Homozygous Familial Hypercholestrolaemia is a metabolic disorder which usually presents with early cardiac disease ranging from premature ischaemic heart disease, including myocardial infarction to aortic root stenosis, but rarely it may present with [ncbi.nlm.nih.gov]

• Fatigue

  A 23-year-old woman with a history of medically treated endocarditis presented with progressive fatigue and dyspnea on exertion. [ncbi.nlm.nih.gov]

  He had been well, except for a recent infection of the upper respiratory tract, until five weeks prior to admission when he developed fatigue, dyspnea on exertion, nocturnal cough, orthopnea, paroxysmal nocturnal dyspnea, pleuritic pain of the anterior [jamanetwork.com]

  Signs and symptoms of severe defects in newborns include Rapid breathing Cyanosis - a bluish tint to the skin, lips, and fingernails Fatigue Poor blood circulation Many congenital heart defects cause few or no signs and symptoms. [icdlist.com]

  The patient was asymtomatic, referring fatigue on exertion and occasional syncope. [scielo.br]

• Disturbance of Growth

  Our novel three-sinus enlargement technique is suitable for treating each type of SVAS and is a useful method for a baby particularly less than 10 kg without disturbing the growth of the ascending aorta. [ncbi.nlm.nih.gov]

• Hypothermia

  All the patients were operated on using cardiopulmonary bypass and hypothermia. The associated anomalies were corrected simultaneously. There were no early and late deaths. Because of restenosis one child was reoperated. [ncbi.nlm.nih.gov]

  One patient with diffuse stenosis that involved the ascending aorta, the aortic arch, and the descending aorta immediately at the emergence of the left subclavian artery required 35 minutes of total circulatory arrest in deep hypothermia, and there were [revespcardiol.org]

  Surgery was performed with cardiopulmonary bypass (CPB), bicaval cannulation and ascending aorta, systemic and topical moderate hypothermia, aortic cross-clamping and administration of intermittent hypothermic blood cardioplegic solution every 30 minutes [scielo.br]

• High Fever

  A 27 year-old man undergoing successful patch aortoplasty for supravalvular aortic stenosis 12 years before admission had a high fever, infectious signs in blood laboratory data, and congestive heart failure. [ncbi.nlm.nih.gov]

• Death in Childhood

  Undiagnosed heart disease leading to sudden unexpected death in childhood: A retrospective study. Pediatrics 2011;128:e513-20. 3. Williams JC, Baratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-8. 4. [annalspc.com]

• Heart Disease

  Homozygous Familial Hypercholestrolaemia is a metabolic disorder which usually presents with early cardiac disease ranging from premature ischaemic heart disease, including myocardial infarction to aortic root stenosis, but rarely it may present with [ncbi.nlm.nih.gov]

  […] defect (Medical Encyclopedia) [ Read More ] Heart Valve Diseases Also called: Valvular heart disease Your heart has four valves. [icdlist.com]

  "Congenital Heart Disease." Congenital Heart Disease. Humana Press, 2006. 129-156. Lowery, Mary C., et al. "Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients." [en.wikipedia.org]

• Heart Murmur

  A 36-year-old female was admitted to hospital exhibiting chest pain, dyspnea, and a heart murmur on the right upper sternal border, radiating to both carotid arteries. [ncbi.nlm.nih.gov]

  The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem. [icdlist.com]

  His heart murmur was found at seven years of age. He was in the three percentile in both height and weight. [healio.com]

• Systolic Murmur

  A 53-year-old man was referred to our Institution for evaluation of a systolic murmur and congestive heart failure. He had undergone elective ascending aortic replacement one month previously due to acute type A aortic dissection. [ncbi.nlm.nih.gov]

  The murmur associated with it is systolic murmur and is similar in character to valvular aortic stenosis murmur but commonly present at 1st Intercostal space (ICS) on the right. [en.wikipedia.org]

  Diagnostic methods The discovery of a systolic murmur may prompt a cardiological examination, potentially showing ventricular hypertrophy. [orpha.net]

  The chest revealed a Grade III systolic murmur heard best at the second left intercostal space and radiated to the neck. The child was hyperactive and very friendly. [healio.com]

• Pulsus Parvus et Tardus

  This is sometimes referred to as pulsus parvus et tardus. There may also be a noticeable delay between the first heart sound (on auscultation) and the corresponding pulse in the carotid artery (so-called 'apical-carotid delay'). [checkorphan.org]

  parvus et tardus Diminished aortic component of 2nd heart sound Sudden death in severe stenosis after exercise Diminished flow in coronary arteries causes ventricular dysrhythmias and fibrillation Decompensation leads to left ventricular dilatation and [learningradiology.com]

  Palpable signs include carotid and peripheral pulses that are reduced in amplitude and slow rising (pulsus parvus et tardus) and an apical impulse that is sustained (thrusts with the 1st heart sound [S 1 ] and relaxes with the 2nd heart sound [S 2 ]) [merckmanuals.com]

• Narrow Pulse Pressure

  Other peripheral signs include: Sustained, heaving apex beat, which is not displaced unless systolic dysfunction of the left ventricle has developed A precordial thrill Narrowed pulse pressure Electrocardiogram: Although aortic stenosis does not lead [checkorphan.org]

• Paresis

  After cardiac catheterization was performed, he presented a fever and right side paresis. The echocardiogram showed multiple vegetations in the ascendant aortic arch and the supraortic arteries. The blood cultures reported S. parasanguis. [ncbi.nlm.nih.gov]

