが続いていたため，経食道心エコーで大動脈解離がないことを確認し，搬入8分後にECPRを開始した（覚知からECPR開始まで55分）。ECPR開始後，ECGモニター上，Vfとwide QRS波形（Fig. 1a）を繰り返し，約2分後に自己心拍は再開した。心エコー上，心嚢液の貯留はなく，左室壁運動の全体的な低下を認めた。搬入37分後に胸部X線検査を行い，心拡大と右側にdeep sulcus signを認めた（Fig. 1b）。搬入時の意識レベルはGlasgow Coma Scale E1VTM1，瞳孔径は3mm/3mm，対光反射は認めなかった。搬入時の血液検査上，CK 104IU/L, CK–MB 7.05IU/L, トロポニンI 0.166ng/mL, H–FABP 51.8ng/mLと心筋逸脱酵素の上昇を認め，搬入64分後にCAG（coronary angiography）を施行した。CAG上，冠動脈左前下行枝 #6が100%閉塞していたため，血栓吸引を行い，ベアメタルステント（MULTI–LINK8® 3.0×23mm）を留置した。PCI（percutaneous coronary intervention）後，Intra–aortic balloon pumpingを開始したが，収縮期血圧は60–70mmHgのショック状態を認めた。遷延するショックと頭蓋内の精査のため，搬入201分後にCT（computed tomography）検査を施行した。頭部CT上，大脳半球の皮髄境界が不鮮明で，低吸収域が散見し，低酸素脳症を示唆する所見を認めた。胸部CT上，心嚢液の貯留（Fig. 1c），右血気胸（Fig. 1d），胸骨骨折，多発肋骨骨折を認めた。それに対し，心嚢および右胸腔ドレナージを行った。前者は留置直後に約300mL，その後約30分で370mL，後者は留置直後に約750mL，その後，約30分で450mLの出血を持続的に認め，輸血を行ってもショック状態は改善しなかったため，緊急手術を施行した。胸骨正中切開を行うと，胸骨は横断骨折を認めた。心嚢を開放すると血液と凝血塊を多量に認め，左前側壁心筋および冠動脈high lateral枝から動脈性出血を認めた（Fig. 2a）。詳細に観察すると胸骨骨折左側断片部直下の心嚢に穿孔部を認め，その直下に，同心筋および冠動脈損傷を認めた（Fig. 2a）。斜めに切れ一部挫滅した裂創で，骨折断端部と場所が一致した（Fig. 2b）。冠動脈損傷に対しては8–0プローリン糸にて縫合止血し，心筋挫傷部はフィブリノゲン加第13因子＋ヒトフィブリノゲン・トロンビン分画で止血した。また，胸骨骨折右側断端部直下の右内胸動脈の損傷も認め，右胸腔側に出血し，血胸の原因となっていた。これに対し結紮止血した。術前より体温34℃，BE –12.4mmol/L，PT活性 23.1%とdeadly triadを認め，循環動態不安定であったため，ダメージコントロール手術とし，vacuum–packing closureで一時的閉胸を行った（手術時間2時間13分）（Fig. 3）。CAGを再確認すると，冠動脈high lateral branchからextravasationを認め，術中所見と一致した（Fig. 2c）。 a: ECG (electrocardiogram) showed wide QRS ventricular arrhythmia. b: Mild cardiomegaly and right deep sulcus sign suggesting pneumothorax were seen in the chest X–ray. c, d: CT scan showed pericardial effusion (white arrow) and hemopneumothorax (black arrow). a: Anterolateral side of the myocardial injury and high lateral coronary branch injury with exsanguinated bleeding (white triangle) were found intraoperatively (black arrow shows cranial direction). b: The left sternal bone fracture was found. c: CAG (coronary angiography): the extravasation from high lateral branch was found (white circle and white arrow). Clinical course. HR: heart rate, Bp: blood pressure, BT: blood temperature, PCPS: percutaneous cardiopulmonary support, CAG: coronary angiography, PCI: percutaneous coronary intervention, IABP: intra–aortic balloon pumping, CT: computed tomography, RBC: red blood cell, FFP: fresh frozen plasma, PC: platelet concentrate 術後経過：循環動態不安定かつdeadly triadを認めたため，低体温療法は行わなかった。