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]

  Because the coronary arteries that feed the heart muscle with oxygen rich blood are not getting enough blood, fatigue, chest pain (angina), shortness of breath (dyspnea), decreased tolerance to exercise, and fainting(syncope) can occur. [chd-uk.co.uk]

• 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]

• Constipation

  Lightwood in 1952 described mild infantile hypercalcemia with failure to thrive, anorexia, vomiting, constipation, polyuria, thirst, recurring dehydration, and muscular hypotonia.1 The syndrome of severe idiopathic hypercalcemia was described by Fanconi [healio.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]

  That murmur led to doctors diagnosing Amelia with Supravalvular aortic stenosis, a heart disease that affects 1 in 20,000 children at birth. [globalgenes.org]

  […] 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]

• 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]

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

  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]

  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]

• Heart Murmur

  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]

  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]

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

• Ejection Murmur

  Clinical findings included an aortic systolic ejection murmur, absence of an FULL TEXT [annals.org]

  Operative Steps Figure 1 An asymptomatic, 5-year-old, 18-kg boy known by genetic testing to have Williams syndrome on physical examination had a IV/VI harsh systolic ejection murmur and no diastolic murmur. [ctsnet.org]

  Aortic Stenosis Murmur (Crescendo-Decrescendo Ejection Murmur) Recording provided by Jules Constant, MD. [merckmanuals.com]

  An easily heard systolic, crescendo-decrescendo (i.e., 'ejection') murmur is heard loudest at the upper right sternal border, at the 2nd right intercostal space, and radiates to the carotid arteries bilaterally. [checkorphan.org]

• 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]

• Withdrawn

  The balloon will be briefly inflated to open up the narrow valve, then deflated and withdrawn. Sometimes, two catheters and balloons are used. [chop.edu]

  After 3 days of LVAD support, there was no substantial recovery of LV function and the patient died when LVAD support was withdrawn. [journals.lww.com]

• Psychomotor Retardation

  The Williams-Beuren syndrome is a rare genetic disease characterized by: (a) typical facial features; (b) psychomotor retardation with a specific neurocognitive profile; (c) cardiovascular condition and (d) likely transient hypocalcemia in infancy. [ncbi.nlm.nih.gov]

  The syndrome was first described in 1930 by Mencarelli, and its association with other facial defects and psychomotor retardation was established in 1961 [ 3 ]. [ispub.com]

  Mencarelli first described this condition in 1930, and its association with other facial defects and psychomotor retardation was established in 1961. 1 In the same year, McGoon et al, 2 from the Mayo Clinic, proposed widening the aorta diameter with a [revespcardiol.org]

(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]

• 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]

  With marked peripheral pulmonary artery stenosis coexisting, the EKG may also show right ventricular hypertrophy. [healio.com]

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

• 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]

  CT / MRI Apart from showing a narrowed valve annulus and/or narrowing cross-sectional aortic segment it may also show: cardiomegaly with left ventricular hypertrophy post-stenotic dilated segment of the aortic lumen In MR imaging, velocity encoded phase [radiopaedia.org]

  The EKG generally reveals left ventricular hypertrophy when the obstruction is severe and is similar to that seen in other forms of obstruction to left ventricular outflow. [healio.com]

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]

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]

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]

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]

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]

[…] begins in the bicuspid and rheumatic valve in the 4th decade but not until >65 in tricuspid In rheumatic disease, the aortic valve commissures usually fuse whereas they do not in the degenerated tricuspid valve Differentiating Causes of Aortic Stenosis Etiology [learningradiology.com]

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]

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]

(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]

Your child's cardiologist may recommend that antibiotics be given to prevent bacterial endocarditis after discharge from the hospital. [stanfordchildrens.org]

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]