Multimodality imaging and clinical significance of isolated congenital absence of the pericardium

Background. Congenital absence of the pericardium is a rare anomaly characterized by variable and non-specific clinical manifestations. The prevalence of this pathology in the population is approximately 0.0001 – 0.044% and it is almost three times more common in men. However, the real prevalence, including asymptomatic and undiagnosed cases, may be higher. Purpose – highlighting the echocardiographic and tomographic signs of isolated congenital absence of the pericardium. Materials and methods. A 42-year-old patient M. Echocardiography did not permit to obtain standard echo images via typical echocardiographic approaches due to poor acoustic window. Magnetic resonance imaging and computed tomography of the heart revealed marked left heart rotation and confirmed the most common variant of congenital absence of the pericardium, that is complete left-sided absence pericardial agenesis. Results. The presented case illustrates the non-specificity of clinical symptoms in patients with congenital absence of the pericardium. The electrocardiogram of the patient showed right axis deviation, right bundle branch block, poor R wave progression in the precordial leads. Chest X-ray in the anterior-posterior projection typically shows a pronounced displacement of cardiac silhouette to the left without deviation of the trachea, elongated left border of the heart and inability to delineate the right border, indicating left heart rotation. Echocardiography revealed an unusual orientation of the heart in the chest, i.e. the displacement of the heart (particularly, of the apical segments) to the left and backwards. In cases when the pericardium is absent on the right and on both sides, the right ventricle can indeed be enlarged, sometimes there is a paradoxical motion of the interventricular septum, severe tricuspid regurgitation as well as the swinging motion of the cardiac apex. Magnetic resonance imaging and computed tomography of the heart enable detection of the displacement of the heart to the left half of the chest with cardiac apex directed backwards, the interposition of lung tissue between the ascending aorta and the pulmonary artery trunk. Conclusions. Congenital absence of the pericardium is a rare pathology and thus it can be challenging in terms of diagnosis, while sometimes it remains undiagnosed. The combination of echocardiography with magnetic resonance imaging and/or computed tomography allows to accurately diagnose congenital absence of the pericardium and assess the risks associated with it. Most patients with complete unilateral or bilateral congenital absence of the pericardium have a favorable prognosis and do not require treatment.

Extraction of apex beat waveform from acoustic pulse wave by sound sensing system using stochastic resonance

With a sound sensing system using stochastic resonance (4SR), it became possible to obtain an acoustic pulse wave (APW)—a waveform created via a mixture of apex beat and heart sound. We examined 50 subjects who were healthy, with no underlying cardiovascular diseases. We could determine boundary frequency (BF) using APW and phonocardiogram signals. APW data was divided into two bands, one from 0.5 Hz to BF, and a second one from BF to 50 Hz. This permitted the extraction of cardiac apex beat (CAB) and cardiac acoustic sound (CAS), respectively. BF could be expressed by a quadratic function of heart rate, and made it possible to collect CAB and CAS in real time. According to heart rate variability analysis, the fluctuation was 1/f, which indicated an efficient cardiac movement when heart rate was 70 to 80/min. In the frequency band between 0.5 Hz and BF, CAB readings collected from the precordial region resembled apex cardiogram data. The waveforms were classified into five types. Therefore, the new 4SR sensing system can be used as a physical diagnostic tool to obtain biological pulse wave data non-invasively and repeatedly over a long period, and it shows promise for broader applications, including AI analysis.

Postinfarction posterobasal ventricular septal defect closure with a triple-layer patch

We present the case of a 65-year-old patient who developed a large posterobasal ventricular septal defect resulting from an extensive acute myocardial infarction involving the inferior and basal septum and wall. We repaired the interventricular lesion by verticalizing the cardiac apex to perform a left posterobasal ventriculotomy. We removed a great part of the residual infarcted tissue, leaving the residual scar in place. Our technique first involved creating a double-layer patch comprising heterologous pericardium and a non-collagen-impregnated Sauvage Dacron patch, fixed with single pledgeted U-stitches from the right side of the anterior septum; then we applied a third layer of heterologous pericardium on the left side of the septum in order to have only a pericardial surface in contact with blood on both ventricular sides. A running suture was used to complete the procedure from the middle to the posterior rim of the ventricular septal defect.