輸血は術中・術後合計濃厚赤血球14単位，新鮮凍結血漿26単位，濃厚血小板20単位を投与した。循環動態は徐々に安定し，体温36.8℃，BE –0.8mmol/L，PT活性107.4%とdeadly triadも改善したため，第2病日，再手術を行い，損傷部の止血を確認し，定型的閉胸術を施行した。 その後，呼吸状態，循環動態は安定し，瞳孔は3mm/3mm，対光反射は両側とも認めていたが，第3病日に突然，瞳孔が7mm/7mmに散大し，対光反射が両側とも消失した。角膜反射，咽頭反射，咳反射などの脳幹反射も消失し，低酸素脳症による脳腫脹が進行したものと考えられた。家族に現状を説明し，これ以上の積極的な加療を希望されず，第4病日に死亡した。 心肺蘇生による合併症発生割合に関するレビューでは，成人の肋骨骨折は13–97%，胸骨骨折は1–43%であったが，冠動脈損傷，心挫傷，内胸動脈損傷，血気胸の報告はなかった 2。別のレビューでは，気胸1.3–3.0%，血胸0.8–8.7%，血気胸5.3%，心嚢内血腫1.1–8.4%，左室損傷0–8%であった 3, 4。内胸動脈や冠動脈の損傷の報告はなかった。本邦では胸骨圧迫に伴う冠動脈損傷の報告は1例のみ 5で，内胸動脈損傷は，会議録での報告はあるが，冠動脈・内胸動脈損傷および血気胸の複合損傷の報告はなく，稀な合併症であると考えられた。 今回施行された胸骨圧迫について，本症例にかかわった救急隊に問うと，位置，深さ，リズム，リコイルは，当時のG2010 1を遵守して施行されていた。しかし，深さに関しては当時2015 AHA Guidelines（G2015） 6が発表される前であったため，「6cmを超えない」を行えていたかどうかは不明であった。救急車内に収容後よりリコイルが不十分となった経緯から，この間に，胸骨圧迫の深さが深くなりすぎたことにより胸骨骨折を引き起こした可能性が考えられた。以上から，G2015で変更となった，胸骨圧迫の深さの適正化「5cm以上6cmを超えない」を徹底することにより，今回のような胸骨圧迫の合併症を軽減できると考えられる。また，胸骨圧迫中にリコイルが不十分な胸郭の損傷が生じた後の胸骨圧迫法については，G2015では言及されていない 6。同様の方法で胸骨圧迫を継続することは，その効果が疑わしいばかりか，重篤な合併症へとつながる可能性がある。その場合，用手による胸骨圧迫の代替方法として，①開胸心マッサージや，②Cardio–Pump® の使用などを考慮すべきである。①開胸心マッサージは，内因性心停止であれば一般的には適応がないが，胸骨圧迫のリコイルが不十分である場合，胸骨圧迫による合併症進行の予防と有効な胸骨圧迫の観点から，この限りではない。②Cardio–Pump® は，胸郭を能動的に圧迫し，そして引き上げることにより，胸腔内の陰圧が高まることによる心臓への静脈還流の増大と，その上で圧迫することによる全身への血液の拍出といった胸郭ポンプ説を利用した装置である。文献上，用手胸骨圧迫と比べ，心拍再開率 7や生存率，退院率が高く 7, 8, 9，神経学的後遺症の発生率は差がない 10といった報告もある。リコイルが胸骨圧迫中に不十分になった場合にはこの装置は有用であろう。 本症例で出現した心タンポナーデと血気胸の原因に関して，前者は，当初急性心筋梗塞による心破裂またはPCIに合併した冠動脈損傷を考え，後者は，右鎖骨下静脈穿刺など施行しておらず，来院後の医原性損傷の可能性はないと考えた。急性心筋梗塞による心破裂は0.93–2.96% 11，PCIに伴う冠動脈損傷は0.84%の発生率が報告 12されている。手術所見上，胸骨骨折断端部と各損傷部の形態や場所が一致したこと，PCI時に損傷部にガイドワイヤーなどを挿入していないこと，心筋損傷部は虚血壊死に陥っていなかったことより心筋梗塞やPCIの関与は否定でき，胸骨圧迫による合併症と考えられた。搬入当初，エコー検査で心嚢液貯留や血胸を認めなかったが，PCI後に急激に認めた原因としては，胸骨圧迫によって起こった心筋，冠動脈，内胸動脈の損傷が，心拍再開とともに顕在化し，さらに遷延するショックと低体温から凝固機能が破綻し，大出血に転換させられたためと考えられた。 院外心停止症例に対する胸骨圧迫によって，胸骨骨折とそれに伴う心筋，冠動脈および内胸動脈の複合損傷を来した1例を経験した。心停止症例に対して胸骨圧迫を施行し，心拍再開後に心タンポナーデ，血胸を認める場合には，胸骨圧迫による合併症の関与の可能性があること，また心拍再開後循環動態が不安定な場合には，凝固機能が破綻しているため，軽微な損傷でも大出血になりうることを念頭において対応するべきである。 開示すべき利益相反はない。

