62yo man, with a history of COPD and 52-pack-year history of smoking, presents to your office to establish care. His shortness of breath has been manageable using tiotropium daily with albuterol 2-3x per month for exacerbation. He denies angina, chest pain, or unreasonable dyspnea with exertion. An EKG was performed and is below.
Definition – low-pitched, rumbling, mid-to-late diastolic murmur heard best at the apex
Clinical Significance – this murmur is associated with severe aortic regurgitation and is due to two distinct mechanisms. First, the aortic jet flow impinging on the mitral valve causing vibrations from premature closing and second, turbulence of two columns of blood from the left atrium to left ventricle and aorta to left ventricle.
History – Named after Austin Flint I (1812-1886), an American physician who received his medical doctorate from Harvard University in 1833. He would practice in Boston, Buffalo (where he would help found the Buffalo Medical College, and New York City, where he was professor of medicine at the famed Bellevue Hospital. A proponent of European diagnostic methods (as he was mentored by James Jackson at Harvard, who was a follower of Laënnec), he advocated and popularized the use of the binaural stethoscope in physical diagnosis. He was a prolific writer and researcher with his Treatise on the Principles and Practice of Medicine considered as a classic medical text. He is also recognized as having coined the term “broncho-vesicular breathing” in lung auscultation. He would publish the first detailed description his eponymous murmur in 1862 in the American Journal of Medicine Sciences in an article entitled “On cardiac murmurs”.
References
Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
A 3yo girl is brought to your office by her parents for concern of asthma. They state that when she plays with her siblings, she often gets short of breath and needs to stop to rest for a few minutes. She is otherwise healthy and was born at 38 weeks gestation via cesarean section. She has had an uncomplicated past medical history and is up to date on all immunizations.
Physical examination reveals a well-nourished, well-developed girl, who is at 67% for height and 46% for weight for her age. Vital signs are BP-110/68, HR-87, RR-13, O2-100%, and temperature-98.7o. There is no evidence of cyanosis and auscultation findings are below.
Describe what you hear.
What condition is this most suggestive of?
What is the management of this condition?
Answer
Continuous, holosystolic, blowing mumur with a faint split S2
2. This type of murmur and the above clinical features are most likely due to a patent ductus arteriosus.
3. After a Doppler echocardiogram has been performed, surgery would be the next step to close this defect. Pharmacologic therapy does not work as well in older infants and children. Transcatheter closure would be the preferred option given the patient’s age.
Primitive AV canal connects the atria with the ventricles
At 4-5 weeks gestation, the superior and inferior endocardial cushions fuse and form the AV canal
This contributes to the AV valves and septum
Types and Classifications
Classified based on the degree of the defect
Complete
Complete failure of fusion between the superior and inferior endocardial cushions
Combined primum ASD and posterior VSD with a single, common AV valve
Can be balanced (both ventricles get same flow) or unbalanced (one gets more than the other)
Unbalanced can lead to hypoplasia
Partial
Incomplete fusion of superior and inferior endocardial cushions
Primum ASD, single AV valve annulus with 2 valve orifices
Transitional
Large primum defect, cleft mitral valve, and inlet VSD
Up-to-Date. 2020
Rastelli Classification
Type A
Most common form and most common ASVD with Down syndrome
Type B
Least common
Type C
Frequently found with other conditions
Tetralogy of Fallot, Transposition of Great Vessels
Up-to-Date. 2020
Pathophysiology
Complete AV Canal Defect
Increased pulmonary blood flow due to left-to-right shunting
Leads to heart failure and pulmonary hypertension
Partial AV Canal Defect
Volume overload of right atrium and right ventricle with pulmonary overcirculation due to left-to-right shunting
No pulmonary hypertension
Mitral regurgitation can be severe
Transitional AV Canal Defect
Shunting often mild due to small VSD
Clinical Presentation
In-Utero
Can be diagnosed early during pregnancy
Rarely cause any fetal distress or growth disturbances
Complete
Heart failure develops early in infancy
Tachypnea, poor feeding, poor growth, sweating, and pallor by 2 month
Severity of symptoms depends on size and degree of AV valve regurgitation
Physical examination
Hyperactive precordium with inferior/laterally displaced PMI