Recurrent croup in a young child: look beyond airways disease

We reported here a boy aged 5 years who presented for the evaluation of recurrent croup since infancy. On chest examination, breath sounds were reduced throughout the right lung field with a shifting of the trachea and cardiac apex to the right side. The chest radiograph showed a small right lung with decreased vascularity, hyperinflated left lung and mediastinum shifted towards the right side. Flexible bronchoscopy revealed tracheomalacia with left bronchomalacia due to external pulsatile compression. In CT angiogram, the right pulmonary artery (PA) was absent with dilated left PA. Echocardiography did not show any features of pulmonary arterial hypertension (PAH). Since the child was growing well, and there was no limitation of activity and evidence of PAH, he was managed conservatively and kept on follow-up. Though unilateral absent PA is a rare condition, it should be suspected in children with unilateral hypoplastic lung.

Isolated left ventricular apical hypoplasia in a young child

A 16-month-old, healthy, asymptomatic male child presented with a diagnosis of dilated cardiomyopathy. Cardiovascular examination and chest radiograph were normal. ECG revealed sinus rhythm, and the augmented vector left lead showed raised ST segment, T wave inversion and q waves. Echocardiography showed a globular left ventricle with notched cardiac apex, abnormal echogenicity in the left ventricular apical myocardium, single papillary muscle and normal biventricular function. Cardiac MRI scan revealed a globular left ventricle with fibrofatty changes and retraction of the apex, the papillary muscles closely approximated, and the right ventricle wrapping around the apex of the left ventricle. This is described as isolated left ventricular apical hypoplasia. Diagnosis of this rare entity can be made by MRI, and it has been diagnosed largely in adults. The pathophysiology and long-term outcomes are unknown. We characterise the echocardiography findings of this rare anomaly in a child for the first time in the literature.

Bifid cardiac apex in Pallister-Killian syndrome

Aim: Pallister-Killian syndrome (PKS) is a rare chromosomal disorder, caused by tissue-limited mosaicism for an isochromosome 12p. Prenatal diagnosis of PKS is generally incidental. Although clinical presentation of PKS varies, cytogenetic findings are constant, and include a tetrasomy of chromosome 12p. We report a case of prenatally diagnosed PKS with unique dysmorphic feature: bifid cardiac apex, a type of morphology that has not been documented before. Case presentation: Our patient was the 38-year-old pregnant woman who underwent amniocentesis. Cytogenetic analysis of amniotic fluid detected a mosaic karyotype with a supernumerary chromosome (SMC) in 64 % of fetal amniocytes. To determine the chromosomal origin of SMC, fluorescence in situ hybridization was performed and tetrasomy 12p was confirmed: mos 47,XY,+mar[18]/46,XY[10].ishi(12p)(8M16/SP6++,CEP12+,VIJyRM2196-). Ultrasound examination showed a fetus with cleft lip, echogenic focus in the left ventricle of the heart and shortened fetal long bones. After receiving a genetic counseling for PKS, the woman requested a termination of pregnancy. A postmortem inspection of the fetus revealed a complex heart anomaly that includes bifid cardiac apex and ventricular septal defect. Conclusions: This report expands the clinical manifestations of PKS with a unique feature of bifid cardiac apex, and highlights the targeted prenatal diagnosis of PKS if specific ultrasound markers are present.