A rare case of cardiac lymphangioma

IntroductionPrimary cardiac tumors are rare, their incidence ranging from 0.0017% to .33% at autopsy.1 Cystic lymphangioma, usually confined to head and neck, is a well-recognized benign tumor that occurs during childhood.2 However, a cardiac lymphangioma is exceptionally uncommon and a particularly rare form of cardiac disease. Case reportA 22-year-old girl admitted with accidental trauma and dyspnea on exertion since childhood. Chest X-ray showed right hydropneumothorax and mild cardiomegaly. MDCT chest showed right hydropneumothorax and a cystic mass which was present on the left side anterior to the heart. Then Echo was done which showed normal left ventricular function, normal great vessels, chambers and valves. A 12cm×8.5cm mass was seen in the pericardium over right ventricle (RV) compressing it with no features of obstruction. Cardiac MRI revealed a large hyperintense lesion of 14cm×8cm×12cm in anterior mediastinum with multiple septations which was present anteriorly to right atrium (RA) and right ventricle, compressing RA and RV. MDCT coronary angiogram RCA running through the mass. During surgery, after opening the pericardium a cystic mass of 20cm×15cm×15cm was found adherent to RA and RV moving with the heart. About 700ml of fluid was aspirated and mass was opened up which showed multiple strands and trabeculations. Mass was completely excised except the wall adherent to RV. RCA was transected and end to end anastomosed with saphenous venous graft. Histopathology of biopsied mass confirmed it as cardiac lymphangioma containing lymphatic spaces lined by single layer of endothelium. DiscussionCardiac lymphangiomas are very rare. Cardiac lymphangioma are most often diagnosed incidentally by chest X-ray presenting as asymptomatic masses. However, they may cause congestive heart failure, syncopal or embolic pathology, arrhythmias, palpitations, or cardiac tamponade. Majority of symptoms are accredited to their size and location. These tumors most commonly occur in the pericardial space, but other unusual primary sites include the myocardium, the posterior wall of the left atrium, and AV node regions.3–5 At MRI, these tumors may have a high signal intensity on T1 weighted images, perhaps due to the presence the proteinaceous material in the lymph within the stroma and cystic spaces.6 Cystic lymphangioma is typically a multiloculated lesion with cystic cavities divided by the septa of variable thickness. Cardiac lymphangiomas have a possible risk of recurrence, especially if there has been incomplete resection. Therefore, extensive resection is recommended.7 ConclusionImaging with MDCT and MRI aid in the proper diagnosis of pericardial lymphangioma. A meticulous planning is required for surgical excision of this lesion. We report this case because of its rarity and to highlight the role of imaging and the surgical challenge in view of its location and proximity to coronary vessels.

