Pulmonary valve stenosis is responsible for approximately 1-5% of all congenital heart diseases (CHDs) [1] [2], and appears either as an isolated defect or as a constitutive feature of Noonan syndrome, an autosomal dominant genetic disease characterised by hypertrophic cardiomyopathy, atrial septal defect (ASD) and stenosis of the pulmonary valve [1] [3]. The clinical presentation is usually asymptomatic, as stenosis causes minimal obstruction of the pulmonary outflow tract in the majority of patients throughout childhood and adulthood [4] [5]. However, significant obstruction and consequent hypertrophy of the right ventricle can result in volume overload and the development of fatigue, dyspnea, and syncope [4] [5] [6]. Pregnancy is one of the conditions that exerts a higher load on the right ventricle and is associated with a risk of atrial arrhythmias with many women being diagnosed with pulmonary valve stenosis during pregnancy [1] [4]. On the other hand, individuals suffering from Noonan syndrome exhibit numerous congenital abnormalities in addition to CHD, most prominent being short stature, feeding difficulties, failure to thrive, cryptorchidism (either unilateral or bilateral), and a delayed onset of puberty [3].

• Atrial Septal Defect

  Abstract The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. [ncbi.nlm.nih.gov]

• Fatigue

  Symptoms may include chest pain, fainting, shortness of breath, fatigue and a bluish tint to the skin (cyanosis). Learn more about a minimally invasive treatment option for pulmonary valve stenosis and regurgitation [emoryhealthcare.org]

  In moderate and severe pulmonary valve stenosis (if the gradient exceeds 80 mm Hg) there is a dyspnea during fatiguing (without heart failure). [remedyland.com]

  […] usually have symptoms shortly after birth, which may include: cyanosis (bluish tinge to the skin) lack of energy pale, cool or clammy skin In rare cases, older children can have symptoms that include: feeling unable to exercise heavy and rapid breathing fatigue [childrenshospital.org]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 12, 2019 [patientslikeme.com]

  In more severe cases, additional symptoms such as fatigue and fainting may be present, which worsen with exercise or activity and may require surgery to correct. [uabmedicine.org]

• Hyperthermia

  The present case suggests that the use of volatile agents that could trigger malignant hyperthermia should be avoided wherever possible. [ncbi.nlm.nih.gov]

• Exertional Dyspnea

  He became physically active and was free of exertional dyspnea at the 12-month follow-up. [ncbi.nlm.nih.gov]

  dyspnea 労作性呼吸困難 external cardiac massage (ECM)非開胸心マッサージ extraanatomical bypass非解剖学的バイパス extracorporeal circulation対外循環 extremity［四］肢、手足 f Fabry's diseaseファーブリ病 false aneurysm偽［性］動脈瘤 false lumen偽腔 familial hyperlipidemia家族性高脂［質］血［症］ family history家族歴 [tokyo-med.ac.jp]

• Heart Disease

  Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. [ncbi.nlm.nih.gov]

  Valvular heart disease. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 75. Marelli AJ. Congenital heart disease in adults. In: Goldman L, Schafer AI, eds. [medlineplus.gov]

• 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]

  This paper describes an asymptomatic 6-year-old boy who was referred because of a heart murmur. An electrocardiogram and two-dimensional echocardiography revealed right heart volume overload. [ncbi.nlm.nih.gov]

  Moderate to severe PS is most often diagnosed during childhood due to the loud heart murmur associated with the condition. What are the symptoms? If PS is mild, there probably won't be any noticeable symptoms. [heart.org]

  In most children, the only symptom is a heart murmur, but a bluish color to the skin (cyanosis) and signs of right heart failure (such as fatigue and shortness of breath) are possible. [msdmanuals.com]

  How Ohio State diagnoses pulmonary valve stenosis Pulmonary valve stenosis is often diagnosed when a physician hears an abnormal sound, such as a heart murmur, through a stethoscope during a routine examination. [wexnermedical.osu.edu]

• Chest Pain

  Symptoms may include chest pain, fainting, shortness of breath, fatigue and a bluish tint to the skin (cyanosis). Learn more about a minimally invasive treatment option for pulmonary valve stenosis and regurgitation [emoryhealthcare.org]

  If you are experiencing severe shortness of breath or chest pain, seek immediate medical care by calling 911 or going to an emergency room for evaluation. [rush.edu]

  When to see a doctor Talk to your doctor if you or your child has: Shortness of breath Chest pain Fainting If you have pulmonary stenosis or another heart problem, prompt evaluation and treatment can help reduce your risk of complications. [mayoclinic.org]

  In patients with significant PV stenosis and RTLS through a PFO, clinical features include exertional syncope, chest pain, central cyanosis, erythema of fingers and toes, clubbing of digits, underdevelopment, moon face, a sustained and strong RV impulse [link.springer.com]

• Systolic Murmur

  He was found to have an ejection systolic murmur and evidence of right ventricular outflow tract obstruction, with a peak velocity of 4.5 m/s recorded by transthoracic Doppler echocardiography. [ncbi.nlm.nih.gov]

  Functional or physiologic PPS is a common cause of a systolic murmur in infants. It occurs in both premature and full-term infants; with time, the pulmonary artery grows, and the murmur usually disappears within a few months. [emedicine.medscape.com]

• Mitral Valve Prolapse

  If they don't, you could have Regurgitation - when blood leaks back through the valve in the wrong direction Mitral valve prolapse - when one of the valves, the mitral valve, has "floppy" flaps and doesn't close tightly. [icdlist.com]