(See Workup.) The anatomic diagnosis of SVAS can reliably be made from 2-dimensional (2D) echocardiography that uses multiple views, including parasternal, apical long-axis, and suprasternal (see Workup). [emedicine.medscape.com]

• Myocardial Fibrosis

  A 2-year-old patient with diffuse supravalvular aortic stenosis and the Williams-Beuren syndrome at autopsy was found to have dissection of the ascending aorta in addition to severe coronary artery disease and microfocal myocardial fibrosis. [ncbi.nlm.nih.gov]

• Left Ventricular Hypertrophy

  Individuals with significant supravalvular AS chronically may develop left ventricular hypertrophy and also are at risk of developing coronary artery stenosis. [en.wikipedia.org]

  The EKG demonstrated left ventricular hypertrophy. The chest film revealed no abnormalities; the serum calcium was not done. Findings from chromosome studies were normal. [healio.com]

  EKG showed strain pattern in lateral leads V5 - V6 suggestive of left ventricular hypertrophy. The patient was admitted and scheduled for cardiac imaging studies. [jpma.org.pk]

• Biventricular Hypertrophy

  The biventricular hypertrophy that accompanies these lesions increases myocardial oxygen consumption and compromises oxygen delivery. In addition, these patients often have direct, multifactorial compromise of coronary blood flow. [ncbi.nlm.nih.gov]

To our knowledge, the present case represents one of the longest follow-up routines in the English language literature of surgical treatment of supravalvular aortic stenosis. [ncbi.nlm.nih.gov]

Due to its rarity, surgical treatment of this clinical entity is still a matter of debate because of the variable degree of aortic narrowing, presence of multilevel obstruction, and age at presentation, all factors that strongly influence the disease prognosis [ncbi.nlm.nih.gov]

Pulmonary artery stenosis usually improves and only rarely limits prognosis. Received September 28, 1989. Revision received December 20, 1989. Accepted January 10, 1990. [content.onlinejacc.org]

This has major implications for genetic counseling, cardiac evaluation and for the prognosis of the patient and family. We evaluated 21 members of a 3-generation, 34-member family in which 12 have SVAS documented by ultrasound (US). [nature.com]

His 19-year-old sister had also been diagnosed with PPS, and his 43-year-old mother was known to have a harsh systolic cardiac murmur of unknown etiology. [ncbi.nlm.nih.gov]

Etiology SVAS is caused by a mutation in the elastin gene ( ELN ), which is located on chromosome 7q11.23. In nearly all cases, ELN mutations disrupt elastin protein synthesis, resulting in a production deficit. [orpha.net]

Fellers FX, Schwartz R: Etiology of severe form of idiopathic hypercalcemia of infancy: defect in vitamin D metabolism. New Eng J Med 259:1050-1058, 1958. 4. Williams JCP, Barralt-Boyes BG, Lowe JB: Supravalvular aortic stenosis. [healio.com]

Complications of SVAS also include progressive coronary osteal stenosis, infective endocarditis, and sudden death. [6, 7] Etiology The precise etiology of SVAS is unknown. [emedicine.medscape.com]

Author information 1 Section of Pediatric and Congenital Cardiac Surgery, Department of Cardiac, Thoracic and Vascular Sciences, University of Padova, School of Medicine, Padova, Italy. 2 Section of Biostatistics, Epidemiology and Public Health, Department [ncbi.nlm.nih.gov]

Summary Epidemiology The incidence of SVAS is estimated at approximately 1 in 25 000 births and the mean prevalence in the general population at 1/7 500. [orpha.net]

(See Epidemiology and Etiology.) A less common presentation of SVAS is a familial form caused by autosomal dominant inheritance. Like the sporadic form, it is not a part of Williams syndrome. [emedicine.medscape.com]

[…] syndrome is characterised by cardiovascular disease, distinctive facies, connective tissue abnormalities, intellectual disability, a specific cognitive profile, unique personality characteristics, growth abnormalities and endocrine abnormalities. [ 1 ] Epidemiology [patient.info]

In this article, we review both the pathophysiology of congenital supravalvular aortic stenosis and the literature regarding sudden death in association with sedation and anesthesia. [ncbi.nlm.nih.gov]

Pathophysiology [ edit ] Supravalvular aortic stenosis is due to diffuse or discrete narrowing of ascending aorta. [en.wikipedia.org]

Age-related changes in venticular-arterial coupling: pathophysiologic implications. Heart Fail Rev 2002;7:51–62 10. Stamm C, Li J, Ho SY, Redington AN, Anderson RH. [journals.lww.com]

Pathophysiologically, the change causes loss of elastin fibers, which are sparse and spatially disorganized. [scielo.br]

CONCLUSION: Brom aortoplasty promotes restoration of normal aortic root geometry and relief of coronary ostial stenosis, which is important in preventing myocardial ischemia. Computed tomography imaging is our preferred diagnostic modality. [ncbi.nlm.nih.gov]

This case highlights the need for heightened clinical suspicion of rare but treatable anomalies for prevention of SCD. [annalspc.com]

SVAS shows variable penetrance within families but the progressive nature of the disorder in some cases, makes identification of the molecular lesions important for future preventative treatments. [nature.com]

This is a result of the increasing calcification of the valve preventing it from "snapping" shut and producing a sharp, loud sound. [checkorphan.org]

Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the [vipoa.org]