Arteriovenous fistula between descending aorta: and left inferior pulmonary vein

Congenital systemic arteriovenous fistula arising from aorta and draining through the pulmonary vein to left atrium without lung sequestration is a rare vascular malformation [1,2]. On physical examination there is usually a continuous or systolic murmur. Clinical presentation depends upon the size and place of the vascular malformation [3]. If there is a suspicion of arteriovenous fistula on physical examination and echocardiography, multislice computed tomography angiography (CTA) can be helpful in confirming diagnosis and anatomic model, and choosing appropriate treatment modality [3,4]. We describe a rare case with arteriovenous fistula between thoracic aorta and left inferior pulmonary vein occluded with Amplatzer vascular plugs. A 20 month old girl with failure to thrive and cardiac murmur was referred by a pediatrician with suspected congenital heart diseases for an echocardiography. Her weight and height were 9 kg (<3% percentile) and 78 cm (10-25% percentile). Physical examination confirmed the presence of Grade III/VI systolic murmur heard on apical region and radiated to the mid scapular region posteriorly. There were a hyper dynamic pulse at the rate of 110/ min, forceful left ventricular apex impulse and mild hepatomegaly. There was no cyanosis or clubbing. Chest radiography showed mild cardiomegaly (cardio thoracic ratio 0.54) with increased pulmonary vascular markings especially in the lower left pulmonary region. The patient has mild congestive heart failure clinically. Echocardiography revealed left atrial and ventricular enlargement, moderately mitral valve regurgitation and increased blood flow into left atrium from enlarged left inferior pulmonary vein. An abnormal vessel that demonstrated a communication with the left inferior pulmonary vein was noted nearly to the left atrium. Diagnosis of the patient may be arteriovenous malformation/fistula but was not clear. Hence multislice CTA was done which revealed an abnormal communication, arteriovenous fistula, originating from thoracic aorta and draining into left inferior pulmonary vein (FIGURE 1 & VIDEO 1). The fistula drained through the left inferior pulmonary vein to the left atrium leading to left-to-left shunt. Lung had normal bronchial connection and pulmonary vasculature. Thoracic aortogram revealed an arteriovenous fistula originating from thoracic aorta and draining to left inferior pulmonary vein, and finally into left atrium (VIDEO 2). That was closed with embolization of Amplatzer vascular plugs. Post procedure Mustafa Kosecik

Sonographic Diagnosis of Fetal Adrenal Hemorrhage Complicating a Vein of Galen Aneurysmal Malformation.

The vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation which causes end-organ ischemia or venous congestion due to heart failure. Adrenal hemorrhage associated with VGAM has not been reported in the literature. We present the imaging findings of a fetal VGAM with adrenal hemorrhage. A 26 year-old primigravida woman whose fetus with VGAM and mild cardiomegaly was scanned in the 34th week. On fetal ultrasound, a hyperechoic, well-circumscribed mass in the left suprarenal region was shown. Fetal and postnatal magnetic resonance imaging confirmed the diagnosis of adrenal hemorrhage. The baby died after delivery. Adrenal hemorrhage can complicate VGAM in fetuses with severe heart failure. Evaluation of the adrenal gland in affected cases may contribute to the prenatal counseling, and postnatal management.

Prenatal diagnosis of intrahepatic portosystemic shunt in intrauterine growth restricted fetus with transient fetal anemia and cardiomegaly: A case report

Introduction: congenital intrahepatic portosystemic shunts are abnormal communications between hepatic and portal vessels. We present a case of antenatally diagnosed portohepatic shunt in intrauterine growth restricted (IUGr) fetus with cardiomegaly and transient fetal anemia. case report: A 37-yearold primiparous woman was referred in a late second trimester for fetal growth assessment. Ultrasound revealed IUGr fetus at 9th centile with brain spearing and forward end-diastolic flow in umbilical artery. Middle cerebral artery (McA) peak systolic velocity (PsV) Doppler was high for the gestational age, possibly representing fetal anemia. Fetal liver was enlarged with abnormal circulation consisting of tortuous dilated intrahepatic vessels originating from the umbilical vein and giving off several branches with no clear end point communication sites. Fetal echocardiography showed mild cardiomegaly with hyperdynamic flow state

