Myriad manifestations of Williams syndrome

4 months male child presented with failure to thrive. On general examination child had normal O2 saturation with characterstic elfin facies. Further evaluation of the patient showed major manifestations of Williams syndrome in form of supravalvar aortic stenosis, branched pulmonary artery stenosis along with cardiomyopathy. Although the entity is known, this article shows comprehensive diagnostic workup with the aid of multimodality imaging techniques. The genetic diagnosis of Williams syndrome was confirmed using fluroscent in situ hybridisation techniques (FISH). In this patient most of the manifestations of elastin vasculopathy were noted in the form of involvement of ascending aorta, pulmonary arteries and myocardium. We also want to emphasis the importance of echocardiography in newborn patients with dysmorphic facies as Williams syndrome can be easily missed in neonatal period.A 4 month old male child presented with symptoms of heart failure and poor weight gain. On examination, O₂ saturation in both limbs was 99% and there was no significant blood pressure difference in all four limbs. He had a characterstic ‘elfin facies’ with a sunken nasal bridge, a long philtrum, wide mouth, prominent lower lip, small chin and low set ears (Fig. 1). 2D echocardiography showed situs solitus, concentric left ventricular hypertrophy with mild narrowing in the supravalvular region (Fig. 2) with systolic gradients of 26 mm Hg across the segment (Fig. 3) (Online Video 1). The right pulmonary artery (RPA) after its origin showed significant short segment stenosis with peak systolic gradients of 32 mmHg. The left pulmonary artery (LPA) after its origin showed mild narrowing (Figs. 4 and 5) (Online Video 2). Cardiac CT demonstrated supravalvular aortic stenosis (SVAS) with hour glass appearance of the aorta (Figs. 6 and 7) with bilateral pulmonary artery stenosis (PAS) involving RPA more than LPA (Figs. 8 and 9). Fluorescent in-situ hybridization (FISH) studies (Fig. 10) showed heterozygous deletion of elastin gene (Chromosome 7q11.23) and confirmed the diagnosis of Williams syndrome (WS).Open in a separate windowFig. 1Characterstic elfin facies.Open in a separate windowFig. 22D echocardiography showing mild narrowing in the supravalvular region.Open in a separate windowFig. 3Doppler showing gradients of 26 mm Hg across narrowed supravalvular region.Open in a separate windowFig. 42D echocardiography with color Doppler showing bilateral PAS.Open in a separate windowFig. 5Doppler investigation showing peak systolic gradients of 32 mmHg across the narrowed segment of RPA.Open in a separate windowFig. 6Cardiac CT with 3D reconstruction showing supravalvular aortic stenosis (SVAS).Open in a separate windowFig. 7Cardiac CT (Coronal section) showing SVAS.Open in a separate windowFig. 8Cardiac CT (Transverse section) showing bilateral PAS.Open in a separate windowFig. 9Cardiac CT with 3D reconstruction showing bilateral pulmonary artery stenosis (PAS) involving RPA more than LPA.Open in a separate windowFig. 10Fluorescent in-situ hybridization studies showing deletion of elastin gene (Chromosome 7q11.23).Supplementary data related to this article can be found online at http://dx.doi.org/10.1016/j.ihj.2015.02.026.The following are the Supplementary data related to this article:Video 1: Subcostal view showing turbulence in supravalvar region of aorta and the branched pulmonary arteries.Click here to view.^{(1.3M, mp4)}Video 2: High parasternal view showing confluent pulmonary arteries with turbulence across the branched pulmonary arteries.Click here to view.^{(853K, mp4)}WS is a genetic disorder occurring with a frequency of 1 in 20,000–50,000 live births. Manifestations of WS include congenital heart disease, hypertension, dysmorphic facial features, infantile hypercalcaemia and mental retardation. Apart from supravalvular AS and branched PA stenosis other cardiac abnormalities observed are bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, ventricular or atrial septal defects. In neonates, cardiovascular symptoms were evident in 47% of WS children.1 PA stenosis often tends to regress spontaneously and SVAS tends to progress with time. In this patient most of the manifestations of elastin vasculopathy were noted in the form of involvement of ascending aorta and pulmonary arteries. The concentric left ventricular hypertrophy observed in our patient may be an expression of hypertrophic cardiomyopathy which is known to be associated with WS.1 In neonatal period all newborn patients with dysmorphic facies should be evaluated with echocardiography so that the cardiac abnormalities are not missed.     