Increased S2
Systolic ejection murmur heard best at left upper sternal border
Partial and Transitional
Asymptomatic during childhood and only diagnosed on routine examination
Physical examination
Wide and fixed S2 during respiration
Systolic ejection murmur heard best at left upper sternal border
Diastolic rumble may be heard
Holosytolic murmur of MR
Diagnostic Studies
Echocardiography
Transthoracic is adequate
Apical four chamber or subcostal view is best to see defect
Management
In general, surgical correction is recommended because of significant morbidity and mortality of the pulmonary circulation effects
Complete
Correction by 6 months of age to prevent permanent pulmonary hypertension
Close the ASD and VSD and create to separate, competent AV valves
Single-patch or double-patch
Up-to-Date. 2020
Partial and Transitional
Primum ASD does not close spontaneously and leaves the patient at risk for atrial fibrillation and heart failure later in life
Surgical goal is to close intraatrial communication and restore/preserve AV valve competence
Patch closure of ostium primum defect and mitral valvuloplasty
Timing is usually between 18 months and 3 years
Patent Ductus Arteriosus
Epidemiology
3-8 per 10,000 live births
2:1 female predominance
Normal Development
Derived from the embryonic left sixth arch
Actually has different tissue than the aorta or pulmonary artery
Intima is thicker
Media contains more smooth muscle
In utero, allows from RV flow to placenta to get oxygenated
Keep open by low arterial oxygen and prostaglandin E2 from placenta
At birth, increased levels of arterial oxygen and the lack of prostaglandin E2 begins the process of spontaneous closure
Clinical Presentation
Symptoms depend on the degree of left-to-right shunting
Dependent on size and length of PDA, as well as the difference between the pulmonary and systemic vascular resistances
Classic murmur
Continuous, holosystolic murmur
Machinery murmur
Heard best over left upper sternal border
Small (Qp:Qs < 1.5 to 1)
Asymptomatic and detected on routine physical examination
Moderate (Qp:Qs 1.5-2.2 to 1)
May present with exercise intolerance and heart failure
Left-to-right shunt increasing left atrial and ventricular volume
Progress to left ventricular dilation and dysfunction
Displaced PMI
Widened pulse pressure
Large (Qp:Qs > 2.2 to 1)
Due to increased left sided pressures, can lead to increased pulmonary pressures
May be irreversible if not corrected
Can lead to right-to-left shunt if pressure is high enough
Eisenmenger syndrome (cyanosis)
Split S2 with prominent pulmonary component
Murmur may disappear as pulmonary pressure increases
Heart failure, poor feeding, failure to thrive, respiratory distress
Dynamic PMI with a thrill
Wide pulse pressures and bounding pulses
Diagnostic Studies
Transthoracic, doppler color flow echocardiography
The ductus is best viewed on the parasternal short-axis and suprasternal view
Management
Decisions are made on whether to actively close the PDA or monitor cardiac status
Term vs pre-term
Pre-term respond well to prostaglandin inhibitors
Size of the PDA
Moderate to large warrant closure
Small, audible PDA also benefit from closure to lower long term complications
Especially bacterial endocarditis
Degree of left-to-right shunt
Degree of left sided volume overload
Evidence of pulmonary hypertension
Closure not recommended in severe PAH
Closure Options
Medical/Pharmacologic Therapy
Prostaglandin inhibitors
Indomethacin, ibuprofen
Ibuprofen > indomethacin in term infants and older patients
Surgery
Posterolateral thoracotomy with direct PDA ligation
Video-Assisted Thoracoscopic Surgery (VATS) is less invasive option
Not indicated if PDA size > 9mm
Percutaneous closure using coils or commercial occlusion devices
Coarctation of the Aorta
Definition
Narrowing of the descending aorta at the insertion of the ductus arteriosus distal to the left subclavian artery
Epidemiology
4-6% of all CHD
4 cases per 10,000 live births
More common in males
Pathogenesis
Unknown, but two theories prevail:
Decreased intrauterine blood flow leading to under development of the fetal aortic arch
Migration/extension of ductal tissue into the wall of thoracic aorta
Genetic associations and increased familial risk
Usually accompanied with other CHD
Pathophysiology
As PDA and FO begin to close after birth, increased pressure over the narrowed aorta
Leads to left ventricular outflow tract obstruction
Increased collateral blood flow across the intercostals, internal mammary, and scapular vessels
Clinical Manifestations
Classic findings
Absent/delayed femoral pulses
Difference in upper extremity and lower extremity blood pressures
Neonates
Asymptomatic as long as there is a patent ductus
Murmurs of other CHD