108 Uncommon cardiac fatty distribution: a case report

Background Fatty masses of the heart are relatively uncommon. This report is about a rare case of extensive fat infiltration along the apical interventricular septum that causes separation of the right ventricular apex from left ventricular apex, simulating a bifid cardiac apex. Case summary The patient was a 58-year-old female who was admitted to the hospital because of palpitations and chest pain. A trasnsthoracic echocardiogram was performed and it showed a thickenned anterior pericardium so a cardiovascular magnetic resonance (CMR) was performed. CMR revealed a large amount of epicardial and pericardial fat without adipose tissue inside the right ventricle wall. In the cardiac apex this fat seemed a lipoma however CMR demonstrated the fat was not capsulated and besides, it extended, as if it were an infiltrative disorder, in the cardiac apex between both ventricles. Patient was discharged with an implantable loop recorder (ILR) in order to ruled out ventricular arrhythmia. During a two year follow-up, ILR has shown several symptomatic supraventricular paroxysmal tachycardia episodes and no other arrhythmic events have been reported. Also, the CMR has been repeated and it has shown similar results. Discussion Fatty masses of the heart are relatively uncommon. Among those masses are included cardiac lipomas, lipomatous infiltration of the right ventricle, arrhythmogenic right ventricular dysplasia (ARVD) and lipomatous hypertrophy of the interatrial septum. The findings in the CMR of our patient do not fulfill the criteria of the aforementioned disorders. Our patient shows a pattern of unusual fatty infiltration pattern of unclear etiology. The prognostic value of this type of heart disease is unknown. In our patient, although the follow-up has not been very long, it does not seem to have had any relevant consequences, so far. Conclusion This is a rare case of a patient with a large amount of epicardial and pericardial fat that seems to infiltrate between both ventricular apex, as a bifid cardiac apex. It is apparently asymptomatic. Abstract 108 Figure. CMR-Cardiac-fatty_EECHO-2019

Infective endocarditis due to Granulicatella elegans presenting with musculoskeletal symptoms

A 62-year-old man with essential hypertension and right L4-L5 hemilaminectomy was referred to rheumatology for evaluation of severe arthralgia and myalgia for 12 months. Review of symptoms was significant for night sweats and 20 pounds unintentional weight loss. Physical examination was significant for holosystolic murmur best heard at the cardiac apex of unclear chronicity. Laboratory investigations revealed elevated inflammatory markers, white blood cell count and B-type natriuretic peptide. Transoesophageal echocardiogram showed flail posterior mitral leaflet with severe mitral regurgitation and two vegetations (2.5×1 cm and 1.6×0.3 cm). Abdominal CT showed new focal splenic infarcts, and a brain MRI revealed subacute infarcts, consistent with the embolic phenomenon. Blood cultures grew Granulicatella elegans. The patient underwent mitral valve replacement surgery followed by 6 weeks of parenteral therapy with vancomycin and gentamicin, with full recovery at a 3-month follow-up.

Uneventful survival of a rural child after penetrating cardiac injury by a thorn: a case report

Background Paediatric penetrating cardiac injury is extremely rare, precluding published management guidelines, therefore warranting a case-by-case approach with learning points gleaned from each case. Case summary A 7-year-old boy presented to a rural hospital with a stab wound to the chest by a Withaak (Vachellia tortilis) thorn. The patient was haemodynamically stable on presentation, but a 2 cm subcutaneous, pulsatile mass was present at the cardiac apex. Echocardiography revealed a foreign body penetrating from the apex into the heart, with evidence for a fistula between a cardiac chamber and the pulsatile mass. Angiography confirmed the existence of the fistula between the right ventricle (RV) and the pulsatile mass. A controlled extraction under general anaesthaesia via median sternotomy was performed in-theatre, with blood products and cardiac bypass on standby. The patient recovered without complications and was discharged after 4 days. Discussion Our case illustrates the limitations of echocardiography in identifying the precise anatomical definition of penetrating cardiac injuries. Angiography is therefore indicated in such cases. The injury to the RV and the haemostatic effects of the in situ thorn were favourable prognostic factors. We believe that the mortality risk reduction of extraction under full control warrants the minor morbidity of a median sternotomy.