Spontaneous resolution of an umbilical cord arteriovenous fistula

AbstractAn umbilical arteriovenous (AV) fistula is an extremely rare anomaly of the umbilical cord, with only one case being documented in the literature. The purpose of this report is to describe the prenatal sonographic characteristics of such a lesion and its potential complications. We report a case of an umbilical cord AV fistula detected at 24 weeks of gestation in one fetus of dichorionic-diamniotic twins. Color flow and spectral Doppler examinations showed a jet originating from one of the umbilical arteries entering the dilated umbilical vein. Serial ultrasounds revealed relative oligohydramnios and deep A waves in the ductus venosus for the affected twin. Upon performing fetal echocardiography assessment, mild cardiomegaly and dilatation of the inferior vena cava were detected. Chromosomal testing revealed a normal karyotype. The patient continued to be followed for close monitoring of fetal well-being and corticosteroids were administered. Cesarean section was planned for 28–30 weeks, but surprisingly, the oligohydramnios resolved, Doppler studies normalized, and no further intra-uterine growth restriction or fetal compromise was observed. Due to the recurrence of abnormal Doppler studies at 36 weeks of gestation, the patient was admitted for an induction of labor followed by a vaginal delivery of two healthy infants. Given the scarcity of reports regarding umbilical cord AV fistula, it is important to perform an extensive investigation of the affected fetus including karyotype and echocardiography. Furthermore, delivery timing should rely on close surveillance of fetal well-being to avoid the risk of fetal demise.

Hospitalists Should Have Increased Suspicion for Primary Ciliary Dyskinesia in Patients With Congenital Heart Disease

Case: An infant boy with a prenatal diagnosis of congenitally corrected transposition of the great arteries (CC TGA, also known as L-transposition) was born at an outside hospital. Delivery was at term and via cesarean delivery for nonreassuring fetal heart rate. He was the first infant of a 22-year-old mother with no family history of heart disease, and the delivery was otherwise uncomplicated, with Apgar scores of 9 and 9 at 1 and 5 minutes, respectively. He was admitted to a NICU for observation, where he was noted to desaturate to 80% oxygen saturation when agitated. The care team chose to electively intubate, start him on prostaglandin E, and transfer to a tertiary care children’s hospital for further evaluation. On arrival, the patient had a white blood cell count of 18 × 103/μL with 76% neutrophils and 14% lymphocytes, a hematocrit of 55%, normal chemistry values, and a capillary blood gas analysis showing a pH of 7.4 and Pco2 of 41. He was stable on the ventilator with saturations in the high 90s on 30% fractional inspired oxygen content. Chest radiography showed clear lungs and mild cardiomegaly. At this point, it was presumed there must be additional occult cardiac lesions in addition to the CC TGA leading to the infant’s hypoxia. Question: What other cardiac conditions are associated with CC TGA, and what is the natural course of this anomaly? Discussion: In CC TGA, the heart twists abnormally during embryogenesis, and the right ventricle supplies blood to the body instead of the left. It represents only 0.05% of all congenital heart diseases and is usually associated with other morphologic cardiac defects. The most commonly associated malformations are an interventricular communication (60%), obstruction of the pulmonary outflow tract (40%), and abnormalities of the morphologically tricuspid valve (90%). …

A rare case of chronic diarrhea.

noscopy showed diffuse mucosal edema through the entire colon, with multiple reddish erosions and contact bleeding (Fig. A). On colonoscopic biopsy, homogenous amyloid deposits were seen in the parenchyma and vessels (Fig. B, H&E, ×200), and Congo red staining for the amyloid, coupled with polarized light, demonstrated the characteristic apple-green birefringence (Fig. C, Congo red, ×400). Chest radiography revealed mild cardiomegaly and pulmonary edema (Fig. D). In urine immunofixation, electrophoresis showed a prominent M-peak on the lambda light chain. The peripheral blood smear finding was only thrombocytosis, and bone marrow aspiration showed 8−10% plasma cells of all nucleated cells without Congo red positivity. What is the diagnosis? A Rare Case of Chronic Diarrhea

An adult patient with patent ductus arteriosus: multimodality diagnostic approach

A 20 year-old man was admitted to the hospital with exertional dyspnoea (NYHA class II). Auscultation of his chest revealed a harsh, grade 3/6 continuous murmur which was loudest at the second left intercostal space; there were no signs suggestive of volume overload, ventricular failure, or raised pulmonary pressures. Chest X-ray demonstrated mild cardiomegaly with normal pulmonary vasculature, and electrocardiogram revealed normal sinus rhythm with no features of ventricular strain or atrial enlargement. Transthoracic echocardiography (TTE) (IE33 Matrix probe, Philips Medical Systems, Bothell, WA, USA) revealed a mean left ventricular ejection fraction of 60%. Left heart chambers and pulmonary artery were dilated. Initial TTE showed the presence of a large (1.65 cm2) window-like patent ductus arteriosus (PDA) in the suprasternal notch view. Colour floor M-mode echocardiography demonstrated a continuous left to right shunting from the aorta into the left pulmonary artery (Figs. 1A, B). Two-dimensional (2D) transoesophageal echocardiography (TEE) revealed a large window-like PDA (Figs. 1C, D). A subsequent real-time 3D TEE (3D RT TEE) revealed the presence of a large PDA (1.65 cm2) (Figs. 1E, 2A–D). Contrast enhanced thorax computed tomography (CT) demonstrated a large PDA with no additional cardiac abnormality (Figs. 3A, B). Ambulatory Holter recordings were normal. The patient was referred to cardiac surgery.