Infants and Older Children
Complain of lower extremity claudication symptoms with exertion
Hypertension may be prominent
Adults
Hypertension is may sign
If severe, may lead to heart failure, aortic pathologies
Claudication can also be present
Diagnostic Studies
Chest radiography
Infants
Cardiomegaly with increased pulmonary vascular markings
Older children and adults
Rib notching from large collateral development
“3” sign from indentation of aortic wall at coarctation site
The red arrows point to rib notching caused by the dilated intercostal arteries. The yellow arrow points to the aortic knob, the blue arrow to the actual coarctation and the green arrow to the post-stenotic dilation of the descending aorta. Learning Radiology. 2020
Echocardiography
Transthoracic, doppler flow can visualize coarctation and evaluate for other defects
Ideal view is high parasternal long axis or suprasternal view
Cardiovascular MRI/CT
Recommended for adolescent and adult patients
Cardiac catheterization
Generally performed in conjunction with therapeutic interventions, or in adults with associated coronary disease
Management
Indications for inventions
Neonates with critical coarctation
Emergent medical therapy
Continuous infusion of prostaglandin E1
Inotropic support
Support care to correct metabolic derangements
Gradient > 20 mmHg
Radiologic evidence of clinically significant collateral flow
Hypertension or heart failure attributed to the defect
Types of Interventions
Balloon angioplasty (only)
Infants > 4 months and young children < 25kg
Preferred therapy for isolated coarctation
Stent Placement (after angioplasty)
Children > 25kg and adults
Surgical repair
Falling out of favor with increasing advancement and safety of transcatheter techniques
References
Liu S, Joseph KS, Lisonkova S, et al. Association between maternal chronic conditions and congenital heart defects: a population-based cohort study. Circulation. 2013; 128(6):583-9. [pubmed]
Jenkins KJ, Correa A, Feinstein JA, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007; 115(23):2995-3014. [pubmed]
Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. Recurrence of congenital heart defects in families. Circulation. 2009; 120(4):295-301. [pubmed]
Frank JE, Jacobe KM. Evaluation and management of heart murmurs in children. American family physician. 2011; 84(7):793-800. [pubmed]
Kang G, Xiao J, Wang Y, et al. Prevalence and clinical significance of cardiac murmurs in schoolchildren. Archives of disease in childhood. 2015; 100(11):1028-31. [pubmed]
McCrindle BW, Shaffer KM, Kan JS, Zahka KG, Rowe SA, Kidd L. Cardinal clinical signs in the differentiation of heart murmurs in children. Archives of pediatrics & adolescent medicine. 1996; 150(2):169-74. [pubmed]
van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. Journal of the American College of Cardiology. 2011; 58(21):2241-7. [pubmed]
Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American College of Cardiology. 2002; 39(12):1890-900. [pubmed]
Zhao QM, Niu C, Liu F, Wu L, Ma XJ, Huang GY. Spontaneous Closure Rates of Ventricular Septal Defects (6,750 Consecutive Neonates). The American journal of cardiology. 2019; 124(4):613-617. [pubmed]
Zhang J, Ko JM, Guileyardo JM, Roberts WC. A review of spontaneous closure of ventricular septal defect. Proceedings (Baylor University. Medical Center). 2015; 28(4):516-20. [pubmed]
Bol-Raap G, Weerheim J, Kappetein AP, Witsenburg M, Bogers AJ. Follow-up after surgical closure of congenital ventricular septal defect. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery. 2003; 24(4):511-5. [pubmed]
Butera G, Carminati M, Chessa M, et al. Transcatheter closure of perimembranous ventricular septal defects: early and long-term results. Journal of the American College of Cardiology. 2007; 50(12):1189-95. [pubmed]
Hanslik A, Pospisil U, Salzer-Muhar U, Greber-Platzer S, Male C. Predictors of spontaneous closure of isolated secundum atrial septal defect in children: a longitudinal study. Pediatrics. 2006; 118(4):1560-5. [pubmed]
Muta H, Akagi T, Egami K, et al. Incidence and clinical features of asymptomatic atrial septal defect in school children diagnosed by heart disease screening. Circulation journal : official journal of the Japanese Circulation Society. 2003; 67(2):112-5. [pubmed]
Korenberg JR, Bradley C, Disteche CM. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. American journal of human genetics. 1992; 50(2):294-302. [pubmed]
Cetta F, Minich LL, Edwards WD, et al. Atrioventricular septal defects. In: Moss and Adams’ Heart Disease in Infants, Children, and Adolescents Including the Fetus and Young Adult, 7th ed, Allen HD, Shaddy RE, Driscoll DJ, Feltes TF (Eds), Lippincott Williams & Wilkins, Philadelphia 2007.