  Valve Prolapse 427 Anomalous Origin of the Left Coronary Artery 429 Cardiomyopathy 433 Infective Endocarditis 439 Myocarditis 444 Rheumatic Heart Disease 447 Aortic Arch and Pulmonary Artery Abnormalities Vascular Rings and Slings 452 Diseases of the [books.google.com]

  valve prolapse (MVP)僧帽弁逸脱［症］ mitral valve replacement僧帽弁置換術 Mobitz type I blockモビッツI型ブロック Mobitz type II blockモビッツII型ブロック moist rale湿性ラ音 mucocutaneous lymph node syndrome (MCLS)皮膚粘膜リンパ節症候群〈 川崎病〉 murmur雑音 Mustard operationマスタード手術、心房内血流転換手術 myocardial [tokyo-med.ac.jp]

• Short Arm

  We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). [ncbi.nlm.nih.gov]

• Dizziness

  Among some of the symptoms consistent with pulmonary valve stenosis are the following: Heart murmur Cyanosis Dyspnea Dizziness Upper thorax pain Developmental disorders In regards to the cause of pulmonary valve stenosis a very high percentage are congenital [en.wikipedia.org]

  If the condition is moderate to severe, then you may have following signs and symptoms: heart murmur prominent and enlarged jugular vein bluish discoloration of the skin chest pain dizziness heart palpitations unexplained fatigue failure to thrive shortness [gleneaglesglobalhospitals.com]

  Dizziness, pain in the chest and the right ventricular hypertrophy occurs in severe cases and it is accompanied by edema, increased dyspnea and fatigue. [remedyland.com]

  However, when symptoms do develop, many of them are similar to those associated with heart failure: Shortness of breath, especially with exercise Palpitations Chest pain (may be mild) Fatigue Dizziness or fainting Bluish nails, lips or skin Heart murmur [houstonmethodist.org]

  Children past infancy may also have these symptoms: Feeling short of breath when active Having pain, pressure or tightness in their chest Fainting or feeling weak or dizzy when active Being more tired than normal Diagnosing Pulmonary Stenosis To diagnose [seattlechildrens.org]

The diagnosis of a pulmonary valve stenosis can be made by performing a thorough clinical examination, with an emphasis on cardiac auscultation. Common findings are widening of the second heart sound (S2), the presence of a fourth heart sound (S4), a harsh mid-systolic ejection murmur (also known as crescendo-decrescendo) heard at the 2nd left parasternal intercostal space that may be accompanied by a thrill, as well as increased jugular venous pressure [4] [5] [6]. Patient history is also an integral part of the workup, as information regarding the onset and course of symptoms are highly useful for further evaluation. Electrocardiography (ECG) is usually the first method used in assessment of cardiac disease, but the cornerstone in diagnosing pulmonary valve stenosis is cardiac ultrasonography and Doppler echocardiography, which directly determines the severity of obstruction by measuring the peak gradient flow (< 36 mmHg is considered as mild obstruction, 36-64 mmHg as moderate and > 64 mmHg as severe) [5] [6] [7]. Where available and when necessary, cardiac magnetic resonance (CMR) imaging is recommended in order to obtain a better view of the right ventricle and measure its size and function, while cardiac catheterization is indicated when inconclusive results are obtained, or when both supravalvular and subvalvular obstruction is concomitantly present [6] [7]. Plain radiography usually reveals a normal heart shadow, but a reduced visibility of the pulmonary vasculature is often seen in severe stenosis [5].

• Right Atrial Hypertrophy

  ECG: may show right ventricular hypertrophy, right atrial hypertrophy and right axis deviation. Angiography: may be required in children with multiple cardiac abnormalities. [patient.info]

• Prominent A-Wave

  ECG of pulmonary valve stenosis Electrical axis deviation to right or right ventricular hypertrophy, prominent P wave. With cardiac catheterization is possible to determine the pressure gradient as the tip of the catheter pass pulmonary valves. [remedyland.com]

  With increasing right ventricular hypertrophy, right ventricular compliance decreases with a resultant increase in end-diastolic pressure and with prominent a waves in the right atrium. [emedicine.medscape.com]

1. Harris IS. Management of Pregnancy in Patients with Congenital Heart Disease. Prog Cardiovasc Dis. 2011;53(4):305-311.
2. Todros T, Paladini D, Chiappa E, et al. Pulmonary stenosis and atresia with intact ventricular septum during prenatal life. Ultrasound Obstet Gynecol. 2003;21(3):228-233.
3. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013;381(9863):333-342.
4. Ayad RF, Johnston SB, Grayburn PA, Schmidt TT, Choi JW. Congenital pulmonic stenosis in a 77-year-old woman successfully treated with percutaneous balloon valvuloplasty. Proc (Bayl Univ Med Cent). 2010;23(1):21-23.
5. Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds. Harrison's Principles of Internal Medicine, 18e. New York, NY: McGraw-Hill; 2012.
6. Porter RS, Kaplan JL. Merck Manual of Diagnosis and Therapy. 19th Edition. Merck Sharp & Dohme Corp. Whitehouse Station, N.J; 2011.
7. Davlouros PA, Niwa K, Webb G, Gatzoulis MA. The right ventricle in congenital heart disease. Heart. 2006;92(Suppl 1):i27-i38.