Hemodynamic assessment of indomethacin‐induced fetal heart failure in high‐output state

Hemodynamic study was performed on a 32-year-old woman presenting at 27 weeks' gestation. Ultrasound revealed a single normal fetus with mild cardiomegaly, polyhydramnios, and placental chorioangioma. Doppler study showed increased middle cerebral artery peak systolic velocity, normal Tei index, and forward flow of "a" wave with normal preload in the ductus venosus. Twelve hours after initiation of indomethacin for tocolysis, frank hydrops fetalis developed rapidly. The right ventricle showed poor contractility and performance. Markedly increased preload in ductus venosus with reversed "a" wave and pulsations in the umbilical vein were demonstrated. This study suggests that indomepacin treatment in fetal high-cardiac output state should be used with extreme caution.

An Interesting Case Report of Diabetic Myonecrosis

Case Presentation A 49-year-old male with a history of ischemic cardiomyopathy, New York Heart Association class II heart failure with an ejection fraction of 35% status post biventricular implantable cardiac defibrillator (ICD), end stage renal disease on dialysis, diabetes mellitus II, and pancreatitis complicated by pseudocyst presented with a sudden onset of left thigh pain with a palpable mass. He denied trauma to the site, numbness, tingling, weakness, fevers, or chills. Review of systems was otherwise negative. Vital signs at presentation were as follows: temperature 98.8°F, pulse 77 beats per minute, blood pressure 150/88 mm Hg, respiratory rate 18 breaths per minute, and oxygen saturation of 96% on 2 liters of nasal cannula. He was notably uncomfortable on exam. The left thigh was edematous on the lateral side and there was tenderness over the distal, lateral portion of the anterolateral left thigh. No tenderness in the calf was noted. He had full range of motion at the hip, ankle, and knee. Straight leg test was negative and pinprick sensation was decreased. Laboratory tests revealed leukocytosis with a white count of 23.1, slight anemia with a hemoglobin of 9.4. Chem 7 revealed BUN of 33 and creatinine of 4.1. Hemoglobin A1c was 8.0 and CPKwas 82. Coags were normal but ESR was elevated at 98. Radiographic studies included x-ray of the left femur, which revealed no fracture or dislocation. Chest x-ray on admission demonstrated a right dialysis catheter, low lung volumes with mild background pulmonary edema and cardiomegaly. Lower extremity ultrasound was negative for deep vein thrombosis. MRI of the left thigh was not obtained due to his ICD. CT scan of the left thigh showed heterogeneously decreased enhancement of the quadriceps particularly within the vastus lateralis; skin thickening with infiltration of the subcutaneous fat, possibly representing cellulitis in the appropriate clinical setting; diffuse atherosclerotic disease with moderate stenoses of the left femoral artery at the level of the adductor hiatus and the left popliteal artery (Figure 1).

A young woman with systemic lupus erythematosus and extensive mesenteric vasculitis involving small and medium vessels