Rastelli G, Kirklin JW, Titus JL. Anatomic observations on complete form of persistent common atrioventricular canal with special reference to atrioventricular valves. Mayo Clinic proceedings. 1966; 41(5):296-308. [pubmed]
Backer CL, Stewart RD, Mavroudis C. What is the best technique for repair of complete atrioventricular canal? Seminars in thoracic and cardiovascular surgery. 2007; 19(3):249-57. [pubmed]
Minich LL, Atz AM, Colan SD, et al. Partial and transitional atrioventricular septal defect outcomes. The Annals of thoracic surgery. 2010; 89(2):530-6. [pubmed]
Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American College of Cardiology. 2002; 39(12):1890-900. [pubmed]
Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation. 2008; 118(23):e714-833. [pubmed]
Giroud JM, Jacobs JP. Evolution of strategies for management of the patent arterial duct. Cardiology in the young. 2007; 17 Suppl 2:68-74. [pubmed]
Keane JF, Flyer DC. Coarctation of the aorta. In: Nadas’ Pediatric Cardiology, 2nd ed, Keane JF, Lock JE, Fyler DC (Eds), Saunders Elsevier, Philadelphia 2006.
Beekman RH III. Coarctation of the Aorta. In: Moss and Adams’ Heart Disease in Infants, Children, and Adolescents, 6th ed, Allen HD, Driscoll DJ, Shaddy RE, Feltes TF (Eds), WK Lippincott Willams and Wilkins, Philadelphia 2008. Vol 2
Silversides CK, Kiess M, Beauchesne L, et al. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome. The Canadian journal of cardiology. 2010; 26(3):e80-97. [pubmed]
Baumgartner H, Bonhoeffer P, De Groot NM, et al. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). European heart journal. 2010; 31(23):2915-57. [pubmed]
A 3yo girl is brought to your office by her parents for concern of asthma. They state that when she plays with her siblings, she often gets short of breath and needs to stop to rest for a few minutes. She is otherwise healthy and was born at 38 weeks gestation via cesarean section. She has had an uncomplicated past medical history and is up to date on all immunizations.
Physical examination reveals a well-nourished, well-developed girl, who is at 67% for height and 46% for weight for her age. Vital signs are BP-110/68, HR-87, RR-13, O2-100%, and temperature-98.7o. There is no evidence of cyanosis and auscultation findings are below.
Definition – non-tender, small erythematous or hemorrhagic lesions on the palms of the hands or soles of the feet.
Clinical Significance – these lesions are one of the classic, pathognomonic findings in infectious endocarditis. They are caused by septic emboli which deposit bacteria in the dermis of the skin causing microabscesses. In fact, cultures can be taken from these lesions.
History – Named after Edward G. Janeway (1841-1911), who was an American pathologist and received his medical doctorate from the College of Physicians and Surgeons in New York in 1864. He had a prolific career practicing in and around New York city primarily at Bellevue Hospital and served as Health Commissioner of New York from 1875-1882. He went on to become one of the founders of the Association of American Physicians in 1886, as well as president of the Academy of Medicine in 1897 and 1898. A contemporary of Sir William Osler, Janeway was regarded as one of America’s premier internists of the late nineteeth and early twentieth century. He first noted his eponymous finding in 1899 as a “peculiar skin lesion”, but the eponym was first coined by Emanuel Libman in 1906 and later explained in a footnote in an article in 1923.