Subvalvular apparatus and adverse outcome of balloon valvotomy in rheumatic mitral stenosis

Background

Balloon mitral valvotomy (BMV) is a well-established therapeutic modality for rheumatic mitral stenosis (RMS). However, there are chances of procedural failure and the more ominous post-procedural severe mitral regurgitation. There are only a few prospective studies, which have evaluated the pathogenic mechanisms for these major complications of BMV, especially in relation to the subvalvular apparatus (SVA) pathology.

Methods

All symptomatic patients of RMS suitable for BMV by echocardiographic criteria in a span of 1 year were selected. In addition to the standard echocardiographic assessment of RMS (Wilkins score and score by Padial et al.), a separate grading and scoring system was assigned to evaluate the severity of the SVA pathology. The SVA score was ‘I’, when none of the two SVAs had severe disease, ‘II’ when one of the two SVAs has severe disease, and ‘III’ when both SVAs had severe disease. With these scoring systems, the outcomes of BMV (successful procedure, failure, and post-procedural mitral regurgitation) were analyzed. Emergency valve replacement was performed depending on clinical situation, and in cases of replacement, the pathology of the excised mitral valves were compared with echocardiographic findings.

Results

Of the 356 BMVs performed in a year, 43 patients had adverse outcomes in the form of failed procedure (14 patients) and mitral regurgitation (29 patients). Forty-one among these had a SVA score of III. The sensitivity and specificity of the MR score was lesser than the SVA score (sensitivity 0.34 vs. 1.00, specificity 0.92 vs. 0.99, respectively). The mitral valvular morphology in 39 patients who underwent post-procedural valve replacements correlated well with echocardiography findings.

Conclusion

It is important to assess the degree of SVA pathology in the conventional echocardiographic assessment for RMS, as BMV would have adverse events when both SVAs were severely diseased.     

Submitral left ventricular pseudoaneurysm after mitral valve replacement: early diagnosis and successful repair

Late left ventricle (LV) rupture with pseudoaneurysm after mitral valve replacement is rare. We report its early diagnosis by advanced technologies, e.g. MRI and successful repair of a type I AV rupture through left atrial approach.     

Transcatheter closure of ruptured sinus of Valsalva aneurysm using the Amplatzer duct occluder in a critically ill post-CABG patient

Ruptured sinus of Valsalva aneurysm is a rare but well recognized clinical entity. These patients develop congestive heart failure due to biventricular increases in volume as a result of sudden aortocardiac shunting. Traditionally, surgical repair has been the mainstay of therapy. We report a case of a ruptured sinus of Valsalva aneurysm that was successfully closed percutaneously using the Amplatzer duct occluder in a critically ill patient operated on previously for coronary artery disease and presenting with acute congestive heart failure.     

Isolated bilateral coronary ostial stenosis--an uncommon presentation of aortoarteritis

Cardiac fibromas are benign tumours, often diagnosed in childhood, but rarely they may be diagnosed in adults or the elderly. We present an interesting case of a middle-aged lady presenting with exertional chest pain and breathlessness, who was found to have a heavily calcified mass within the myocardium. With a previous history of chest trauma, a calcified myocardial haematoma was initially suspected. Complete surgical excision led to a total resolution of symptoms. Histological examination confirmed the diagnosis of a cardiac fibroma. Complete excision of cardiac fibromas, where possible, is advised and is associated with excellent survival.     

Long-term follow up and prognostic factors for cryotherapy of malignant liver tumors

BACKGROUND: The aims of this study were to determine the long-term outcomes of cryotherapy in patients with hepatic malignancies and to describe prognostic factors that may affect survival. METHODS: Ninety-eight patients (56 colorectal metastases, 28 noncolorectal metastases, 14 hepatocellular carcinomas) undergoing hepatic cryosurgery were identified in a retrospective review from January 1994 to December 2002. RESULTS: Overall survival rates at 1-, 2-, 3-, and 5- years were 81%, 62%, 48%, and 28%, respectively(median survival, 33 months) compared to a hepatic recurrence-free survival of 76%, 42%, 24%, and 16%, respectively (median hepatic recurrence-free survival, 20 months). Median follow-up was 54 months. Three hundred lesions were cryoablated; the recurrence per cryolesion was 5%. Major complications were the lone factor that significantly reduced overall (P=.0005) and hepatic recurrence-free survival (P=.0005). The number of lesions (TNL) and total estimated area (TEA) cryoablated did not significantly affect overall or hepatic recurrence-free survival. Additionally, outcomes depending on tumor type were not significantly different. CONCLUSIONS: Cryotherapy is an important option for a wide range of unresectable malignant hepatic tumors and provides the potential for long-term survival. Patients with major complications at the time of cryotherapy suffer a decreased overall and hepatic recurrence-free survival.     