History of the present illness The patient had 2 recent hospital admissions. Two months prior to her current presentation, she presented to the emergency department with a tooth abscess for which she underwent incision and drainage, and received a 1-week course of penicillin. One week later, she was admitted with a fever of 40.8°C and was noted to have tooth decay on panoramic radiographs without evidence of an abscess. She was treated with intravenous vancomycin and piperacillin tazobactam for 48 hours and then switched to oral clindamycin. Because of her elevated international normalized ratio (INR), she was unable to undergo tooth extraction prior to discharge. Two weeks later, she was readmitted with 4 days of recurrent fevers, malaise, diffuse arthralgias, and increased dyspnea with minimal exertion. Previous lupus exacerbations were characterized by arthralgias, rash, and hemolytic anemia. On this admission, laboratory evaluation revealed leukocytosis, worsening anemia and thrombocytopenia, creatinine of 0.7 mg/dl, alkaline phosphatase of 127 units/liter (normal value 111), spot urine proteinto-creatinine ratio of 1.47 (prior 1.1), low C3 and C4, and an increase in her double-stranded DNA by enzyme immunoassay from 120 to 768 IU/ml (normal value 30). She was empirically treated with vancomycin and piperacillin tazobactam given her recent tooth infection. The elevated alkaline phosphatase level prompted an abdominal ultrasound that showed multiple small hypoechoic areas in the spleen. An extensive infectious evaluation, including blood cultures, fungal serologies, knee arthrocentesis, magnetic resonance imaging of the lumbar spine, transthoracic and transesophageal echocardiograms, and computed tomography of the chest, abdomen, and pelvis, was negative. Her viral serologies were also unremarkable, other than evidence of IgG seropositivity for cytomegalovirus (CMV) with a negative viral load, consistent with prior exposure. Despite broad-spectrum antibiotics, she remained febrile. Her baseline prednisone dose of 12.5 mg was increased to 60 mg daily for possible lupus flare, after which she defervesced within 48 hours. Her thrombocytopenia was thought to be secondary to SLE-related idiopathic thrombocytopenic purpura because it resolved with high-dose steroids and intravenous immunoglobulin. She was discharged home 11 days after admission. The patient remained afebrile for 1 week at home. During this period she developed new-onset progressive upper abdominal pain with meals lasting 20–30 minutes. She denied associated constitutional symptoms, diarrhea, hematochezia, or melena.

Abstract 18689: Building a High-throughput Assay for Arrhythmogenic Cardiomyopathy Modifier Pathways in the Zebrafish

Introduction: The arrhythmogenic cardiomyopathies (ACs) are rare inherited heart muscle disorders with a high incidence of ventricular tachyarrhythmias and sudden death. One prominent feature of ACs is variable penetrance that implicates major genetic and epigenetic modifiers of disease expression. We sought to develop a robust model of AC in the zebrafish to enable high-throughput genetic and chemical screens for important modifier pathways in ACs. Methods and Results: We generated a zebrafish AC model using cardiac-specific expression of the 2057del2 mutation in human plakoglobin using the GAL4/UAS transactivation system. Plakoglobin mutant fish exhibit a unique phenotype with mild bradycardia, cardiomegaly, and peripheral edema in early adulthood and substantial mortality by the time maturity is reached (survival 45% vs 77% for WT p&lt;0.01). Using qPCR we confirmed an upregulation of natriuretic peptide b (nppb), in mutant expressing fish compared to non-expressing siblings (2 fold, p&lt;0.01). To adapt this line for high-throughput screening, we mated the founders with an existing nppb:luciferase reporter line that we have previously validated and is compatible with 96-well plates. Native nppb expression was strongly correlated with semi-automated luciferase data in this reporter line (average count/embryo ± SEM 202 ± 15 in mutant vs 117 ± 12 in WT, P&lt;0.001). We have gone on to screen a library of 4800 bioactive compounds for disease modifiers and to date have identified both suppressor compounds (10) and compounds that exacerbate the disease response (14). One suppressor of the disease phenotype (SB2) attenuates nppb expression, bradycardia and contractility in the mutant, while also improving survival at 28 days (survival 1.5 μ M SB2 62% and 74% 3 μ M SB2 vs untreated 46%, p&lt;0.01). Conclusion: These data support the feasibility of high-throughput approaches to the modeling of complex cardiovascular disorders in zebrafish, as well as the use of such models to identify novel chemical probes and candidate drug leads for major disease pathways. One compound identified in the screen has already demonstrated efficacy in long-term use in AC models. Ultimately, screens of type will enable personalized disease modeling for a broad range of human diseases.