References
Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
1980 – WHO characterized cardiomyopathies as “heart muscle diseases of unknown causes”
Distinguish between non-cardiovascular pathologies (HTN, coronary disease, valvular disease)
1995 – WHO and International Society and Federation of Cardiology (ISFC) developed a task force specifically looking at the definition and classifications of cardiomyopathies
Definition they developed was “disease of the myocardium associated with cardiac dysfunction”
Dilated cardiomyopathy (DCM)
Hypertrophic cardiomyopathy (HCM)
Restrictive cardiomyopathy (FCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Unclassified cardiomyopathy
2006 – AHA released a statement to update to a more contemporary definition with two major categories
Primary cardiomyopathies (predominantly involving the heart)
Secondary cardiomyopathies (other system involvement)
2008 – European Society of Cardiology (ESC) updated the WHO/IFSC classification of cardiomyopathies as
“a disorder in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, HTN, valvular disease, and congenital heart disease”
Meant to more clinically useful
Further subcategorized into familial and non-familial causes, as well as removing CAD, vavlvular, congenital heart disease, and ion channelopathies as causes
Echographic Evaluation
Systolic
Decrease in myocardial contractility resulting in a decrease in left ventricular ejection fraction
To compensate, cardiac output is maintained by LV enlargement (increase stroke volume)
As a result, systolic dysfunction is most commonly characterized by a dilated cardiomyopathy
Diastolic
Dysfunction in LV relaxation resulting in abnormal filling and elevated filling pressures
Mostly affected by compliance and distensibility of the myocardium
As a result, diastolic dysfunction is most commonly characterized by restrictive cardiomyopathy
Current Classifications
Dilated
Definition
Dilation and impaired contraction of one or both ventricles resulting in an increase in total cardiac mass
Numbers
Incidence – 5-8 cases per 100,000 population
Prevalence – 36 per 100,000
STRONG HEART Study (20021) – Up to 14% of middle-aged and elderly may have asymptomatic LV dysfunction
Causes
Signs and Symptoms
Progressive dyspnea on exertion
Impaired exercise capacity
Orthopnea
Paroxysmal nocturnal dyspnea
Peripheral edema
Cardiomegaly
Radiographic
> 50% cardiothoracic ratio
Clinical
Displaced PMI
S3 with gallop
Classic Echocardiographic Findings
Left ventricular cavitary spherical dilation
Normal to decreased wall thickness
Reduced inward systolic motion
Left > Right atrial enlargement and dysfunction
Hypertrophic
Definition
Increased Left > Right ventricular wall thickness in the absence of pathologic causing conditions
Numbers
Prevalence – 1:500 of the adult population
Causes
Primarily genetic
Autosomal dominant with incomplete penetrance
60-70% of patients have mutations in the beta myosin heavy chain and cardiac myosin-binding protein C genes
Signs and Symptoms
Atypical angina (25-30%)
Presyncope and syncope during or immediately after exertion (15-20%)
More common in patients < 30yo
Palpitations
Dyspnea on exertion
Fatigue
Clinical
LVOT obstruction
S4
Harsh crescendo-decrescendo systolic murmur after S1 best heard at apex and lower left sternal border
Accentuated by squatting and standing quickly
Diminished by standing and squatting quickly or with handgrip
Mitral regurgitation murmur
Classic Echocardiographic Findings
LV wall thickness > 15mm
LV outflow obstruction > 30mmHg
Asymmetric septal hypertrophy
Systolic anterior motion of the mitral valve (SAM)
Restrictive
Definition
Non-dilated, nonhypertrophied ventricles with moderate to marked biatrial enlargement
Numbers
~5% of all cases of cardiomyopathies
Causes
Infiltrative
Amyloidosis, sarcoidosis
Non-infiltrative
Diabetic, scleroderma
Storage Disease
Hemochromatosis, Fabry, Gaucher
Endomyocardial
Cancer/Cancer therapy, pharmacologic
Signs and Symptoms
Dyspnea
Peripheral edema
Palpitations
Fatigue
Weakness
Exercise intolerance
Clinical
Elevated JVP with a prominent y descent
S3
Hepatosplenomegaly and ascites
Classic Echocardiographic Findings
Difficult and often requires doppler interrogation
Elevated peak mitral inflow velocity
Rapid early mitral inflow deceleration
Reduced annular velocity
Normal to low diastolic volume
Normal to low reduced LVEF
Atrial enlargement
The Cottage Physician (1893)
References
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. British heart journal. 1980; 44(6):672-3. [pubmed]
Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 1996; 93(5):841-2. [pubmed]
Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 113(14):1807-16. [pubmed]
Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. European heart journal. 2008; 29(2):270-6. [pubmed]
Dec GW, Fuster V. Idiopathic dilated cardiomyopathy. The New England journal of medicine. 1994; 331(23):1564-75. [pubmed]
Devereux RB, Roman MJ, Paranicas M, et al. A population-based assessment of left ventricular systolic dysfunction in middle-aged and older adults: the Strong Heart Study. American heart journal. 2001; 141(3):439-46. [pubmed]
Felker GM, Thompson RE, Hare JM, et al. Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. The New England journal of medicine. 2000; 342(15):1077-84. [pubmed]
Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995; 92(4):785-9. [pubmed]
Maron BJ. Clinical Course and Management of Hypertrophic Cardiomyopathy. The New England journal of medicine. 2018; 379(7):655-668. [pubmed]
Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107(17):2227-32. [pubmed]
Nienaber CA, Hiller S, Spielmann RP, Geiger M, Kuck KH. Syncope in hypertrophic cardiomyopathy: multivariate analysis of prognostic determinants. Journal of the American College of Cardiology. 1990; 15(5):948-55. [pubmed]
Muchtar E, Blauwet LA, Gertz MA. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circulation research. 2017; 121(7):819-837. [pubmed]
Ammash NM, Seward JB, Bailey KR, Edwards WD, Tajik AJ. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation. 2000; 101(21):2490-6. [pubmed]
Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy. The New England journal of medicine. 1997; 336(4):267-76. [pubmed]
A 5yo boy is brought to you clinic by his parents for reporting that his legs hurt “when he plays too much”. His parents corroborate this saying that when he is climbing on the playground for too long he complains that his legs hurt and he needs to stop and rest for awhile. Vaccinations are UTD and he has had a relatively healthy childhood without significant illnesses. He has no significant past medical history and mother reports that she was 38 weeks when he was born via NSVD without any complications. Cardiac auscultation reveals a normal S1 and S2 without murmurs, gallops, or rubs.
What would you expect to find on physical examination?
What other physical assessment can you perform at the bedside to help with the diagnosis?
What findings on diagnostics would also help with the diagnosis?
Answer
The above scenario suggests coarctation of the aorta. The classic physical exam findings are hypertension in the upper extremities, delayed or dminished femoral pulses, and low or unobtainable blood pressures in the lower extremities. Thus, in patients you suspect coarctation of the aorta your should perform a supine bilateral brachial artery blood pressures and prone, supine popliteal blood pressure. In older children and adults, you may see rib notching on chest radiographs from development of large collateral arteries, as well as an indentation of the aortic wall at the site of the coarctation producing the class “3” sign.
Definition – chest pain that occurs in the absence of exertion, often at rest and sometimes waking the patient up from sleep.
Clinical Significance – this type of angina classically is caused by vasospasm of the coronary vessels with or without superimposed antherosclerosis.
History – Named after Myron Prinzmetal (1908-1987), who was an American cardiologist and received his medical doctorate from UCSF School of Medicine in 1933. His career focused mainly on hypertension and heart dysrhythmias with over 160 publications to his name. He published the article describing his eponymous disease in 1959 entitled “Angina pectoris I: A variant form of angina pectoris”.
References
Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
PRINZMETAL M, KENNAMER R, MERLISS R, WADA T, BOR N. Angina pectoris. I. A variant form of angina pectoris; preliminary report. The American journal of medicine. 1959; 27:375-88. [pubmed]
A 5yo boy is brought to you clinic by his parents for reporting that his legs hurt “when he plays too much”. His parents corroborate this saying that when he is climbing on the playground for too long he complains that his legs hurt and he needs to stop and rest for awhile. Vaccinations are UTD and he has had a relatively healthy childhood without significant illnesses. He has no significant past medical history and mother reports that she was 38 weeks when he was born via NSVD without any complications. Cardiac auscultation reveals a normal S1 and S2 without murmurs, gallops, or rubs.
What would you expect to find on physical examination?
What other physical assessment can you perform at the bedside to help with the diagnosis?
What findings on diagnostics would also help with the diagnosis?