Congenital and inherited ophthalmologic abnormalities

Objective : To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities.Methods : Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded.Result : Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest).Conclusion : Upto 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.     

Health care delivery system and surgical education in India

In India health care delivery and medical education are largely governmental functions. India cannot afford a national health service. However, it has a national health policy based on the primary health care approach, with emphasis on rural health in order to achieve the World Health Organization's goal of Health for All by 2000 ad. Health care delivery is represented by the public sector as well as the private sector. Nearly 80% of the health facilities, both public and private, are concentrated in the urban areas. Hence despite its best efforts, the government has not been able to make medical education need-based. The postgraduate surgical trainees are not exposed to rural work owing to inadequate facilities and resources in rural areas. Surgical residents get their training in teaching hospitals located in urban areas. Most of the public sector teaching hospitals are well equipped to impart training to the residents according to the guidelines of the Medical Council of India (MCI), the apex governing body. However, with the rapid advancement in medical technology over the last decade, the government is finding it increasingly difficult to keep these teaching hospitals up-to-date. Of late, some of the sophisticated private sector hospitals are therefore sharing the onus of surgical education, especially at the subspeciality level. Thus despite the good intentions of government planning a two class system of health care delivery has come into being and a two class system of medical education is foreseeable.

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Resumen En la India la atención de la salud y la educación médica son fundamentalmente funciones del gobierno, y aunque la India no posee la capacidad para mantener un sistema nacional de salud, sí tiene una política nacional de salud basada en el enfoque de la atención primaria, con énfasis en la salud rural, con el fin de alcanzar el objetivo proquesto por la Organización Mundial de la Salud de salud para todos en el año 2.000. La provisión de servicios de salud está representada tanto en el sector público como en el privado. Cerca del 80% de los servicios de salud, tanto públicos como privados, se hallan concentrados en las áreas urbanas, y es por ello que, a pesar de sus mejores esfuerzos, el gobierno no ha sido capaz de proveer la base adecuada para los programas de educación médica. Los médicos en adiestramiento de postgrado no tienen exposición al trabajo rural debido a los madecuados recursos y facilidades que prevalecen en las áreas rurales. Los residentes de cirugía obtienen su adiestramiento en los hospitales de enseñanza ubicados en las áreas urbanas. La mayoría de los hospitales docentes se encuentran bien equipados para impartir enseñanza a los residentes de acuerdo con las directrices del Consejo Médico de la India, que es el máximo cuerpo de gobierno en este campo. Sin embargo, con el rápido avance de la tecnología en el último decenio, el gobierno se enfrenta a crecientes difucultades para mantener actualizados a estos hospitales docentes.Ultimamente, algunos de los más sofisticados hospitales del sector privado también asumen parte de la carga de la educación quirúrgica, especialmente en el nivel de las subespecialidades.Por consiguiente, a pesar de los buenos propósitos del gobierno, se ha creado un sistema dual de provisión de servicios de salud y se vislumbra también un sistema dual de educación médica.

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Résumé En Inde, l'administration des soins et l'enseignement en médecine sont réglementée essentiellement par le gouvernement. Même si l'Inde ne peut se permettre d'avoir un véritable service national de santé, le pays a, cependant, une politique de santé nationale, basée sur l'administration de soins primaires. Elle est essentiellement axée sur la médecine rurale de façon à essayer d'atteindre le but de L'O.M.S. de Soins pour tout le monde en l'an 2000. L'administration des soins est assurée à la fois par les secteurs publics et privés. Presque 80% des centres de soins, publics comme privées, sont concentrés dans les villes. Ainsi, malgré les meilleurs efforts, le gouvernement n'a pas pu assurer une formation médicale adaptée aux vrais besoins. Les médecins diplômés ne sont pas forcément habitués aux conditions de travail rurales en raison d'une insuffisance évidente de locaux et de ressources. Les résidents sont formés forcément dans les hôpitaux urbains. La plupart des hôpitaux universitaires sont suffisamment bien équipés pour fournir de l'enseignement aux résidents selon les recommandations du Medical Council of India, la vraie haute instance. Cependant, avec la rapidité des avances technologiques qui ont caractérisé ces dernières décades, il devient de plus en plus difficile de maintenir un haut niveau d'enseignement dans tous les hôpitaux. Pour ces raisons, dernièrement, des établissements privés se sont joints aux hôpitaux gouvernementaux pour assurer le rôle d'enseignement, surtout en ce qui concerne certaines spécialités pointues. Ainsi, en dépit des intentions du gouvernement, un système de santé à deux classes a vu le jour, et il est probable que cette dualité se poursuive à l'avenir en ce qui concerne l'enseignement et la formation en médecine.