An unusual case of duodenal beaking

A 35-year-old female presented with complaints of several episodes of malaena and frank blood in the stools for the past 1 year. The frequency of these episodes had increased in the past 2 months. The patient complained of extreme weakness and palpitations. There was no history of abdominal pain, nausea, vomiting or haematemesis. There was no history of fever, jaundice, weight loss or constipation. Physical examination was unremarkable except for the presence of severe pallor. Digital rectal examination revealed black tarry stools staining the glove. There was no palpable growth; first degree haemorrhoids were visible at the 3 o'clock position; no active bleeding was discernible. Her haemoglobin was 4 g dl−1, packed cell volume 12.5%, total leukocyte count 7900 cells mm−3and platelet count 5.34×105 mm−3. Peripheral smear showed features of anaemia. Total serum bilirubin was 2.5 mg dl−1 (direct bilirubin 1.2 mg dl−1). The rest of the liver function tests were within normal limits. HBsAg (the surface antigen of the hepatitis B virus) was negative and human immunodeficiency virus was non-reactive. A chest radiograph demonstrated mild cardiomegaly and the lung fields were clear. Colonoscopy was within normal limits. An upper gastrointenstinal endoscopy was performed, which showed a normal stomach and first part of duodenum. The endoscope could not be negotiated into the third part of the duodenum. A barium meal examination was done for further evaluation of the upper gastrointestinal tract. Two radiographs of an upper gastrointestinal barium series are shown (Figure 1). Figure 1 (a) Barium meal upper gatsrointestinal tract: smooth narrowing or “beaking” at the junction of the second and third parts of the duodenum, with mucosal folds running parallel to the lumen and a small C-loop of the duodenum. (b) Barium ...

Live three-dimensional transthoracic echocardiography of giant aorto-right ventricular tunnel

A 13-year-old male was referred to us for gradually progressive dyspnoea. The physical examination revealed a grade 4/6 continuous murmur with maximum intensity in the left parasternal area. A chest X-ray disclosed mild cardiomegaly and ECG was normal. The two-dimensional transthoracic echocardiogram (2D-TTE) in the apical five-chamber view showed a large tunnel-like structure arising from the right aortic sinus ( Panel A ; see Supplementary data online, Movie S1 ) and it …

Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome

BackgroundGiant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality.Case presentationWe report a case of giant chorioangioma with fetal hydrops, additionally complicated by severe anemia, mild cardiomegaly with hyperdinamic heart circulation and maternal mirror syndrome. Intrauterine blood transfusion and amniodrainage was performed at 29 weeks. Worsening of the fetal and maternal condition prompted us to proceed with delivery at 29 + 5 weeks. The newborn died 3 hours later due to pulmonary hypoplasia and hemodynamic failure. Maternal course was favourable, mirror syndrome resolved in the second day and the patient was discharged four days following delivery.ConclusionsIn the case described here, fetal condition got worse despite of the anemia correction and amniodrainage. Our outcome raises the issue whether additional intrauterine clinical intervention, as intersticial laser, should have been performed to stop further deterioration of the fetal condition when progressive severe hydrops develops.

Novel Cause of Sudden Cardiac Death

A 61-year-old black woman with hypertension, dyslipidemia, sickle cell trait, and α-thalassemia presented with a 3-week history of progressively altered mental status and seizures. Laboratory studies demonstrated multiple autoantibodies, including antinuclear antibody (speckled, titer 1:640) and anti-Smith and anti-ribonucleoprotein (both positive by enzyme immunoassay). Of note, her erythrocyte sedimentation rate was elevated at 86 mm/h (reference range 4–30 mm/h), her C-reactive protein was elevated at 4.2 mg/dL (0.0–0.5 mg/dL), and her serum IgG level was normal at 1510 mg/dL (751–1560 mg/dL). ECGs early in her hospitalization demonstrated normal sinus rhythm. Initial imaging studies including chest radiograph, echocardiogram, and thoracic computed tomography showed normal aortic root caliber with minimal arteriosclerosis and mild cardiomegaly. Two weeks after admission, follow-up imaging revealed slight dilation of the ascending aorta to 4 cm on chest computed tomography (Figure 1A) and minimal tortuosity of the descending aorta on chest radiograph, which was not explored further. Figure 1. A , Computed tomography of the chest with intravenous contrast 2 weeks after admission, demonstrating a slight (4 cm) dilation of the ascending aorta that was not noted previously. A indicates ascending aorta; D, …